Variant report

Variant	rs6736093
Chromosome Location	chr2:112655242-112655243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:112655134-112656651	GM12878	blood:	n/a	n/a
2	CTCF	chr2:112655207-112656021	SK-N-SH	brain:	n/a	n/a
3	TBP	chr2:112655217-112656621	HepG2	liver:	n/a	n/a
4	MXI1	chr2:112655196-112657046	GM12878	blood:	n/a	n/a
5	ARID3A	chr2:112654996-112655925	HepG2	liver:	n/a	n/a
6	CREB1	chr2:112654908-112656986	HepG2	liver:	n/a	n/a
7	CTCF	chr2:112655186-112655951	MCF-7	breast:	n/a	n/a
8	REST	chr2:112655227-112656034	H1-neurons	neurons:	n/a	chr2:112655641-112655654
9	TBL1XR1	chr2:112654437-112655908	K562	blood:	n/a	n/a
10	TCF12	chr2:112655217-112656572	A549	lung:	n/a	n/a
11	HMGN3	chr2:112655139-112657068	K562	blood:	n/a	n/a
12	MXI1	chr2:112655002-112657404	SK-N-SH	brain:	n/a	n/a
13	MBD4	chr2:112655241-112655970	HepG2	liver:	n/a	n/a
14	KAP1	chr2:112655203-112655879	HEK293	kidney:	n/a	n/a
15	EP300	chr2:112655167-112655855	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr2:112655091-112655857	K562	blood:	n/a	n/a
17	POLR2A	chr2:112655024-112656765	HepG2	liver:	n/a	n/a
18	NFIC	chr2:112655120-112655940	HepG2	liver:	n/a	n/a
19	CTCF	chr2:112655105-112656011	A549	lung:	n/a	n/a
20	MAZ	chr2:112655020-112656645	HepG2	liver:	n/a	chr2:112656516-112656526
21	POLR2A	chr2:112655219-112656003	H1-neurons	neurons:	n/a	n/a
22	SP4	chr2:112655227-112655949	H1-hESC	embryonic stem cell:	n/a	n/a
23	CUX1	chr2:112654891-112655764	K562	blood:	n/a	n/a
24	WRNIP1	chr2:112655080-112655772	GM12878	blood:	n/a	n/a
25	SIN3A	chr2:112655081-112657576	H1-hESC	embryonic stem cell:	n/a	chr2:112656384-112656395
26	MYBL2	chr2:112655168-112656949	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:112655170-112656761	HepG2	liver:	n/a	chr2:112655836-112655852
28	MAZ	chr2:112655221-112657103	IMR90	lung:	n/a	chr2:112656516-112656526
29	RAD21	chr2:112655032-112655879	IMR90	lung:	n/a	n/a
30	GTF2F1	chr2:112654933-112655788	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr2:112655238-112655872	HepG2	liver:	n/a	n/a
32	TEAD4	chr2:112655028-112655996	HepG2	liver:	n/a	n/a
33	MXI1	chr2:112655137-112655945	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:112655240-112655390	GM12871	blood:	n/a	n/a
35	ZNF143	chr2:112655125-112655841	K562	blood:	n/a	n/a
36	MAX	chr2:112655228-112656014	SK-N-SH	brain:	n/a	n/a
37	EP300	chr2:112655182-112656375	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:112655213-112656607	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr2:112655180-112655330	HMEC	breast:	n/a	n/a
40	RAD21	chr2:112655097-112656020	HCT-116	colon:	n/a	n/a
41	CTCF	chr2:112655100-112655250	HPF	lung:	n/a	n/a
42	SMC3	chr2:112655220-112655765	HepG2	liver:	n/a	chr2:112655594-112655604
43	SMC3	chr2:112655194-112656926	SK-N-SH	brain:	n/a	chr2:112655594-112655604
44	ZNF263	chr2:112654979-112657666	HEK293-T-REx	kidney:	n/a	n/a
45	MBD4	chr2:112655232-112655861	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:112655234-112656613	HepG2	liver:	n/a	n/a
47	ZNF143	chr2:112655129-112656765	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr2:112654972-112656995	GM12878	blood:	n/a	chr2:112656516-112656526
49	TBP	chr2:112655154-112655815	GM12878	blood:	n/a	n/a
50	RAD21	chr2:112654896-112656889	SK-N-SH	brain:	n/a	chr2:112656754-112656761

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:112640266..112649080-chr2:112649576..112660203,14	MCF-7	breast:
2	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
3	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
4	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
5	chr2:112655233..112656048-chr2:112716163..112716720,2	MCF-7	breast:
6	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
7	chr2:112639319..112643119-chr2:112654632..112657707,5	K562	blood:
8	chr2:112655191..112655972-chr2:113339541..113340327,2	K562	blood:
9	chr2:112641269..112644137-chr2:112654774..112658202,3	MCF-7	breast:
10	chr2:112639278..112642827-chr2:112654632..112657057,4	K562	blood:

No data

Variant related genes	Relation type
MERTK	TF binding region
ENSG00000236307	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10176769	0.81[JPT][hapmap]
rs10192602	0.81[ASN][1000 genomes]
rs10192728	0.81[JPT][hapmap]
rs10195619	0.92[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10496439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1122970	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674226	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674883	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11674891	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11675946	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.81[ASN][1000 genomes]
rs11678522	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679801	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680463	0.82[EUR][1000 genomes]
rs11681063	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11682629	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11683694	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684321	0.92[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs11685190	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11686647	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687451	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687619	0.80[YRI][hapmap]
rs11692445	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13001162	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs13003919	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013340	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13013943	0.84[ASN][1000 genomes]
rs13020304	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13020353	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025651	0.82[EUR][1000 genomes]
rs13027171	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033393	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554216	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17174697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967530	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271701	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2871876	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34527376	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34705448	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34875611	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34928784	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34974369	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34983493	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189728	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35379879	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35382200	0.81[EUR][1000 genomes]
rs35471545	0.81[ASN][1000 genomes]
rs35507976	0.89[EUR][1000 genomes]
rs35643003	0.81[EUR][1000 genomes]
rs35735892	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35757708	0.85[EUR][1000 genomes]
rs3761699	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811633	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811634	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4264571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848229	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848238	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4848241	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4848861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848874	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848899	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4848971	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs4848973	0.88[CEU][hapmap]
rs4848979	0.81[JPT][hapmap]
rs4848980	0.88[CEU][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap]
rs6541942	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716528	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6722814	0.81[JPT][hapmap]
rs6731215	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743523	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6754526	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6755101	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71414616	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7349221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7370418	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74182850	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7578435	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7595212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604403	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870761	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870763	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv834333	chr2:112490211-112658347	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv961869	chr2:112645626-112660962	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv3437465	chr2:112654906-112657454	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6736093	FBLN7	cis	parietal	SCAN
rs6736093	POLR1B	cis	cerebellum	SCAN
rs6736093	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112653600-112655400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:112653600-112655400	Enhancers	Esophagus	oesophagus
3	chr2:112653600-112655400	Enhancers	Spleen	Spleen
4	chr2:112654400-112655400	Enhancers	Gastric	stomach
5	chr2:112654400-112655400	Enhancers	Pancreas	Pancrea
6	chr2:112654800-112655400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:112654800-112655600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:112654800-112655600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:112654800-112655600	Flanking Active TSS	Dnd41	blood
10	chr2:112655000-112655400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:112655000-112655400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr2:112655000-112655400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr2:112655000-112655400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr2:112655000-112655400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:112655000-112655400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:112655000-112655400	Enhancers	Liver	Liver
17	chr2:112655000-112655400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr2:112655000-112655400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:112655000-112655400	Flanking Active TSS	Fetal Heart	heart
20	chr2:112655000-112655400	Flanking Active TSS	Fetal Kidney	kidney
21	chr2:112655000-112655400	Enhancers	Lung	lung
22	chr2:112655000-112655400	Enhancers	Ovary	ovary
23	chr2:112655000-112655400	Enhancers	Psoas Muscle	Psoas
24	chr2:112655000-112655400	Flanking Active TSS	A549	lung
25	chr2:112655000-112655400	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr2:112655000-112655400	Flanking Active TSS	HSMMtube	muscle
27	chr2:112655000-112655600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr2:112655000-112655600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:112655000-112655600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:112655000-112655600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr2:112655000-112655600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:112655000-112655600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:112655000-112655600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:112655000-112655600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:112655000-112655600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:112655000-112655600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:112655000-112655600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:112655000-112655600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr2:112655000-112655600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr2:112655000-112655600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr2:112655000-112655600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
42	chr2:112655000-112655600	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr2:112655000-112655600	Flanking Active TSS	Fetal Lung	lung
44	chr2:112655000-112655600	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr2:112655000-112655600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr2:112655000-112655600	Flanking Active TSS	HUVEC	blood vessel
47	chr2:112655000-112655600	Flanking Active TSS	K562	blood
48	chr2:112655000-112655600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:112655000-112655800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:112655000-112655800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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