Variant report

Variant	rs1881803
Chromosome Location	chr4:3485786-3485787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr4:3484964-3488054	ECC-1	luminal epithelium:	n/a	chr4:3485633-3485641
2	FOXM1	chr4:3484986-3487210	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr4:3485064-3487144	ECC-1	luminal epithelium:	n/a	chr4:3485583-3485599
4	SRF	chr4:3485576-3486995	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr4:3485579-3487154	MCF-7	breast:	n/a	chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
6	RCOR1	chr4:3485680-3485928	K562	blood:	n/a	n/a
7	ESR1	chr4:3485740-3487450	ECC-1	luminal epithelium:	n/a	n/a
8	ZBTB7A	chr4:3485033-3487141	ECC-1	luminal epithelium:	n/a	chr4:3485633-3485641
9	EP300	chr4:3484927-3487690	ECC-1	luminal epithelium:	n/a	chr4:3485583-3485599
10	FOXM1	chr4:3485748-3486995	ECC-1	luminal epithelium:	n/a	n/a
11	RAD21	chr4:3485776-3486871	ECC-1	luminal epithelium:	n/a	chr4:3486675-3486687
12	TCF12	chr4:3485783-3487617	MCF-7	breast:	n/a	chr4:3486044-3486052 chr4:3486087-3486097
13	MYC	chr4:3485725-3487081	MCF-7	breast:	n/a	chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
14	USF1	chr4:3485643-3487087	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr4:3484972-3487780	ECC-1	luminal epithelium:	n/a	chr4:3487770-3487780 chr4:3485420-3485427 chr4:3486044-3486052 chr4:3486087-3486097
16	MAX	chr4:3484979-3487596	ECC-1	luminal epithelium:	n/a	chr4:3485249-3485258 chr4:3485250-3485257 chr4:3485248-3485259 chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
17	POLR2A	chr4:3485074-3487389	MCF-7	breast:	n/a	n/a
18	TCF12	chr4:3484886-3487803	ECC-1	luminal epithelium:	n/a	chr4:3487770-3487780 chr4:3485420-3485427 chr4:3486044-3486052 chr4:3486087-3486097
19	MAX	chr4:3484913-3487647	ECC-1	luminal epithelium:	n/a	chr4:3485249-3485258 chr4:3485250-3485257 chr4:3485248-3485259 chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
20	SIN3AK20	chr4:3485613-3487700	MCF-7	breast:	n/a	n/a
21	NFIC	chr4:3484979-3487718	ECC-1	luminal epithelium:	n/a	chr4:3485981-3485998
22	NR2F2	chr4:3485786-3487229	MCF-7	breast:	n/a	n/a
23	YY1	chr4:3485659-3487002	ECC-1	luminal epithelium:	n/a	n/a
24	GATA3	chr4:3485732-3487308	MCF-7	breast:	n/a	n/a
25	NFIC	chr4:3484994-3487716	ECC-1	luminal epithelium:	n/a	chr4:3485981-3485998
26	CEBPB	chr4:3485772-3486821	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr4:3485725-3486973	MCF10A-Er-Src	breast:	n/a	chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
28	POLR2A	chr4:3485050-3487936	MCF-7	breast:	n/a	n/a
29	POLR2A	chr4:3485773-3486808	MCF-7	breast:	n/a	n/a
30	POLR2A	chr4:3484985-3487966	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr4:3485060-3487617	MCF-7	breast:	n/a	chr4:3485249-3485258 chr4:3485250-3485257 chr4:3485248-3485259 chr4:3486892-3486902 chr4:3486927-3486937 chr4:3486012-3486021
32	USF1	chr4:3485741-3486914	ECC-1	luminal epithelium:	n/a	n/a
33	TEAD4	chr4:3484968-3487036	ECC-1	luminal epithelium:	n/a	chr4:3485343-3485352

No.	Distal block	Cell Line	Cell type
1	chr4:3418569..3420412-chr4:3484561..3487471,2	MCF-7	breast:
2	chr4:3484714..3487220-chr4:3532599..3535251,4	MCF-7	breast:
3	chr4:3439130..3442230-chr4:3483136..3486025,3	MCF-7	breast:
4	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
5	chr4:3484197..3487656-chr4:3491883..3496058,4	K562	blood:
6	chr4:3386285..3389665-chr4:3485168..3487566,3	MCF-7	breast:

Variant related genes	Relation type
DOK7	TF binding region
ENSG00000175920	Chromatin interaction
ENSG00000159788	Chromatin interaction
ENSG00000163956	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1054662	0.81[CEU][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs1741556	0.88[CHB][hapmap]
rs1794421	0.84[CHB][hapmap]
rs1794440	0.88[CHB][hapmap]
rs1881801	0.89[ASN][1000 genomes]
rs1881804	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881805	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2006277	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2006791	0.88[ASN][1000 genomes]
rs2699403	0.80[CEU][hapmap];0.88[CHB][hapmap]
rs2699416	0.88[CHB][hapmap]
rs2857984	0.81[ASN][1000 genomes]
rs2857988	0.90[ASN][1000 genomes]
rs2858023	0.81[CEU][hapmap];0.88[CHB][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs2858030	0.88[CHB][hapmap]
rs2858032	0.88[CHB][hapmap]
rs3135164	0.81[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.85[TSI][hapmap]
rs3182	0.81[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs3183	0.88[CHB][hapmap]
rs3184	0.88[CHB][hapmap]
rs731450	0.88[CHB][hapmap];0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs736993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676662	0.85[ASN][1000 genomes]
rs867246	0.88[CHB][hapmap]
rs916189	0.88[ASN][1000 genomes]
rs916198	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv878464	chr4:3405165-3505448	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv878465	chr4:3405165-3566567	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv1791851	chr4:3407753-3534022	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1000383	chr4:3412585-3839781	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv878469	chr4:3413209-3566567	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv878470	chr4:3413209-3566567	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv878471	chr4:3413209-3884998	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	esv1816543	chr4:3414654-3942867	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	nsv1001328	chr4:3421979-3654381	Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv878474	chr4:3422211-3504562	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv1008575	chr4:3429062-3487322	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv967719	chr4:3429579-3535969	Genic enhancers Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv470004	chr4:3429856-3584373	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv878475	chr4:3431342-3504562	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv516505	chr4:3434336-3504562	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv1011554	chr4:3436478-3975772	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
26	nsv537002	chr4:3436478-3975772	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
27	nsv878476	chr4:3436588-3504562	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv878477	chr4:3438643-3584059	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv829840	chr4:3444216-3623031	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
30	nsv878478	chr4:3447243-3566567	Bivalent Enhancer Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	nsv1002774	chr4:3450810-3577017	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
32	nsv1012371	chr4:3450810-3878976	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
33	nsv537003	chr4:3450810-3878976	Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
34	nsv998670	chr4:3453787-3909535	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
35	nsv878479	chr4:3461900-3498896	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
36	nsv878480	chr4:3461900-3504562	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
37	nsv878481	chr4:3461900-3566567	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
38	nsv878482	chr4:3461900-3573260	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
39	nsv878483	chr4:3461900-3683269	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
40	nsv1008394	chr4:3462618-3577017	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
41	esv1806490	chr4:3463724-3501161	Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
42	esv1808609	chr4:3463924-3500961	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
43	nsv433362	chr4:3467519-3485786	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
44	nsv461170	chr4:3471754-3496940	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
45	nsv593458	chr4:3471754-3496940	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
46	esv2757031	chr4:3472162-3510598	Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
47	nsv998512	chr4:3472878-3643547	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
48	nsv537004	chr4:3472878-3643547	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
49	nsv878484	chr4:3473139-3499153	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
50	nsv878485	chr4:3473139-3525057	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1881803	PDE6B	cis	cerebellum	SCAN
rs1881803	CPLX1	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
2	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
3	chr4:3476800-3490800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:3481000-3489200	Enhancers	Fetal Heart	heart
5	chr4:3481200-3488800	Enhancers	Left Ventricle	heart
6	chr4:3481400-3486200	Enhancers	Right Ventricle	heart
7	chr4:3481400-3491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:3482200-3486600	Enhancers	Stomach Mucosa	stomach
9	chr4:3482400-3486400	Enhancers	Primary B cells from cord blood	blood
10	chr4:3482400-3487200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr4:3483000-3486800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:3483200-3489600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3484000-3486600	Enhancers	Gastric	stomach
14	chr4:3484200-3486400	Weak transcription	Lung	lung
15	chr4:3484600-3486000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:3485000-3486000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:3485000-3486600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr4:3485000-3486800	Enhancers	Brain Angular Gyrus	brain
19	chr4:3485000-3489400	Bivalent Enhancer	Placenta	Placenta
20	chr4:3485200-3485800	Enhancers	Esophagus	oesophagus
21	chr4:3485200-3486200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr4:3485200-3486400	Enhancers	A549	lung
23	chr4:3485200-3486600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:3485200-3486600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:3485200-3486800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:3485200-3486800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr4:3485200-3486800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr4:3485200-3487400	Enhancers	Pancreas	Pancrea
29	chr4:3485200-3487400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr4:3485200-3487400	Enhancers	Spleen	Spleen
31	chr4:3485200-3488200	Flanking Active TSS	HMEC	breast
32	chr4:3485200-3489400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr4:3485200-3489600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:3485400-3485800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:3485400-3485800	Enhancers	NHDF-Ad	bronchial
36	chr4:3485400-3485800	Enhancers	Osteobl	bone
37	chr4:3485400-3486000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:3485400-3486000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:3485400-3486000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr4:3485400-3486200	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr4:3485400-3486600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr4:3485400-3486600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr4:3485400-3486600	Enhancers	Brain Hippocampus Middle	brain
44	chr4:3485400-3486600	Bivalent Enhancer	NH-A	brain
45	chr4:3485400-3486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:3485400-3487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:3485400-3488200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:3485400-3488600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr4:3485400-3489800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:3485600-3485800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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