Variant report

Variant	rs7357146
Chromosome Location	chr7:11012852-11012853
allele	C/T
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	chr7:11012772-11013774	GM12878	blood:	n/a	n/a
2	EP300	chr7:11012580-11013649	K562	blood:	n/a	chr7:11013499-11013508 chr7:11013495-11013509 chr7:11013457-11013466 chr7:11013212-11013226
3	MAX	chr7:11012778-11013724	K562	blood:	n/a	n/a
4	POLR2A	chr7:11012780-11014619	K562	blood:	n/a	n/a
5	ELF1	chr7:11012666-11013786	MCF-7	breast:	n/a	n/a
6	CHD2	chr7:11012492-11014344	Hela-S3	cervix:	n/a	n/a
7	MYC	chr7:11012600-11014554	K562	blood:	n/a	n/a
8	CEBPB	chr7:11012578-11013142	A549	lung:	n/a	n/a
9	HNF4G	chr7:11012541-11013140	HepG2	liver:	n/a	chr7:11012807-11012822
10	GABPA	chr7:11012635-11013891	SK-N-SH	brain:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013442-11013453
11	NFYA	chr7:11012645-11012936	GM12878	blood:	n/a	chr7:11012827-11012845
12	ATF1	chr7:11012682-11013593	K562	blood:	n/a	n/a
13	POLR2A	chr7:11012695-11014416	GM18951	blood:	n/a	n/a
14	POLR2A	chr7:11012616-11015144	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr7:11012735-11013766	Hela-S3	cervix:	n/a	n/a
16	FOSL2	chr7:11012852-11013747	A549	lung:	n/a	chr7:11013497-11013506
17	GABPA	chr7:11012556-11013753	A549	lung:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013442-11013453
18	POLR2A	chr7:11012469-11014389	HepG2	liver:	n/a	n/a
19	JUND	chr7:11012673-11013709	K562	blood:	n/a	chr7:11013497-11013506
20	FOXA1	chr7:11012551-11013031	HepG2	liver:	n/a	n/a
21	SP2	chr7:11012482-11013090	HepG2	liver:	n/a	n/a
22	GABPA	chr7:11012836-11013068	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr7:11012702-11013703	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3AK20	chr7:11012746-11014456	SK-N-SH	brain:	n/a	n/a
25	MXI1	chr7:11012562-11014365	HepG2	liver:	n/a	n/a
26	MAZ	chr7:11012692-11013687	GM12878	blood:	n/a	n/a
27	MXI1	chr7:11012749-11013653	Hela-S3	cervix:	n/a	n/a
28	MYC	chr7:11012725-11014525	K562	blood:	n/a	n/a
29	POLR2A	chr7:11012506-11014471	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:11012841-11014248	GM15510	blood:	n/a	n/a
31	CEBPB	chr7:11012593-11013441	A549	lung:	n/a	n/a
32	NR2F2	chr7:11012569-11013040	K562	blood:	n/a	n/a
33	POLR2A	chr7:11012612-11014528	Hela-S3	cervix:	n/a	n/a
34	FOXA1	chr7:11012576-11013132	HepG2	liver:	n/a	n/a
35	SREBP1	chr7:11012490-11013103	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:11012783-11014437	K562	blood:	n/a	n/a
37	NFYA	chr7:11012395-11013549	K562	blood:	n/a	chr7:11012827-11012845
38	CEBPB	chr7:11012554-11013607	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr7:11012603-11013760	K562	blood:	n/a	n/a
40	ZNF384	chr7:11012524-11012875	K562	blood:	n/a	n/a
41	FOS	chr7:11012680-11013057	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:11012680-11014466	K562	blood:	n/a	n/a
43	POLR2A	chr7:11012786-11014466	Hela-S3	cervix:	n/a	n/a
44	MYC	chr7:11012173-11014780	A549	lung:	n/a	n/a
45	POLR2A	chr7:11012716-11013729	Hela-S3	cervix:	n/a	n/a
46	CEBPD	chr7:11012755-11013120	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:11012560-11014393	ECC-1	luminal epithelium:	n/a	n/a
48	TAL1	chr7:11012693-11013201	K562	blood:	n/a	n/a
49	POLR2A	chr7:11012765-11014483	K562	blood:	n/a	n/a
50	GABPA	chr7:11012624-11014000	MCF-7	breast:	n/a	chr7:11013444-11013453 chr7:11013442-11013451 chr7:11013442-11013456 chr7:11013439-11013453 chr7:11013442-11013453

No.	Distal block	Cell Line	Cell type
1	chr7:11007370..11009612-chr7:11011024..11013340,2	MCF-7	breast:
2	chr7:11012745..11013588-chrX:16737490..16738055,2	Hela-S3	cervix:
3	chr7:10972277..10974447-chr7:11011761..11013440,2	K562	blood:
4	chr7:10996449..11000162-chr7:11009366..11013332,3	K562	blood:
5	chr7:11012451..11014446-chr7:11075009..11077346,2	MCF-7	breast:
6	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
7	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
8	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
9	chr11:73019220..73019808-chr7:11012749..11013563,2	HCT-116	colon:
10	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000106443	Chromatin interaction
ENSG00000169895	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10231114	0.86[AFR][1000 genomes]
rs10238895	0.95[AFR][1000 genomes]
rs10240831	0.83[AFR][1000 genomes]
rs10253375	0.93[AFR][1000 genomes]
rs10256300	0.91[AFR][1000 genomes]
rs10263193	0.92[AFR][1000 genomes]
rs10263323	0.90[AFR][1000 genomes]
rs10263654	0.99[AFR][1000 genomes]
rs10267002	0.88[AFR][1000 genomes]
rs10267293	0.86[AFR][1000 genomes]
rs1026903	0.92[AFR][1000 genomes]
rs10269354	0.85[AFR][1000 genomes]
rs10277845	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12112182	0.94[AFR][1000 genomes]
rs16876763	0.95[AFR][1000 genomes]
rs16876770	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17163856	0.99[AFR][1000 genomes]
rs17163867	0.99[AFR][1000 genomes]
rs17163917	0.91[AFR][1000 genomes]
rs2160059	0.81[AFR][1000 genomes]
rs28542277	0.99[AFR][1000 genomes]
rs28682560	0.87[AFR][1000 genomes]
rs4348382	0.95[EUR][1000 genomes]
rs4398795	0.95[EUR][1000 genomes]
rs6943167	0.92[AFR][1000 genomes]
rs6950505	0.95[EUR][1000 genomes]
rs6955020	0.99[AFR][1000 genomes]
rs6970876	0.94[EUR][1000 genomes]
rs7789137	0.86[AFR][1000 genomes]
rs7810016	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3447442	chr7:10985761-11013298	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11012200-11014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:11012400-11013000	Flanking Active TSS	Liver	Liver
3	chr7:11012400-11013000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr7:11012400-11013000	Flanking Active TSS	K562	blood
5	chr7:11012400-11014000	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:11012400-11014200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:11012400-11014200	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:11012400-11014200	Active TSS	Stomach Smooth Muscle	stomach
9	chr7:11012400-11014600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:11012400-11014600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:11012400-11014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:11012400-11014600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:11012400-11015000	Active TSS	HepG2	liver
14	chr7:11012400-11015800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:11012400-11016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:11012600-11013000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:11012600-11013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:11012600-11013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:11012600-11013000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr7:11012600-11013200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr7:11012600-11013200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr7:11012600-11014000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr7:11012600-11014200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:11012600-11014200	Active TSS	Brain Angular Gyrus	brain
27	chr7:11012600-11014200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:11012600-11014200	Active TSS	Brain Substantia Nigra	brain
29	chr7:11012600-11014200	Active TSS	NH-A	brain
30	chr7:11012600-11014400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr7:11012600-11014400	Active TSS	Fetal Intestine Large	intestine
32	chr7:11012600-11014400	Active TSS	HMEC	breast
33	chr7:11012600-11014600	Active TSS	Brain Anterior Caudate	brain
34	chr7:11012600-11014600	Active TSS	Fetal Brain Female	brain
35	chr7:11012600-11014600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:11012600-11015200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:11012600-11015600	Active TSS	A549	lung
38	chr7:11012800-11013000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:11012800-11013000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:11012800-11013000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:11012800-11013000	Enhancers	Fetal Heart	heart
42	chr7:11012800-11013000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr7:11012800-11013000	Enhancers	Fetal Thymus	thymus
44	chr7:11012800-11013000	Active TSS	Hela-S3	cervix
45	chr7:11012800-11013200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr7:11012800-11013200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr7:11012800-11013200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr7:11012800-11013200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:11012800-11013200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:11012800-11013200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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