Variant report

Variant	rs9097
Chromosome Location	chr7:150778424-150778425
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	TAF1	chr7:150777165-150779381	K562	blood:	n/a	n/a
2	POLR2A	chr7:150777141-150778793	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:150770896-150778995	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr7:150771355-150780971	HepG2	liver:	n/a	n/a
5	GABPA	chr7:150777917-150778705	H1-hESC	embryonic stem cell:	n/a	chr7:150778130-150778139 chr7:150777982-150777991
6	UBTF	chr7:150777304-150779748	K562	blood:	n/a	n/a
7	SIN3A	chr7:150777118-150778643	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr7:150777570-150778626	K562	blood:	n/a	n/a
9	E2F6	chr7:150777236-150780026	K562	blood:	n/a	chr7:150777982-150777991 chr7:150778035-150778042 chr7:150778130-150778139
10	KAP1	chr7:150777472-150778486	K562	blood:	n/a	n/a
11	PML	chr7:150776986-150778733	K562	blood:	n/a	n/a
12	ELF1	chr7:150777589-150778776	K562	blood:	n/a	chr7:150778010-150778022
13	RCOR1	chr7:150777478-150778695	K562	blood:	n/a	n/a
14	E2F4	chr7:150777288-150778610	K562	blood:	n/a	chr7:150777987-150777998 chr7:150777982-150777991 chr7:150778035-150778042 chr7:150778130-150778139
15	YY1	chr7:150777056-150778802	K562	blood:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
16	POLR2A	chr7:150770802-150778585	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:150777066-150779047	ECC-1	luminal epithelium:	n/a	n/a
18	REST	chr7:150778221-150778622	K562	blood:	n/a	n/a
19	YY1	chr7:150777114-150778456	SK-N-SH	brain:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
20	POLR2A	chr7:150777099-150780798	K562	blood:	n/a	n/a
21	MXI1	chr7:150777058-150778928	HepG2	liver:	n/a	n/a
22	ETS1	chr7:150776923-150778654	K562	blood:	n/a	chr7:150777982-150777993 chr7:150777990-150778001
23	POLR2A	chr7:150777258-150778827	HepG2	liver:	n/a	n/a
24	ZKSCAN1	chr7:150778414-150778746	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:150777273-150778592	Hela-S3	cervix:	n/a	chr7:150778118-150778128 chr7:150778128-150778138
26	YY1	chr7:150777231-150778770	HepG2	liver:	n/a	chr7:150778010-150778024 chr7:150777974-150777988 chr7:150777866-150777886 chr7:150777868-150777880
27	HEY1	chr7:150777076-150780386	K562	blood:	n/a	chr7:150778008-150778023
28	MXI1	chr7:150776744-150779103	SK-N-SH	brain:	n/a	n/a
29	PML	chr7:150776986-150778857	K562	blood:	n/a	n/a
30	ZNF263	chr7:150777614-150778852	K562	blood:	n/a	chr7:150778045-150778066
31	POLR2A	chr7:150777541-150778667	HUVEC	blood vessel:	n/a	n/a
32	MAX	chr7:150777138-150778568	K562	blood:	n/a	chr7:150778013-150778023
33	MXI1	chr7:150776343-150779385	IMR90	lung:	n/a	n/a
34	MAZ	chr7:150777093-150781017	K562	blood:	n/a	chr7:150778013-150778023
35	ZBTB7A	chr7:150777834-150778601	ECC-1	luminal epithelium:	n/a	chr7:150778116-150778123
36	POLR2A	chr7:150777041-150779360	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr7:150772413-150778806	PFSK-1	brain:	n/a	n/a
38	BCLAF1	chr7:150777331-150778454	K562	blood:	n/a	n/a
39	POLR2A	chr7:150776616-150778973	U87	brain:	n/a	n/a
40	TAF1	chr7:150777134-150778729	ECC-1	luminal epithelium:	n/a	n/a
41	HA-E2F1	chr7:150777292-150778687	Hela-S3	cervix:	n/a	chr7:150777982-150777991 chr7:150778035-150778042 chr7:150778130-150778139
42	POLR2A	chr7:150777139-150779040	Hela-S3	cervix:	n/a	n/a
43	BHLHE40	chr7:150777189-150778506	K562	blood:	n/a	n/a
44	TBP	chr7:150777177-150780981	K562	blood:	n/a	n/a
45	POLR2A	chr7:150771379-150780837	K562	blood:	n/a	n/a
46	MAZ	chr7:150776207-150779380	IMR90	lung:	n/a	chr7:150778013-150778023
47	POLR2A	chr7:150776838-150779372	K562	blood:	n/a	n/a
48	HEY1	chr7:150777313-150778541	HepG2	liver:	n/a	chr7:150778008-150778023
49	ZBTB7A	chr7:150777066-150779672	K562	blood:	n/a	chr7:150778116-150778123
50	GABPA	chr7:150778416-150779277	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5568664..5571530-chr7:150777332..150779644,2	MCF-7	breast:
2	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
3	chr17:7387035..7388026-chr7:150777937..150778541,2	Hela-S3	cervix:
4	chr1:245133109..245133735-chr7:150778030..150778899,2	Hela-S3	cervix:

Variant related genes	Relation type
FASTK	TF binding region
ENSG00000244151	TF binding region
AGAP3	TF binding region
ENSG00000033100	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000203666	Chromatin interaction
ENSG00000174282	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10227172	0.80[ASN][1000 genomes]
rs12670760	0.83[ASN][1000 genomes]
rs13225215	0.82[ASN][1000 genomes]
rs13239507	0.82[ASN][1000 genomes]
rs2303942	0.87[EUR][1000 genomes]
rs28645628	0.80[ASN][1000 genomes]
rs4725388	0.81[ASN][1000 genomes]
rs6464124	0.81[ASN][1000 genomes]
rs6464125	0.82[ASN][1000 genomes]
rs6464126	0.82[ASN][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150776200-150779400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr7:150776400-150778600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:150776400-150780000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr7:150776600-150778800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:150776800-150781000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:150776800-150781200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:150777000-150778600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:150777000-150778600	Active TSS	Ovary	ovary
9	chr7:150777000-150778600	Active TSS	Placenta Amnion	Placenta Amnion
10	chr7:150777000-150778600	Active TSS	A549	lung
11	chr7:150777000-150778800	Active TSS	Right Atrium	heart
12	chr7:150777000-150781000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:150777200-150778600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:150777200-150778600	Active TSS	Colon Smooth Muscle	Colon
15	chr7:150777200-150778600	Active TSS	Esophagus	oesophagus
16	chr7:150777200-150778600	Active TSS	Fetal Intestine Small	intestine
17	chr7:150777200-150778600	Active TSS	Left Ventricle	heart
18	chr7:150777200-150778800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:150777200-150778800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:150777200-150778800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:150777200-150778800	Active TSS	HSMM	muscle
22	chr7:150777200-150779000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:150777200-150780600	Active TSS	Small Intestine	intestine
24	chr7:150777200-150780800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:150777400-150778600	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:150777400-150778600	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:150777400-150778600	Active TSS	K562	blood
28	chr7:150777400-150778800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:150777400-150778800	Active TSS	HepG2	liver
30	chr7:150777400-150779000	Active TSS	HSMMtube	muscle
31	chr7:150777600-150780600	Enhancers	Fetal Brain Male	brain
32	chr7:150777800-150778800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:150778000-150778600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr7:150778000-150778600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:150778000-150778600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:150778000-150778600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr7:150778000-150778600	Enhancers	NHDF-Ad	bronchial
38	chr7:150778000-150778800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:150778000-150778800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:150778000-150778800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:150778000-150778800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:150778000-150778800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:150778000-150779000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:150778000-150779000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:150778000-150779000	Flanking Active TSS	Fetal Brain Female	brain
46	chr7:150778000-150779000	Flanking Active TSS	HMEC	breast
47	chr7:150778000-150779000	Flanking Active TSS	NH-A	brain
48	chr7:150778000-150779800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:150778000-150779800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:150778000-150780000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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