Variant report

Variant	rs671790
Chromosome Location	chr4:1076885-1076886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr4:1076009-1076898	MCF-7	breast:	n/a	n/a
2	TCF12	chr4:1075739-1076917	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1076013..1078004-chr4:1078598..1081280,2	K562	blood:
2	chr4:1002810..1005297-chr4:1075374..1076893,2	K562	blood:
3	chr4:1076538..1078176-chr4:1278229..1280499,2	MCF-7	breast:
4	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
5	chr4:1066782..1068994-chr4:1074953..1077506,2	K562	blood:

No data

Variant related genes	Relation type
RNF212	TF binding region
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000127418	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10002248	0.88[CEU][hapmap]
rs10002437	0.88[CEU][hapmap]
rs10014245	0.88[CEU][hapmap]
rs10032349	0.82[EUR][1000 genomes]
rs10032470	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10033163	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11724989	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11726968	0.83[AMR][1000 genomes]
rs11731238	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11731239	0.84[AMR][1000 genomes]
rs11732259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13119696	1.00[CEU][hapmap]
rs1383660	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1481167	0.88[CEU][hapmap]
rs1680027	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17164384	0.88[CEU][hapmap]
rs28374671	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28510738	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28514301	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28579427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28588234	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2924495	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4246684	1.00[CEU][hapmap]
rs4974561	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4974569	1.00[CEU][hapmap]
rs4974571	1.00[CEU][hapmap]
rs4974573	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs4974628	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4974637	0.82[EUR][1000 genomes]
rs4974639	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4974642	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs4974643	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4974644	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs56308648	0.85[EUR][1000 genomes]
rs583100	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs584472	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs588824	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs589660	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs59057706	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60085185	0.88[EUR][1000 genomes]
rs604526	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs606293	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs606327	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs608066	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs614945	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs615381	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs616196	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs616569	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs617633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs619407	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs620398	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs629638	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs630549	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs632319	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs633087	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs633141	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs633599	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs633954	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs636976	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs643043	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs646117	0.84[EUR][1000 genomes]
rs647828	0.84[EUR][1000 genomes]
rs648640	0.84[EUR][1000 genomes]
rs649243	1.00[CEU][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs649258	0.84[EUR][1000 genomes]
rs649616	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs651135	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs651509	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs658320	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6599282	0.88[CEU][hapmap]
rs6599283	0.85[CEU][hapmap]
rs6599284	0.88[CEU][hapmap]
rs661364	0.84[EUR][1000 genomes]
rs674347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6814094	0.84[EUR][1000 genomes]
rs6814276	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6817989	1.00[CEU][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs681857	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs682243	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs682787	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6836158	0.88[CEU][hapmap]
rs6839768	1.00[CEU][hapmap]
rs6840162	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6852246	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs687939	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs689216	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73072227	0.88[EUR][1000 genomes]
rs73074169	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7676956	0.88[CEU][hapmap]
rs7679718	0.88[CEU][hapmap]
rs7682141	0.88[EUR][1000 genomes]
rs7690832	0.88[CEU][hapmap]
rs9992322	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
4	nsv469998	chr4:809593-1087531	Strong transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878277	chr4:813393-1087531	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv870410	chr4:927839-1090974	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv878292	chr4:939883-1087531	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv1846290	chr4:941518-1081307	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	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
14	esv1842515	chr4:983060-1087531	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv878327	chr4:1024752-1087531	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	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
20	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs671790	AC092574.2	cis	lung	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1075400-1077600	Enhancers	Pancreas	Pancrea
2	chr4:1075600-1077000	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:1075800-1077000	Enhancers	Stomach Mucosa	stomach
4	chr4:1076600-1077000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:1076600-1077000	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:1076600-1077000	Enhancers	HMEC	breast
7	chr4:1076600-1077600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:1076800-1077000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:1076800-1077200	Enhancers	Hela-S3	cervix
10	chr4:1076800-1078600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:1076800-1078800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:1076800-1080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:1076800-1082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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