Variant report

Variant	rs73413691
Chromosome Location	chr6:36165364-36165365
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	POLR2A	chr6:36163994-36165667	IMR90	lung:	n/a	n/a
2	E2F6	chr6:36164933-36165894	K562	blood:	n/a	chr6:36165508-36165516 chr6:36165007-36165016 chr6:36165440-36165449 chr6:36165506-36165517 chr6:36165728-36165743 chr6:36165509-36165516 chr6:36165507-36165517 chr6:36165508-36165516
3	POLR2A	chr6:36163833-36165846	K562	blood:	n/a	n/a
4	CREB1	chr6:36164985-36165440	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr6:36163762-36165393	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr6:36163770-36165445	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr6:36163977-36165400	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr6:36163893-36165546	ECC-1	luminal epithelium:	n/a	chr6:36165054-36165061
9	POLR2A	chr6:36163968-36165403	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr6:36164824-36165377	A549	lung:	n/a	chr6:36165011-36165021
11	REST	chr6:36163332-36165694	H1-neurons	neurons:	n/a	n/a
12	TAF1	chr6:36164772-36165390	PFSK-1	brain:	n/a	n/a
13	MAX	chr6:36164903-36165681	GM12878	blood:	n/a	chr6:36165011-36165021
14	POLR2A	chr6:36164966-36165583	A549	lung:	n/a	n/a
15	MAX	chr6:36163853-36165707	K562	blood:	n/a	chr6:36165011-36165021 chr6:36164451-36164461 chr6:36164162-36164171
16	POLR2A	chr6:36164074-36165420	PFSK-1	brain:	n/a	n/a
17	E2F6	chr6:36164906-36165420	H1-hESC	embryonic stem cell:	n/a	chr6:36165007-36165016
18	CREB1	chr6:36163586-36165456	HepG2	liver:	n/a	chr6:36164052-36164065
19	NFIC	chr6:36164854-36165366	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:36163339-36165840	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:36163987-36165374	K562	blood:	n/a	n/a
22	STAT5A	chr6:36164672-36165445	GM12878	blood:	n/a	n/a
23	ZBTB7A	chr6:36164615-36165486	ECC-1	luminal epithelium:	n/a	chr6:36165054-36165061
24	TAF1	chr6:36163784-36165406	H1-neurons	neurons:	n/a	n/a
25	CREB1	chr6:36164812-36165428	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP1	chr6:36164718-36165411	A549	lung:	n/a	chr6:36165050-36165059 chr6:36165005-36165017 chr6:36165006-36165015 chr6:36165204-36165216 chr6:36165049-36165060 chr6:36165006-36165016 chr6:36165206-36165215 chr6:36165006-36165015 chr6:36165204-36165216 chr6:36165049-36165061 chr6:36165006-36165016 chr6:36165017-36165038 chr6:36165205-36165214 chr6:36165007-36165016 chr6:36165005-36165017 chr6:36165049-36165061
27	NR2F2	chr6:36164813-36165458	K562	blood:	n/a	n/a
28	POLR2A	chr6:36163781-36165389	MCF-7	breast:	n/a	n/a
29	TBP	chr6:36163857-36165390	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:36164824-36165432	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr6:36164778-36165369	K562	blood:	n/a	n/a
32	POLR2A	chr6:36163834-36165437	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr6:36163833-36165525	H1-hESC	embryonic stem cell:	n/a	n/a
34	HEY1	chr6:36163875-36165373	K562	blood:	n/a	chr6:36165006-36165021 chr6:36164530-36164545 chr6:36164234-36164249
35	SP1	chr6:36164673-36165538	HCT-116	colon:	n/a	chr6:36165436-36165450 chr6:36165050-36165059 chr6:36165005-36165017 chr6:36165006-36165015 chr6:36165204-36165216 chr6:36165439-36165451 chr6:36165049-36165060 chr6:36165006-36165016 chr6:36165206-36165215 chr6:36165006-36165015 chr6:36165204-36165216 chr6:36165439-36165451 chr6:36165049-36165061 chr6:36165440-36165450 chr6:36165006-36165016 chr6:36165017-36165038 chr6:36165441-36165450 chr6:36165205-36165214 chr6:36165440-36165449 chr6:36165007-36165016 chr6:36165005-36165017 chr6:36165049-36165061
36	POLR2A	chr6:36164785-36165386	ECC-1	luminal epithelium:	n/a	n/a
37	E2F6	chr6:36164943-36165448	A549	lung:	n/a	chr6:36165007-36165016
38	SP2	chr6:36164791-36165371	HepG2	liver:	n/a	chr6:36165052-36165061 chr6:36165049-36165064 chr6:36165090-36165113
39	SP2	chr6:36164759-36165401	HepG2	liver:	n/a	chr6:36165052-36165061 chr6:36165049-36165064 chr6:36165090-36165113
40	PBX3	chr6:36164767-36165449	SK-N-SH	brain:	n/a	chr6:36165107-36165116 chr6:36165092-36165112
41	POLR2A	chr6:36163955-36165370	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:36163776-36165421	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:36164315-36165367	K562	blood:	n/a	n/a
44	NFYA	chr6:36164925-36165377	GM12878	blood:	n/a	chr6:36165136-36165146 chr6:36165104-36165119 chr6:36165106-36165116
45	NFYB	chr6:36164789-36165421	GM12878	blood:	n/a	chr6:36165136-36165146 chr6:36165101-36165116 chr6:36165104-36165119 chr6:36165106-36165116
46	TEAD4	chr6:36164800-36165364	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:36163824-36165455	Raji	blood:	n/a	n/a
48	YY1	chr6:36164093-36165391	SK-N-SH	brain:	n/a	chr6:36165010-36165019 chr6:36165007-36165016 chr6:36164526-36164540 chr6:36164701-36164715
49	POLR2A	chr6:36164776-36165373	HCT-116	colon:	n/a	n/a
50	POLR2A	chr6:36163977-36165366	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
2	chr6:35993989..35997402-chr6:36163188..36166883,8	MCF-7	breast:
3	chr11:82996519..82997293-chr6:36164993..36165533,2	Hela-S3	cervix:
4	chr6:36097672..36103046-chr6:36163327..36166048,5	MCF-7	breast:
5	chr6:36098131..36102554-chr6:36163258..36166179,4	K562	blood:
6	chr6:36164615..36166150-chr6:36409127..36410666,2	K562	blood:
7	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
8	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
9	chr6:36164534..36167237-chr6:36236407..36238243,2	MCF-7	breast:
10	chr6:36105269..36110195-chr6:36162724..36166768,9	MCF-7	breast:
11	chr15:75660425..75661076-chr6:36164710..36165398,2	HCT-116	colon:
12	chr6:36093292..36096677-chr6:36162699..36165787,6	K562	blood:

Variant related genes	Relation type
BRPF3	TF binding region
ENSG00000246982	TF binding region
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000221743	Chromatin interaction
ENSG00000180316	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000156711	Chromatin interaction
ENSG00000255234	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000137500	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55927421	0.88[AFR][1000 genomes]
rs56306008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57420421	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57747046	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707214	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59374232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59752650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61105253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61337522	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905700	0.83[EUR][1000 genomes]
rs73413679	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413692	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415509	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415510	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415515	0.81[AFR][1000 genomes]
rs73415528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770696	1.00[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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3355640	chr6:36163199-36165747	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3418753	chr6:36163624-36166272	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:36163000-36165800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:36163200-36165800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:36163200-36166200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:36163400-36165600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:36163400-36165600	Active TSS	Fetal Brain Female	brain
6	chr6:36163400-36165600	Active TSS	Fetal Intestine Large	intestine
7	chr6:36163400-36166000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:36163400-36166200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:36163400-36166400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:36163400-36166400	Active TSS	Fetal Kidney	kidney
11	chr6:36163600-36165400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr6:36163600-36165600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:36163600-36165600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:36163600-36165600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:36163600-36165600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:36163600-36165600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:36163600-36165600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:36163600-36165600	Active TSS	Brain Angular Gyrus	brain
19	chr6:36163600-36165600	Active TSS	Brain Substantia Nigra	brain
20	chr6:36163600-36165600	Active TSS	Colon Smooth Muscle	Colon
21	chr6:36163600-36165600	Active TSS	Fetal Stomach	stomach
22	chr6:36163600-36165600	Active TSS	Psoas Muscle	Psoas
23	chr6:36163600-36165600	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:36163600-36165800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:36163600-36165800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:36163600-36165800	Active TSS	Aorta	Aorta
27	chr6:36163600-36165800	Active TSS	A549	lung
28	chr6:36163600-36166000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:36163600-36166400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:36163800-36165400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:36163800-36165400	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:36163800-36165400	Active TSS	Gastric	stomach
33	chr6:36163800-36165400	Active TSS	Lung	lung
34	chr6:36163800-36165400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr6:36163800-36165400	Active TSS	Small Intestine	intestine
36	chr6:36163800-36165400	Active TSS	Spleen	Spleen
37	chr6:36163800-36165600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:36163800-36165600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:36163800-36165600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:36163800-36165600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:36163800-36165600	Active TSS	Esophagus	oesophagus
42	chr6:36163800-36165600	Active TSS	Fetal Intestine Small	intestine
43	chr6:36163800-36165600	Active TSS	Left Ventricle	heart
44	chr6:36163800-36165600	Active TSS	Ovary	ovary
45	chr6:36163800-36165600	Active TSS	Pancreas	Pancrea
46	chr6:36163800-36165600	Active TSS	Right Atrium	heart
47	chr6:36163800-36165600	Active TSS	Right Ventricle	heart
48	chr6:36163800-36165600	Active TSS	HSMMtube	muscle
49	chr6:36163800-36166200	Active TSS	HSMM	muscle
50	chr6:36164000-36165400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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