Variant report

Variant	rs2303943
Chromosome Location	chr7:150775344-150775345
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	chr7:150772671-150776737	PFSK-1	brain:	n/a	n/a
2	HEY1	chr7:150775206-150775645	K562	blood:	n/a	n/a
3	POLR2A	chr7:150775284-150775414	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:150770896-150778995	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr7:150771355-150780971	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:150774972-150775541	HUVEC	blood vessel:	n/a	n/a
7	STAT1	chr7:150775241-150775671	K562	blood:	n/a	chr7:150775458-150775469 chr7:150775457-150775471 chr7:150775459-150775468 chr7:150775460-150775469
8	POLR2A	chr7:150775267-150775427	A549	lung:	n/a	n/a
9	STAT1	chr7:150775258-150775693	K562	blood:	n/a	chr7:150775458-150775469 chr7:150775457-150775471 chr7:150775459-150775468 chr7:150775460-150775469
10	BCL3	chr7:150772904-150775855	A549	lung:	n/a	n/a
11	POLR2A	chr7:150771396-150776453	U87	brain:	n/a	n/a
12	CCNT2	chr7:150775290-150775782	K562	blood:	n/a	n/a
13	POLR2A	chr7:150774440-150776255	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr7:150774898-150775609	SK-N-MC	brain:	n/a	n/a
15	ZBTB7A	chr7:150775238-150775430	K562	blood:	n/a	n/a
16	POLR2A	chr7:150770802-150778585	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:150773687-150776244	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr7:150774923-150775861	GM19099	blood:	n/a	n/a
19	POLR2A	chr7:150775202-150775854	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:150775258-150775461	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr7:150775116-150775897	K562	blood:	n/a	n/a
22	POLR2A	chr7:150774836-150775769	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr7:150772879-150776773	K562	blood:	n/a	n/a
24	POLR2A	chr7:150775142-150775566	HCT-116	colon:	n/a	n/a
25	POLR2A	chr7:150772743-150776397	GM12891	blood:	n/a	n/a
26	BHLHE40	chr7:150774949-150775866	K562	blood:	n/a	chr7:150775341-150775350
27	POLR2A	chr7:150771543-150778346	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr7:150775252-150775426	A549	lung:	n/a	n/a
29	POLR2A	chr7:150772413-150778806	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr7:150773713-150778372	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:150773835-150776542	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:150773866-150775980	Raji	blood:	n/a	n/a
33	POLR2A	chr7:150775046-150776624	GM12892	blood:	n/a	n/a
34	POLR2A	chr7:150771432-150776444	U87	brain:	n/a	n/a
35	POLR2A	chr7:150775007-150775687	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr7:150775288-150775521	K562	blood:	n/a	n/a
37	POLR2A	chr7:150773755-150776004	ProgFib	skin:	n/a	n/a
38	STAT1	chr7:150775132-150775922	Hela-S3	cervix:	n/a	chr7:150775458-150775469 chr7:150775457-150775471 chr7:150775459-150775468 chr7:150775460-150775469
39	POLR2A	chr7:150773866-150776188	GM19193	blood:	n/a	n/a
40	POLR2A	chr7:150771379-150780837	K562	blood:	n/a	n/a
41	MAZ	chr7:150775299-150775486	K562	blood:	n/a	n/a
42	POLR2A	chr7:150773710-150776206	A549	lung:	n/a	n/a
43	POLR2A	chr7:150772532-150775455	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr7:150772250-150776191	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:150775079-150778314	GM12891	blood:	n/a	n/a
46	POLR2A	chr7:150775166-150775658	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr7:150775159-150775624	K562	blood:	n/a	n/a
48	POLR2A	chr7:150772858-150776396	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:150775247-150775514	GM12878	blood:	n/a	n/a
50	MAX	chr7:150775225-150775556	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150775206..150778180-chr7:150932374..150934759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244151	TF binding region
FASTK	TF binding region
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10267625	1.00[ASN][1000 genomes]
rs2303936	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35662595	1.00[ASN][1000 genomes]
rs3815980	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
9	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
12	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
15	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
17	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
21	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
23	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
24	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
25	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
26	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150758400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150758800-150775800	Strong transcription	Thymus	Thymus
3	chr7:150759000-150775400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:150759200-150776400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:150759400-150775600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:150760400-150775400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:150760600-150776800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:150760800-150775400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:150760800-150776600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:150761200-150775600	Strong transcription	Fetal Thymus	thymus
13	chr7:150761600-150775400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:150761600-150775800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:150765400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150765600-150777000	Weak transcription	Fetal Kidney	kidney
17	chr7:150765800-150776200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:150767600-150775600	Weak transcription	Psoas Muscle	Psoas
19	chr7:150768000-150776200	Weak transcription	HUVEC	blood vessel
20	chr7:150770600-150775400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:150770600-150775800	Strong transcription	Fetal Brain Female	brain
22	chr7:150770800-150776200	Strong transcription	Brain Cingulate Gyrus	brain
23	chr7:150771000-150776000	Weak transcription	Hela-S3	cervix
24	chr7:150772200-150775600	Weak transcription	GM12878-XiMat	blood
25	chr7:150772600-150776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:150772600-150776600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr7:150773000-150775400	Weak transcription	NH-A	brain
28	chr7:150773000-150775800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:150773000-150776400	Genic enhancers	Fetal Intestine Small	intestine
30	chr7:150773000-150776600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:150773000-150776600	Genic enhancers	Fetal Intestine Large	intestine
32	chr7:150773000-150776800	Genic enhancers	Placenta	Placenta
33	chr7:150773200-150775600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:150773200-150775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:150773200-150776000	Enhancers	Fetal Heart	heart
36	chr7:150773200-150776200	Weak transcription	Brain Substantia Nigra	brain
37	chr7:150773200-150776600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:150773200-150776600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:150773200-150776600	Weak transcription	Small Intestine	intestine
40	chr7:150773400-150775800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:150773400-150775800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:150773400-150776000	Weak transcription	Primary T cells from cord blood	blood
43	chr7:150773400-150776000	Weak transcription	HMEC	breast
44	chr7:150773400-150776600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:150773400-150776600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:150773400-150777200	Weak transcription	Aorta	Aorta
47	chr7:150773600-150775400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:150773600-150775800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:150773600-150777200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:150773800-150775600	Weak transcription	Liver	Liver

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