Variant report

Variant	rs62346345
Chromosome Location	chr4:151716323-151716324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10003857	0.97[AFR][1000 genomes]
rs10012460	0.96[AFR][1000 genomes]
rs1148655	0.81[AFR][1000 genomes]
rs11737590	0.80[AFR][1000 genomes]
rs12499833	0.90[AFR][1000 genomes]
rs12648430	0.92[AFR][1000 genomes]
rs1451634	0.93[AFR][1000 genomes]
rs17027030	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17027034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17027100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027158	0.85[EUR][1000 genomes]
rs17440394	0.91[EUR][1000 genomes]
rs1782360	0.81[AFR][1000 genomes]
rs2122920	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2218899	1.00[AFR][1000 genomes]
rs4696220	0.93[AFR][1000 genomes]
rs4696632	0.83[AFR][1000 genomes]
rs57218449	0.87[EUR][1000 genomes]
rs60102523	0.87[EUR][1000 genomes]
rs61258128	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62344564	0.87[EUR][1000 genomes]
rs62344565	0.94[EUR][1000 genomes]
rs62344567	0.94[EUR][1000 genomes]
rs62344568	0.93[EUR][1000 genomes]
rs62344569	0.94[EUR][1000 genomes]
rs62344571	0.87[EUR][1000 genomes]
rs62344572	0.87[EUR][1000 genomes]
rs62344573	0.87[EUR][1000 genomes]
rs62344578	0.87[EUR][1000 genomes]
rs62344579	0.87[EUR][1000 genomes]
rs62346265	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346268	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346294	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346295	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346297	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346301	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62346304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346305	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346306	0.94[EUR][1000 genomes]
rs62346307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346311	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346337	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346346	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346348	0.97[EUR][1000 genomes]
rs62346349	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346350	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346351	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6535749	0.96[AFR][1000 genomes]
rs6817726	0.95[AFR][1000 genomes]
rs6820819	0.97[AFR][1000 genomes]
rs6831200	0.92[AFR][1000 genomes]
rs6836017	0.90[AFR][1000 genomes]
rs6838286	0.95[AFR][1000 genomes]
rs6852035	0.87[AFR][1000 genomes]
rs716474	0.91[EUR][1000 genomes]
rs73859222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7656796	0.95[AFR][1000 genomes]
rs7663641	0.93[AFR][1000 genomes]
rs7665652	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7677186	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs971640	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:151668800-151720000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
6	chr4:151677200-151746000	Weak transcription	Ovary	ovary
7	chr4:151682000-151717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:151686600-151737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:151690600-151725600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:151691400-151731800	Weak transcription	Fetal Stomach	stomach
14	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:151694200-151721400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:151694200-151725800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:151694600-151721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:151694600-151726200	Weak transcription	Fetal Intestine Large	intestine
19	chr4:151694600-151729800	Weak transcription	GM12878-XiMat	blood
20	chr4:151694600-151732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:151694600-151737200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:151694800-151720400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:151695000-151721000	Weak transcription	Primary T cells from cord blood	blood
24	chr4:151704000-151747400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:151704600-151737600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:151706400-151745800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:151711400-151719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:151711600-151718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:151711600-151747400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:151711600-151749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:151711800-151722800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:151712200-151721400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:151712200-151742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:151712400-151732200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:151712600-151718200	Weak transcription	Primary B cells from cord blood	blood
36	chr4:151712800-151737200	Weak transcription	Liver	Liver
37	chr4:151712800-151742800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:151714400-151747200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:151714600-151723000	Weak transcription	Fetal Intestine Small	intestine
41	chr4:151714800-151735600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:151715800-151737200	Weak transcription	K562	blood
43	chr4:151716000-151716400	Enhancers	NH-A	brain

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