Variant report

Variant	rs34917612
Chromosome Location	chr6:44215556-44215557
allele	A/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	POLR2A	chr6:44213627-44216136	GM19099	blood:	n/a	n/a
2	RCOR1	chr6:44213907-44215751	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:44213918-44217034	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:44213708-44215697	SK-N-SH	brain:	n/a	chr6:44215253-44215260 chr6:44215637-44215646 chr6:44215594-44215610 chr6:44214210-44214219
5	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
6	MYC	chr6:44213959-44215748	Hela-S3	cervix:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
7	GABPA	chr6:44214625-44216033	MCF-7	breast:	n/a	chr6:44214681-44214690
8	EP300	chr6:44212956-44216963	SK-N-SH	brain:	n/a	chr6:44215253-44215260 chr6:44215637-44215646 chr6:44215594-44215610 chr6:44214210-44214219 chr6:44216157-44216171
9	REST	chr6:44214358-44215617	K562	blood:	n/a	chr6:44215294-44215307
10	FOSL2	chr6:44214481-44215599	MCF-7	breast:	n/a	chr6:44215316-44215324 chr6:44215315-44215325 chr6:44215315-44215325 chr6:44215315-44215325 chr6:44215314-44215326
11	GTF2F1	chr6:44213948-44216143	K562	blood:	n/a	n/a
12	REST	chr6:44214407-44215773	PFSK-1	brain:	n/a	chr6:44215294-44215307
13	POLR2A	chr6:44213586-44216006	HUVEC	blood vessel:	n/a	n/a
14	YY1	chr6:44214433-44215853	GM12891	blood:	n/a	chr6:44214681-44214690 chr6:44215706-44215725 chr6:44215212-44215226 chr6:44214506-44214517 chr6:44215231-44215250 chr6:44215233-44215243 chr6:44215232-44215244 chr6:44215708-44215730 chr6:44215215-44215229
15	GABPA	chr6:44214989-44215905	K562	blood:	n/a	n/a
16	NR2F2	chr6:44214531-44215815	K562	blood:	n/a	n/a
17	YY1	chr6:44215464-44215877	HepG2	liver:	n/a	chr6:44215706-44215725 chr6:44215708-44215730
18	MAZ	chr6:44213807-44215837	Hela-S3	cervix:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
19	MAZ	chr6:44213723-44215921	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
20	TBP	chr6:44213853-44215566	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
22	MAX	chr6:44213504-44215807	H1-hESC	embryonic stem cell:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
23	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
24	MYC	chr6:44214049-44215833	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
25	CREB1	chr6:44213691-44215933	K562	blood:	n/a	n/a
26	MYC	chr6:44213943-44215867	K562	blood:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
27	HSF1	chr6:44213910-44215764	HepG2	liver:	n/a	chr6:44215568-44215580 chr6:44215573-44215585 chr6:44215510-44215522 chr6:44215515-44215527 chr6:44215573-44215585 chr6:44214187-44214199 chr6:44215567-44215583 chr6:44215573-44215585 chr6:44215515-44215527 chr6:44214185-44214200 chr6:44214174-44214190 chr6:44215514-44215530 chr6:44215463-44215475 chr6:44215568-44215580 chr6:44215563-44215575 chr6:44215568-44215580 chr6:44215563-44215575 chr6:44215463-44215475
28	TAF1	chr6:44213371-44215814	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
30	ETS1	chr6:44215009-44215790	K562	blood:	n/a	chr6:44215252-44215261 chr6:44215252-44215261 chr6:44215250-44215260
31	PBX3	chr6:44214473-44215632	A549	lung:	n/a	n/a
32	NFATC1	chr6:44213529-44216283	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:44214006-44217220	Hela-S3	cervix:	n/a	n/a
34	ELK4	chr6:44214711-44215625	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr6:44214072-44216815	K562	blood:	n/a	n/a
36	EGR1	chr6:44214444-44215776	K562	blood:	n/a	chr6:44214649-44214663 chr6:44215252-44215261 chr6:44215212-44215222 chr6:44214650-44214661 chr6:44214649-44214662 chr6:44214651-44214661 chr6:44214679-44214693 chr6:44214651-44214661 chr6:44215639-44215649 chr6:44214682-44214695 chr6:44214649-44214662 chr6:44214681-44214696 chr6:44214648-44214663 chr6:44215638-44215651 chr6:44215294-44215304 chr6:44214650-44214661
37	RCOR1	chr6:44213685-44216124	K562	blood:	n/a	n/a
38	ZNF143	chr6:44215391-44215675	H1-hESC	embryonic stem cell:	n/a	n/a
39	POU2F2	chr6:44213901-44215839	GM12878	blood:	n/a	chr6:44215489-44215501 chr6:44214123-44214135 chr6:44214248-44214260
40	RFX5	chr6:44213954-44215752	Hela-S3	cervix:	n/a	n/a
41	KAP1	chr6:44214798-44216205	K562	blood:	n/a	chr6:44215136-44215144
42	STAT1	chr6:44213687-44215842	GM12878	blood:	n/a	chr6:44214676-44214688 chr6:44215495-44215507 chr6:44215496-44215508 chr6:44215617-44215629 chr6:44213999-44214011
43	HEY1	chr6:44213865-44215979	K562	blood:	n/a	chr6:44214705-44214714
44	ZBTB7A	chr6:44215052-44215746	K562	blood:	n/a	chr6:44215638-44215647
45	BCLAF1	chr6:44214480-44215856	GM12878	blood:	n/a	chr6:44215593-44215606 chr6:44215252-44215261 chr6:44215216-44215229
46	ELF1	chr6:44214449-44215830	MCF-7	breast:	n/a	n/a
47	SIN3AK20	chr6:44214629-44215941	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:44213514-44215736	ProgFib	skin:	n/a	n/a
49	ZNF263	chr6:44213729-44215833	HEK293-T-REx	kidney:	n/a	chr6:44213766-44213775 chr6:44214000-44214009
50	POLR2A	chr6:44214501-44217212	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
2	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
3	chr6:43740852..43742547-chr6:44215186..44217318,2	K562	blood:
4	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
5	chr6:44124294..44127284-chr6:44213791..44216257,3	MCF-7	breast:
6	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
7	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
8	chr6:27832024..27834412-chr6:44214386..44216392,2	MCF-7	breast:
9	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
10	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
11	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
12	chr5:54522831..54523739-chr6:44215189..44215716,2	Hela-S3	cervix:
13	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
14	chr19:11201953..11202889-chr6:44215033..44215563,2	Hela-S3	cervix:
15	chr17:4851272..4851921-chr6:44214853..44215698,2	Hela-S3	cervix:
16	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
17	chr5:180236324..180238724-chr6:44214143..44216444,2	MCF-7	breast:
18	chr6:44106717..44108316-chr6:44214110..44216405,3	K562	blood:
19	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
20	chr6:44187521..44192952-chr6:44212221..44217106,13	MCF-7	breast:
21	chr6:44194649..44200475-chr6:44213732..44216333,8	MCF-7	breast:
22	chr16:88636425..88637336-chr6:44214950..44215732,2	Hela-S3	cervix:
23	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
24	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
25	chr6:44100712..44103659-chr6:44213625..44216259,3	K562	blood:
26	chr12:14923098..14923839-chr6:44214864..44215703,3	Hela-S3	cervix:
27	chr10:6186819..6188569-chr6:44214871..44216412,2	K562	blood:
28	chr6:44214120..44215707-chr6:44224252..44225325,5	Hela-S3	cervix:
29	chr14:21151954..21152592-chr6:44214633..44215628,2	Hela-S3	cervix:
30	chr6:43738049..43742352-chr6:44213795..44216744,7	K562	blood:
31	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:
32	chr14:75746241..75746882-chr6:44214803..44215567,2	Hela-S3	cervix:

Variant related genes	Relation type
HSP90AB1	TF binding region
ENSG00000198374	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000131446	Chromatin interaction
ENSG00000234602	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000108515	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000158545	Chromatin interaction
ENSG00000197837	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000217646	Chromatin interaction
ENSG00000231881	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35354215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 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	chr6:44213200-44216000	Active TSS	Colon Smooth Muscle	Colon
2	chr6:44213200-44216000	Bivalent/Poised TSS	HepG2	liver
3	chr6:44213400-44215600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:44213400-44215600	Active TSS	Primary T cells from cord blood	blood
5	chr6:44213400-44216000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:44213400-44216200	Active TSS	Fetal Kidney	kidney
7	chr6:44213400-44216400	Active TSS	Fetal Brain Female	brain
8	chr6:44213400-44216400	Active TSS	Psoas Muscle	Psoas
9	chr6:44213600-44215600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:44213600-44215600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:44213600-44215600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:44213600-44215800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:44213600-44216000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:44213600-44216000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:44213600-44216000	Active TSS	Brain Angular Gyrus	brain
16	chr6:44213600-44216000	Active TSS	Brain Anterior Caudate	brain
17	chr6:44213600-44216000	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:44213600-44216000	Active TSS	Rectal Smooth Muscle	rectum
19	chr6:44213600-44216200	Active TSS	Lung	lung
20	chr6:44213600-44216400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:44213600-44216400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:44213600-44216400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:44213600-44216600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:44213600-44216600	Active TSS	Aorta	Aorta
25	chr6:44213600-44216600	Active TSS	Ovary	ovary
26	chr6:44213600-44217000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:44213800-44215600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:44213800-44215600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:44213800-44215600	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:44213800-44215600	Active TSS	Brain Hippocampus Middle	brain
31	chr6:44213800-44215800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:44213800-44215800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:44213800-44215800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr6:44213800-44215800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:44213800-44215800	Active TSS	Fetal Lung	lung
36	chr6:44213800-44215800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr6:44213800-44215800	Active TSS	Thymus	Thymus
38	chr6:44213800-44215800	Active TSS	Spleen	Spleen
39	chr6:44213800-44215800	Active TSS	GM12878-XiMat	blood
40	chr6:44213800-44215800	Active TSS	K562	blood
41	chr6:44213800-44216000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:44213800-44216000	Active TSS	Brain Substantia Nigra	brain
43	chr6:44213800-44216000	Active TSS	Esophagus	oesophagus
44	chr6:44213800-44216000	Active TSS	Fetal Intestine Large	intestine
45	chr6:44213800-44216000	Active TSS	Gastric	stomach
46	chr6:44213800-44216000	Active TSS	Small Intestine	intestine
47	chr6:44213800-44216000	Active TSS	NH-A	brain
48	chr6:44213800-44216000	Active TSS	NHDF-Ad	bronchial
49	chr6:44213800-44216200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:44213800-44216200	Active TSS	Stomach Mucosa	stomach

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