Variant report

Variant	rs62390671
Chromosome Location	chr5:127873094-127873095
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	chr5:127873092-127873278	A549	lung:	n/a	n/a
2	CTCF	chr5:127872980-127873130	HCPEpiC	choroid plexus:	n/a	n/a
3	TAF1	chr5:127872851-127874735	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:127873069-127874650	ProgFib	skin:	n/a	n/a
5	MAZ	chr5:127872770-127875254	IMR90	lung:	n/a	chr5:127874030-127874039
6	POLR2A	chr5:127872976-127873327	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr5:127873046-127874145	Hela-S3	cervix:	n/a	chr5:127874030-127874039
8	POLR2A	chr5:127872889-127873625	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr5:127872653-127873279	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr5:127872970-127873223	Hela-S3	cervix:	n/a	n/a
11	ZNF143	chr5:127871987-127873493	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr5:127872912-127875135	NB4	blood:	n/a	chr5:127874030-127874039
13	E2F6	chr5:127872896-127874462	A549	lung:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872975-127872982
14	POLR2A	chr5:127872548-127873591	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:127872877-127873401	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:127872952-127873292	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
18	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
19	TAF1	chr5:127872976-127874506	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr5:127872385-127873640	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr5:127872216-127874746	H1-hESC	embryonic stem cell:	n/a	chr5:127874030-127874039
22	CTBP2	chr5:127871959-127875032	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:127873025-127873998	H1-neurons	neurons:	n/a	n/a
24	CHD2	chr5:127872915-127873565	Hela-S3	cervix:	n/a	n/a
25	MYC	chr5:127873079-127875173	NB4	blood:	n/a	chr5:127874030-127874039
26	E2F6	chr5:127872377-127874153	H1-hESC	embryonic stem cell:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872731-127872741 chr5:127872975-127872982
27	TAF1	chr5:127873062-127873343	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr5:127872867-127875155	A549	lung:	n/a	chr5:127874030-127874039
29	POLR2A	chr5:127872924-127874467	IMR90	lung:	n/a	n/a
30	MXI1	chr5:127871987-127875368	IMR90	lung:	n/a	n/a
31	POLR2A	chr5:127872948-127874492	HL-60	blood:	n/a	n/a
32	E2F6	chr5:127872888-127874170	H1-hESC	embryonic stem cell:	n/a	chr5:127872971-127872982 chr5:127874013-127874022 chr5:127872975-127872982
33	ZNF263	chr5:127872936-127874732	HEK293-T-REx	kidney:	n/a	chr5:127874137-127874158 chr5:127874177-127874198
34	RAD21	chr5:127871947-127873678	IMR90	lung:	n/a	chr5:127872705-127872719 chr5:127872703-127872717
35	POLR2A	chr5:127872958-127875128	MCF10A-Er-Src	breast:	n/a	n/a
36	BRCA1	chr5:127872994-127873173	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:127872796-127875284	A549	lung:	n/a	chr5:127874030-127874039
38	HA-E2F1	chr5:127873027-127874113	Hela-S3	cervix:	n/a	chr5:127874013-127874022
39	MAX	chr5:127872870-127874340	ECC-1	luminal epithelium:	n/a	chr5:127874030-127874039
40	MAX	chr5:127872959-127874317	ECC-1	luminal epithelium:	n/a	chr5:127874030-127874039
41	SIN3A	chr5:127871997-127875223	H1-hESC	embryonic stem cell:	n/a	chr5:127872272-127872286 chr5:127874925-127874938

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127871072..127873305-chr5:127875022..127876615,2	K562	blood:

Variant related genes	Relation type
SLC27A6	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10428638	0.87[EUR][1000 genomes]
rs11241967	1.00[EUR][1000 genomes]
rs11952739	0.92[EUR][1000 genomes]
rs13159754	1.00[EUR][1000 genomes]
rs13165744	0.87[EUR][1000 genomes]
rs13166978	0.91[AMR][1000 genomes]
rs13168117	1.00[EUR][1000 genomes]
rs13170312	1.00[EUR][1000 genomes]
rs13173006	0.87[EUR][1000 genomes]
rs13174726	1.00[EUR][1000 genomes]
rs13180032	0.87[EUR][1000 genomes]
rs13182099	1.00[EUR][1000 genomes]
rs13183752	0.87[EUR][1000 genomes]
rs13183908	0.84[EUR][1000 genomes]
rs13184076	0.87[EUR][1000 genomes]
rs13186044	1.00[EUR][1000 genomes]
rs13186599	1.00[EUR][1000 genomes]
rs13186921	1.00[EUR][1000 genomes]
rs34014539	0.84[EUR][1000 genomes]
rs34045695	1.00[EUR][1000 genomes]
rs34062154	1.00[EUR][1000 genomes]
rs34195715	0.87[EUR][1000 genomes]
rs34328995	1.00[EUR][1000 genomes]
rs34343418	0.87[EUR][1000 genomes]
rs34404840	1.00[EUR][1000 genomes]
rs34502997	0.87[EUR][1000 genomes]
rs34548575	0.87[EUR][1000 genomes]
rs34607368	0.87[EUR][1000 genomes]
rs34891325	1.00[EUR][1000 genomes]
rs34891758	0.87[EUR][1000 genomes]
rs34961050	1.00[EUR][1000 genomes]
rs35153576	1.00[EUR][1000 genomes]
rs35307918	1.00[EUR][1000 genomes]
rs35321631	0.87[EUR][1000 genomes]
rs35372786	1.00[EUR][1000 genomes]
rs35439767	1.00[EUR][1000 genomes]
rs35658331	1.00[EUR][1000 genomes]
rs36017812	1.00[EUR][1000 genomes]
rs62390689	0.96[EUR][1000 genomes]
rs62390721	1.00[EUR][1000 genomes]
rs62392590	1.00[EUR][1000 genomes]
rs62392636	0.84[EUR][1000 genomes]
rs62392639	0.87[EUR][1000 genomes]
rs6860642	1.00[EUR][1000 genomes]
rs6860732	1.00[EUR][1000 genomes]
rs71587984	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127869200-127875000	Active TSS	Fetal Heart	heart
2	chr5:127870800-127875200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:127871200-127873800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:127871600-127873200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:127871600-127875000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr5:127871800-127873200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:127871800-127874400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:127871800-127874800	Bivalent/Poised TSS	NHDF-Ad	bronchial
11	chr5:127871800-127875200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:127871800-127875200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr5:127871800-127875200	Active TSS	Left Ventricle	heart
14	chr5:127871800-127875200	Active TSS	Right Ventricle	heart
15	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:127872000-127873400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr5:127872000-127873400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr5:127872000-127874200	Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr5:127872000-127874400	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr5:127872000-127875200	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:127872200-127874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127872200-127874600	Active TSS	A549	lung
24	chr5:127872200-127875000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127872200-127875200	Active TSS	Right Atrium	heart
26	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:127872400-127874400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr5:127872400-127874400	Active TSS	Osteobl	bone
30	chr5:127872400-127874600	Active TSS	NHEK	skin
31	chr5:127872400-127875000	Active TSS	Ovary	ovary
32	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:127872600-127873200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:127872600-127873200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr5:127872600-127873200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr5:127872600-127873200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr5:127872600-127873400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:127872600-127873400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr5:127872600-127873400	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr5:127872600-127873400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr5:127872600-127873600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:127872600-127873800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:127872600-127873800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:127872600-127874000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:127872600-127874600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:127872600-127874600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:127872600-127874600	Active TSS	Fetal Lung	lung
49	chr5:127872600-127874600	Active TSS	Hela-S3	cervix
50	chr5:127872600-127874600	Active TSS	NH-A	brain

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