Variant report

Variant	rs182820
Chromosome Location	chr4:2794954-2794955
allele	A/C
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	POLR2A	chr4:2794591-2795082	HUVEC	blood vessel:	n/a	n/a
2	ZBTB7A	chr4:2794218-2795464	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr4:2794098-2795112	HCT-116	colon:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
4	ZBTB7A	chr4:2794770-2795094	HepG2	liver:	n/a	n/a
5	E2F6	chr4:2794153-2794988	K562	blood:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
6	SMARCB1	chr4:2794940-2796147	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:2794635-2795177	U87	brain:	n/a	n/a
8	POLR2A	chr4:2794514-2794963	HCT-116	colon:	n/a	n/a
9	POLR2A	chr4:2794628-2794980	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:2794727-2795000	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:2794670-2795012	K562	blood:	n/a	n/a
12	HA-E2F1	chr4:2794583-2795006	Hela-S3	cervix:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
13	ZBTB7A	chr4:2794414-2795651	K562	blood:	n/a	n/a
14	POLR2A	chr4:2794633-2795029	HCT-116	colon:	n/a	n/a
15	POLR2A	chr4:2794425-2795000	HUVEC	blood vessel:	n/a	n/a
16	MAZ	chr4:2794403-2795121	IMR90	lung:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
17	SIN3AK20	chr4:2794609-2795028	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr4:2794774-2794975	IMR90	lung:	n/a	n/a
19	ZBTB7A	chr4:2794263-2795708	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr4:2794683-2795050	PANC-1	pancreas:	n/a	n/a
21	STAT1	chr4:2794835-2796475	Hela-S3	cervix:	n/a	chr4:2795392-2795412 chr4:2795392-2795412 chr4:2795390-2795402 chr4:2795397-2795406 chr4:2795396-2795407 chr4:2795398-2795407 chr4:2795398-2795406
22	E2F6	chr4:2794308-2794988	A549	lung:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
23	ZBTB7A	chr4:2794445-2795639	K562	blood:	n/a	n/a
24	POLR2A	chr4:2794642-2795034	Gliobla	brain:	n/a	n/a
25	E2F6	chr4:2794105-2794959	H1-hESC	embryonic stem cell:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
26	POLR2A	chr4:2794688-2795030	K562	blood:	n/a	n/a
27	POLR2A	chr4:2794693-2794995	Hela-S3	cervix:	n/a	n/a
28	MAX	chr4:2794131-2794984	K562	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
29	MXI1	chr4:2794372-2797373	IMR90	lung:	n/a	n/a
30	POLR2A	chr4:2794477-2795006	MCF-7	breast:	n/a	n/a
31	MAX	chr4:2793405-2794961	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2793915-2793924 chr4:2794622-2794629 chr4:2794621-2794630
32	MAX	chr4:2794200-2795046	A549	lung:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
33	POLR2A	chr4:2794529-2794969	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr4:2794413-2794954	K562	blood:	n/a	n/a
35	POLR2A	chr4:2794139-2795103	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:2794639-2795005	GM15510	blood:	n/a	n/a
37	MAX	chr4:2794301-2794980	ECC-1	luminal epithelium:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
38	POLR2A	chr4:2794290-2795029	K562	blood:	n/a	n/a
39	RCOR1	chr4:2794917-2797027	IMR90	lung:	n/a	n/a
40	ELF1	chr4:2794937-2795743	GM12878	blood:	n/a	chr4:2795152-2795164
41	UBTF	chr4:2794641-2794954	K562	blood:	n/a	n/a
42	POLR2A	chr4:2794714-2795011	U87	brain:	n/a	n/a
43	YY1	chr4:2794334-2794959	HepG2	liver:	n/a	chr4:2794609-2794620 chr4:2794390-2794401 chr4:2794425-2794436
44	HEY1	chr4:2794722-2795056	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:2794622-2794993	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2794178..2796870-chr4:2828744..2832985,4	MCF-7	breast:
2	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
3	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
6	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
7	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
8	chr4:2793663..2796017-chr4:2810077..2811741,2	MCF-7	breast:
9	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
10	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
11	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
12	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:
13	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
14	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1263449	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1271256	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs172998	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1751848	0.80[ASN][1000 genomes]
rs190160	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs231334	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs231339	0.80[ASN][1000 genomes]
rs382379	0.80[ASN][1000 genomes]
rs390288	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs397292	0.80[ASN][1000 genomes]
rs407770	0.80[ASN][1000 genomes]
rs408102	0.94[ASN][1000 genomes]
rs419096	0.80[ASN][1000 genomes]
rs743691	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs762833	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs762834	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv3439511	chr4:2793779-2796327	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3430511	chr4:2794104-2796177	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
2	chr4:2790600-2795000	Weak transcription	HSMMtube	muscle
3	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:2791000-2795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:2793400-2795000	Enhancers	Stomach Mucosa	stomach
8	chr4:2794200-2795000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:2794200-2795000	Bivalent Enhancer	Fetal Thymus	thymus
10	chr4:2794200-2795600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:2794200-2795600	Active TSS	Small Intestine	intestine
12	chr4:2794400-2795000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:2794400-2795000	Enhancers	Liver	Liver
14	chr4:2794400-2795000	Active TSS	Brain Germinal Matrix	brain
15	chr4:2794400-2795000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:2794400-2795000	Weak transcription	Spleen	Spleen
17	chr4:2794400-2795400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:2794400-2795400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:2794400-2795400	Active TSS	Adipose Nuclei	Adipose
20	chr4:2794400-2795400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:2794400-2795400	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:2794400-2795400	Active TSS	K562	blood
23	chr4:2794400-2795600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:2794400-2795600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:2794400-2795600	Enhancers	Fetal Brain Male	brain
26	chr4:2794400-2795600	Active TSS	Fetal Brain Female	brain
27	chr4:2794400-2795800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:2794400-2796000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:2794400-2796000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:2794600-2795000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:2794600-2795000	Weak transcription	Primary T cells from cord blood	blood
32	chr4:2794600-2795000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr4:2794600-2795000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:2794600-2795000	Weak transcription	GM12878-XiMat	blood
35	chr4:2794600-2795200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:2794600-2795200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:2794600-2795200	Active TSS	Brain Hippocampus Middle	brain
38	chr4:2794600-2795200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr4:2794600-2795200	Active TSS	Stomach Smooth Muscle	stomach
40	chr4:2794600-2795400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:2794600-2795400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr4:2794600-2795400	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:2794600-2795400	Active TSS	Right Atrium	heart
44	chr4:2794600-2795400	Active TSS	Right Ventricle	heart
45	chr4:2794600-2795400	Active TSS	A549	lung
46	chr4:2794600-2795600	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr4:2794600-2795600	Active TSS	Ovary	ovary
48	chr4:2794600-2795600	Active TSS	HepG2	liver
49	chr4:2794800-2795000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:2794800-2795000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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