Variant report

Variant	rs4957176
Chromosome Location	chr5:41904680-41904681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:50180383..50180971-chr5:41903883..41904878,2	Hela-S3	cervix:
2	chr1:28907983..28908522-chr5:41904394..41905164,2	Hela-S3	cervix:
3	chr19:1249612..1250407-chr5:41904224..41904798,2	Hela-S3	cervix:
4	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:
5	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
6	chr1:173836942..173837902-chr5:41904268..41905215,2	Hela-S3	cervix:
7	chr16:8891088..8892043-chr5:41904503..41905484,2	Hela-S3	cervix:
8	chr5:40909913..40911459-chr5:41904598..41906410,2	K562	blood:
9	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
10	chr11:57508825..57509823-chr5:41904248..41904792,2	Hela-S3	cervix:
11	chr11:62622876..62623773-chr5:41904409..41905169,2	Hela-S3	cervix:
12	chr5:41869775..41870984-chr5:41903748..41904904,5	Hela-S3	cervix:
13	chr1:43282562..43283329-chr5:41904355..41905235,2	Hela-S3	cervix:
14	chr11:47788436..47788954-chr5:41904016..41904933,2	Hela-S3	cervix:
15	chr12:53835141..53835684-chr5:41904156..41904757,2	HCT-116	colon:
16	chr17:36981412..36982157-chr5:41904152..41904938,2	Hela-S3	cervix:
17	chr5:41904182..41904989-chr5:41924735..41925458,3	Hela-S3	cervix:
18	chr12:52400633..52401241-chr5:41904000..41904821,2	NB4	blood:
19	chr11:76156036..76156906-chr5:41904032..41904829,2	Hela-S3	cervix:
20	chr22:24666840..24667381-chr5:41904330..41905306,2	Hela-S3	cervix:
21	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:
22	chr19:3984958..3985562-chr5:41904180..41904681,2	Hela-S3	cervix:
23	chr5:10250447..10251237-chr5:41904072..41904809,2	Hela-S3	cervix:
24	chr12:42538313..42538828-chr5:41903843..41904763,2	Hela-S3	cervix:
25	chr16:4816930..4817546-chr5:41904059..41904958,2	Hela-S3	cervix:
26	chr19:49121863..49123013-chr5:41903547..41904710,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000253098	Chromatin interaction
ENSG00000100014	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000184857	Chromatin interaction
ENSG00000263791	Chromatin interaction
ENSG00000103199	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000164010	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000177868	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000258555	Chromatin interaction
ENSG00000197111	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000161835	Chromatin interaction
ENSG00000140650	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000167658	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000205352	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000108296	Chromatin interaction
ENSG00000126457	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10045473	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10051322	1.00[ASN][1000 genomes]
rs10059424	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10060170	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062703	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10064380	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069638	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1006996	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10070201	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10075064	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10077481	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1035486	0.94[AMR][1000 genomes]
rs10472357	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10941557	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1118104	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11739257	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11740524	0.93[ASN][1000 genomes]
rs11744279	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11744516	0.81[ASN][1000 genomes]
rs11744623	0.93[ASN][1000 genomes]
rs11745373	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11747921	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1175227	1.00[ASN][1000 genomes]
rs13357951	1.00[ASN][1000 genomes]
rs13360001	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1355089	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1494392	0.91[AMR][1000 genomes]
rs1508816	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533014	0.93[ASN][1000 genomes]
rs1567323	0.81[ASN][1000 genomes]
rs1582539	0.94[AMR][1000 genomes]
rs16871793	0.94[AMR][1000 genomes]
rs16871799	0.94[AMR][1000 genomes]
rs16871844	0.94[AMR][1000 genomes]
rs16871938	0.94[AMR][1000 genomes]
rs16871940	0.94[AMR][1000 genomes]
rs16871972	0.93[ASN][1000 genomes]
rs17739462	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17847285	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1876654	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2113053	1.00[ASN][1000 genomes]
rs2231910	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2329815	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs277406	1.00[ASN][1000 genomes]
rs277407	1.00[ASN][1000 genomes]
rs277414	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs277416	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34226693	1.00[AFR][1000 genomes]
rs34339137	0.93[ASN][1000 genomes]
rs34663371	0.93[ASN][1000 genomes]
rs35077044	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs35154057	0.93[ASN][1000 genomes]
rs35252930	0.81[ASN][1000 genomes]
rs35613904	0.93[ASN][1000 genomes]
rs3863161	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3863162	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3863163	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3863164	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4050986	0.93[ASN][1000 genomes]
rs4245982	0.86[AMR][1000 genomes]
rs4289604	1.00[ASN][1000 genomes]
rs4324728	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4358568	1.00[AFR][1000 genomes]
rs4957170	0.94[AMR][1000 genomes]
rs4957171	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957172	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4957173	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957174	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957175	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957177	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957178	1.00[ASN][1000 genomes]
rs4957180	1.00[ASN][1000 genomes]
rs4957409	0.94[AMR][1000 genomes]
rs4957418	0.94[AMR][1000 genomes]
rs4957419	0.94[AMR][1000 genomes]
rs4957421	0.91[MEX][hapmap];0.94[AMR][1000 genomes]
rs4957422	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957423	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957424	0.93[ASN][1000 genomes]
rs4957425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4957428	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957429	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4957430	0.93[ASN][1000 genomes]
rs4957431	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957432	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957433	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957434	1.00[JPT][hapmap]
rs4957435	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957436	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957437	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957438	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4957439	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs626907	1.00[JPT][hapmap]
rs6451582	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs66820325	0.93[ASN][1000 genomes]
rs67114999	0.93[ASN][1000 genomes]
rs676067	1.00[ASN][1000 genomes]
rs6869822	0.86[AMR][1000 genomes]
rs6881873	0.93[ASN][1000 genomes]
rs6889217	1.00[JPT][hapmap]
rs72746983	1.00[ASN][1000 genomes]
rs72746996	1.00[ASN][1000 genomes]
rs7712911	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7728482	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7729014	0.93[ASN][1000 genomes]
rs7733096	0.93[ASN][1000 genomes]
rs9292825	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv327668	chr5:41901383-41909830	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 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	chr5:41903000-41905200	Active TSS	Brain Hippocampus Middle	brain
2	chr5:41903200-41905400	Active TSS	GM12878-XiMat	blood
3	chr5:41903400-41904800	Active TSS	Liver	Liver
4	chr5:41903400-41905000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:41903400-41905000	Active TSS	Brain Substantia Nigra	brain
6	chr5:41903400-41905000	Active TSS	Stomach Smooth Muscle	stomach
7	chr5:41903400-41905200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:41903400-41905200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41903400-41905400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:41903400-41905400	Active TSS	A549	lung
11	chr5:41903400-41905600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr5:41903600-41905000	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr5:41903600-41905000	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:41903600-41905000	Active TSS	Brain Germinal Matrix	brain
15	chr5:41903600-41905000	Active TSS	Rectal Smooth Muscle	rectum
16	chr5:41903600-41905000	Active TSS	Right Ventricle	heart
17	chr5:41903600-41905000	Active TSS	Stomach Mucosa	stomach
18	chr5:41903600-41905200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:41903600-41905200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:41903600-41905200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:41903600-41905200	Active TSS	Aorta	Aorta
22	chr5:41903600-41905200	Active TSS	Ovary	ovary
23	chr5:41903600-41905400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:41903600-41905400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:41903600-41905400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:41903600-41905400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:41903600-41905400	Active TSS	Fetal Intestine Large	intestine
28	chr5:41903600-41905400	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:41903600-41905400	Active TSS	Psoas Muscle	Psoas
30	chr5:41903600-41905600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:41903600-41905600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr5:41903600-41905600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr5:41903600-41905600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:41903600-41905600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:41903600-41905600	Active TSS	Right Atrium	heart
36	chr5:41903600-41905800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:41903600-41906000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:41903600-41906000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:41903600-41906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:41903800-41904800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:41903800-41904800	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:41903800-41904800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:41903800-41904800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr5:41903800-41904800	Active TSS	Fetal Lung	lung
45	chr5:41903800-41905000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr5:41903800-41905000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:41903800-41905000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:41903800-41905000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:41903800-41905000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:41903800-41905000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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