Variant report

Variant	rs6831018
Chromosome Location	chr4:1107960-1107961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
2	chr4:1106466..1109450-chr4:1112409..1114063,2	K562	blood:

Variant related genes	Relation type
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000212458	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10003030	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10014245	0.85[AFR][1000 genomes]
rs10015944	0.87[AFR][1000 genomes]
rs10016588	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723211	0.98[ASN][1000 genomes]
rs11726554	0.84[AFR][1000 genomes]
rs11726675	0.98[ASN][1000 genomes]
rs11726836	0.98[ASN][1000 genomes]
rs11731643	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11731685	0.85[AFR][1000 genomes]
rs11735226	1.00[ASN][1000 genomes]
rs1481167	0.90[AFR][1000 genomes]
rs17164362	0.95[ASN][1000 genomes]
rs17164373	0.92[ASN][1000 genomes]
rs17164382	0.88[ASN][1000 genomes]
rs17164384	0.84[AFR][1000 genomes]
rs2001862	0.95[ASN][1000 genomes]
rs28540372	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28621675	0.88[AFR][1000 genomes]
rs28785628	0.88[AFR][1000 genomes]
rs3775110	0.92[ASN][1000 genomes]
rs3775111	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59465697	0.85[AFR][1000 genomes]
rs6599282	0.90[AFR][1000 genomes]
rs6599283	0.90[AFR][1000 genomes]
rs6836158	0.90[AFR][1000 genomes]
rs6853712	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73067775	0.84[AFR][1000 genomes]
rs73067776	0.84[AFR][1000 genomes]
rs7659054	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661069	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7669287	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7676956	0.90[AFR][1000 genomes]
rs7684536	0.90[AFR][1000 genomes]
rs7685051	0.88[AFR][1000 genomes]
rs7690300	0.90[AFR][1000 genomes]
rs7690832	0.85[AFR][1000 genomes]
rs878324	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1000594	chr4:1045099-1129975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1001165	chr4:1051512-1129975	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription 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	59 gene(s)	inside rSNPs	diseases
15	esv3440980	chr4:1105477-1108525	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3374334	chr4:1105777-1108900	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3375020	chr4:1106377-1109125	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1104600-1109600	Weak transcription	Fetal Kidney	kidney
2	chr4:1106000-1108400	Active TSS	Hela-S3	cervix
3	chr4:1106200-1108200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:1106400-1108000	Active TSS	Ovary	ovary
5	chr4:1107000-1108000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:1107000-1108200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:1107000-1108200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:1107000-1108200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:1107000-1108200	Active TSS	Fetal Brain Female	brain
10	chr4:1107000-1108200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
11	chr4:1107000-1108400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:1107000-1108400	Active TSS	Osteobl	bone
13	chr4:1107000-1108600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:1107200-1108200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:1107200-1108200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:1107200-1108200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:1107200-1108200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:1107200-1108200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
19	chr4:1107200-1108400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:1107200-1108400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:1107200-1108400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:1107400-1108000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:1107400-1108200	Active TSS	Duodenum Mucosa	Duodenum
24	chr4:1107400-1108200	Enhancers	Spleen	Spleen
25	chr4:1107400-1108400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr4:1107400-1108600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:1107600-1108000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:1107600-1108000	Active TSS	Adipose Nuclei	Adipose
29	chr4:1107600-1108200	Enhancers	Pancreas	Pancrea
30	chr4:1107600-1108600	Weak transcription	Esophagus	oesophagus
31	chr4:1107600-1108800	Enhancers	Colonic Mucosa	Colon
32	chr4:1107800-1108200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:1107800-1108200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:1107800-1108400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:1107800-1109200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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