Variant report

Variant	rs6978173
Chromosome Location	chr7:112091432-112091433
allele	C/G
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	ELF1	chr7:112089787-112091603	MCF-7	breast:	n/a	chr7:112090582-112090594 chr7:112090278-112090290 chr7:112090852-112090861
2	SIN3AK20	chr7:112090309-112091577	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:112089864-112091716	HUVEC	blood vessel:	n/a	n/a
4	ZBTB33	chr7:112089911-112091556	SK-N-SH	brain:	n/a	chr7:112091005-112091020
5	TAF1	chr7:112089871-112091442	ECC-1	luminal epithelium:	n/a	n/a
6	HDAC2	chr7:112090085-112091625	MCF-7	breast:	n/a	chr7:112091534-112091553
7	HCFC1	chr7:112089902-112091637	K562	blood:	n/a	n/a
8	HA-E2F1	chr7:112090038-112091604	MCF-7	breast:	n/a	chr7:112090849-112090858 chr7:112090463-112090472 chr7:112090192-112090201 chr7:112090850-112090860 chr7:112090461-112090470 chr7:112091406-112091415
9	MYC	chr7:112089965-112091548	Hela-S3	cervix:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
10	MAZ	chr7:112089830-112091684	IMR90	lung:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
11	POLR2A	chr7:112089968-112092839	IMR90	lung:	n/a	n/a
12	RAD21	chr7:112091074-112091549	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:112091354-112091494	GM12891	blood:	n/a	n/a
14	TCF7L2	chr7:112089142-112091665	Hela-S3	cervix:	n/a	chr7:112089574-112089588 chr7:112089330-112089346 chr7:112089573-112089589 chr7:112089334-112089343 chr7:112089546-112089555 chr7:112089331-112089345 chr7:112089573-112089589 chr7:112089547-112089556 chr7:112089576-112089585 chr7:112089406-112089415 chr7:112089330-112089346 chr7:112089577-112089586
15	MXI1	chr7:112090293-112091437	K562	blood:	n/a	chr7:112091383-112091392 chr7:112090466-112090475
16	ZNF143	chr7:112089743-112091572	GM12878	blood:	n/a	chr7:112090298-112090317 chr7:112090358-112090376 chr7:112090982-112090997 chr7:112090912-112090921 chr7:112090851-112090861 chr7:112090294-112090312 chr7:112090910-112090919 chr7:112090296-112090305 chr7:112090301-112090316 chr7:112090979-112090998 chr7:112090975-112090984 chr7:112090037-112090056 chr7:112090977-112090986 chr7:112090903-112090921 chr7:112090975-112090993 chr7:112090365-112090374
17	JUND	chr7:112089972-112091580	H1-hESC	embryonic stem cell:	n/a	chr7:112090651-112090660 chr7:112090462-112090471 chr7:112091342-112091352
18	POLR2A	chr7:112089448-112092907	HepG2	liver:	n/a	n/a
19	TAF7	chr7:112090260-112091593	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr7:112090086-112091447	ECC-1	luminal epithelium:	n/a	chr7:112090503-112090514 chr7:112090849-112090858 chr7:112090189-112090198 chr7:112090276-112090290
21	POLR2A	chr7:112089557-112091609	MCF10A-Er-Src	breast:	n/a	n/a
22	CREB1	chr7:112089842-112091775	K562	blood:	n/a	n/a
23	MYC	chr7:112089116-112091490	MCF10A-Er-Src	breast:	n/a	chr7:112091407-112091417 chr7:112090448-112090458 chr7:112089253-112089263
24	SMC3	chr7:112089429-112091621	Hela-S3	cervix:	n/a	n/a
25	JUND	chr7:112089365-112091754	K562	blood:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112090651-112090660 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894 chr7:112091342-112091352
26	MAX	chr7:112089844-112091557	SK-N-SH	brain:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
27	POLR2A	chr7:112090034-112091622	GM12878	blood:	n/a	n/a
28	ZBTB33	chr7:112089921-112091600	SK-N-SH	brain:	n/a	chr7:112091005-112091020
29	SMARCC2	chr7:112088921-112091774	Hela-S3	cervix:	n/a	chr7:112089546-112089555 chr7:112090912-112090921 chr7:112089565-112089574 chr7:112090975-112090984 chr7:112089547-112089556
30	CREB1	chr7:112089976-112091572	A549	lung:	n/a	n/a
31	GTF2F1	chr7:112090099-112091506	K562	blood:	n/a	n/a
32	YY1	chr7:112090469-112091563	K562	blood:	n/a	chr7:112090503-112090514 chr7:112090849-112090858
33	PAX5	chr7:112090911-112091529	GM12892	blood:	n/a	n/a
34	TAF1	chr7:112089922-112091617	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr7:112090110-112091478	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr7:112090059-112091545	A549	lung:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
37	MYC	chr7:112089954-112091730	K562	blood:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
38	SIN3AK20	chr7:112089146-112091861	MCF-7	breast:	n/a	n/a
39	MAX	chr7:112089882-112091738	A549	lung:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
40	MYC	chr7:112090040-112091470	K562	blood:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
41	POLR2A	chr7:112089969-112091714	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:112090067-112091534	HCT-116	colon:	n/a	n/a
43	CREB1	chr7:112089925-112091602	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr7:112089813-112091704	K562	blood:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
45	POLR2A	chr7:112089912-112091667	GM12878	blood:	n/a	n/a
46	MAX	chr7:112089946-112091495	GM12878	blood:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
47	UBTF	chr7:112090001-112091701	K562	blood:	n/a	n/a
48	JUND	chr7:112089216-112091490	MCF-7	breast:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112090651-112090660 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894 chr7:112091342-112091352
49	TBP	chr7:112089955-112091761	K562	blood:	n/a	n/a
50	POLR2A	chr7:112090017-112091557	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:35796079..35796772-chr7:112090697..112091667,2	Hela-S3	cervix:
2	chr7:111977606..111981678-chr7:112089523..112092927,4	K562	blood:
3	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
4	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
5	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
6	chr5:17217250..17218193-chr7:112091218..112092135,2	Hela-S3	cervix:
7	chr7:112063038..112063762-chr7:112090886..112091437,2	NB4	blood:
8	chr2:85766106..85766752-chr7:112090730..112091594,2	NB4	blood:
9	chr17:40574802..40575657-chr7:112090535..112091509,2	Hela-S3	cervix:
10	chr1:175161040..175161921-chr7:112091025..112091650,2	Hela-S3	cervix:
11	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
12	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
13	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
14	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
15	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
16	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
17	chr16:2204889..2205793-chr7:112090487..112091446,3	Hela-S3	cervix:
18	chr11:119039633..119040301-chr7:112090579..112091531,2	Hela-S3	cervix:
19	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:
20	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
21	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
22	chr7:111926950..111929480-chr7:112089962..112091558,2	K562	blood:
23	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
24	chr1:28695841..28696739-chr7:112090908..112091784,2	Hela-S3	cervix:
25	chr7:112090464..112092274-chr7:112758271..112759774,2	K562	blood:
26	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
27	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:
28	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
29	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
30	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:
31	chr11:62608977..62609640-chr7:112091293..112092073,2	Hela-S3	cervix:
32	chr7:111986864..111991026-chr7:112090313..112092457,3	MCF-7	breast:
33	chr7:111379760..111381665-chr7:112090051..112092325,2	MCF-7	breast:
34	chr7:108209600..108213665-chr7:112090307..112092525,3	K562	blood:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000176788	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000160703	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000100297	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000146802	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000181016	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000198839	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000177469	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000202406	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000204138	Chromatin interaction
ENSG00000235750	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1024571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10487291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11773335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12531160	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12532656	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16873394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17132179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2041066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2041067	0.95[ASN][1000 genomes]
rs6956741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73201473	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73201481	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS 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	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 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	chr7:112089200-112092600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:112089400-112092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:112089600-112091800	Active TSS	Fetal Lung	lung
4	chr7:112089600-112091800	Active TSS	Stomach Mucosa	stomach
5	chr7:112089600-112092400	Active TSS	Fetal Intestine Small	intestine
6	chr7:112089600-112092600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:112089600-112092800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:112089600-112092800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:112089600-112092800	Active TSS	Fetal Kidney	kidney
10	chr7:112089600-112093000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:112089600-112093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:112089600-112093400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
16	chr7:112089800-112091800	Active TSS	Placenta	Placenta
17	chr7:112089800-112092200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:112089800-112092200	Active TSS	Brain Substantia Nigra	brain
19	chr7:112089800-112092200	Active TSS	Fetal Stomach	stomach
20	chr7:112089800-112092600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:112089800-112092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:112089800-112092600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:112089800-112092600	Active TSS	Brain Cingulate Gyrus	brain
24	chr7:112089800-112092600	Active TSS	Esophagus	oesophagus
25	chr7:112089800-112092600	Active TSS	Lung	lung
26	chr7:112089800-112092800	Active TSS	Ovary	ovary
27	chr7:112089800-112092800	Active TSS	Pancreas	Pancrea
28	chr7:112089800-112093000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:112089800-112093000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:112089800-112093000	Active TSS	Aorta	Aorta
31	chr7:112089800-112093000	Active TSS	Colon Smooth Muscle	Colon
32	chr7:112089800-112093000	Active TSS	Left Ventricle	heart
33	chr7:112089800-112093200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:112089800-112093400	Active TSS	A549	lung
35	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
38	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
39	chr7:112090000-112091600	Active TSS	Primary hematopoietic stem cells	blood
40	chr7:112090000-112091600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr7:112090000-112091600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:112090000-112091600	Active TSS	Brain Anterior Caudate	brain
43	chr7:112090000-112091600	Bivalent/Poised TSS	HepG2	liver
44	chr7:112090000-112091800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:112090000-112091800	Active TSS	Brain Hippocampus Middle	brain
46	chr7:112090000-112091800	Active TSS	Fetal Brain Female	brain
47	chr7:112090000-112091800	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:112090000-112091800	Active TSS	Small Intestine	intestine
49	chr7:112090000-112091800	Active TSS	Thymus	Thymus
50	chr7:112090000-112092000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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