Variant report

Variant	rs62346341
Chromosome Location	chr4:151694045-151694046
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	chr4:151692544..151694147-chr4:151694424..151696071,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10003857	0.95[AFR][1000 genomes]
rs10008077	1.00[ASN][1000 genomes]
rs10012460	0.98[AFR][1000 genomes]
rs1148642	1.00[ASN][1000 genomes]
rs1148655	0.83[AFR][1000 genomes]
rs11737590	0.82[AFR][1000 genomes]
rs1201202	1.00[ASN][1000 genomes]
rs12499833	0.92[AFR][1000 genomes]
rs12648430	0.93[AFR][1000 genomes]
rs1451634	0.95[AFR][1000 genomes]
rs17027030	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027158	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440394	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782360	0.83[AFR][1000 genomes]
rs184150	0.81[AFR][1000 genomes]
rs2122920	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218899	0.98[AFR][1000 genomes]
rs35879351	1.00[ASN][1000 genomes]
rs4696220	0.94[AFR][1000 genomes]
rs4696632	0.81[AFR][1000 genomes]
rs57218449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57518605	1.00[ASN][1000 genomes]
rs58328072	1.00[ASN][1000 genomes]
rs59572961	1.00[ASN][1000 genomes]
rs60102523	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60391819	1.00[ASN][1000 genomes]
rs61258128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	1.00[ASN][1000 genomes]
rs62344564	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344565	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344568	0.93[EUR][1000 genomes]
rs62344569	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344571	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344572	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344573	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344578	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344582	1.00[ASN][1000 genomes]
rs62344596	1.00[ASN][1000 genomes]
rs62344597	1.00[ASN][1000 genomes]
rs62344598	1.00[ASN][1000 genomes]
rs62344605	1.00[ASN][1000 genomes]
rs62346260	1.00[ASN][1000 genomes]
rs62346265	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346305	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346306	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346337	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62346346	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346348	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346349	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6535749	0.98[AFR][1000 genomes]
rs6817726	0.93[AFR][1000 genomes]
rs6819868	1.00[ASN][1000 genomes]
rs6820819	0.95[AFR][1000 genomes]
rs6831200	0.94[AFR][1000 genomes]
rs6836017	0.92[AFR][1000 genomes]
rs6838286	0.93[AFR][1000 genomes]
rs6852035	0.89[AFR][1000 genomes]
rs716474	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859291	1.00[ASN][1000 genomes]
rs73859295	1.00[ASN][1000 genomes]
rs7656796	0.93[AFR][1000 genomes]
rs7663641	0.95[AFR][1000 genomes]
rs7665652	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971640	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
2	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:151653000-151694400	Weak transcription	Thymus	Thymus
5	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:151657000-151700600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:151668800-151720000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
10	chr4:151675200-151695400	Weak transcription	Aorta	Aorta
11	chr4:151677200-151746000	Weak transcription	Ovary	ovary
12	chr4:151679000-151696200	Weak transcription	Gastric	stomach
13	chr4:151680400-151704400	Weak transcription	Brain Substantia Nigra	brain
14	chr4:151682000-151717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:151682200-151694200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:151683600-151704000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:151686600-151737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:151690400-151698800	Weak transcription	Pancreas	Pancrea
19	chr4:151690600-151694400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:151690600-151696400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:151690600-151704200	Weak transcription	Right Ventricle	heart
22	chr4:151690600-151725600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:151690800-151695000	Strong transcription	Primary T cells from cord blood	blood
24	chr4:151691000-151694600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:151691000-151699000	Weak transcription	NHEK	skin
26	chr4:151691000-151745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:151691200-151695600	Weak transcription	HepG2	liver
28	chr4:151691200-151702400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:151691200-151703200	Weak transcription	HSMM	muscle
30	chr4:151691200-151704000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:151691200-151704200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:151691200-151749200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:151691200-151749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:151691400-151695000	Weak transcription	K562	blood
35	chr4:151691400-151695800	Weak transcription	Osteobl	bone
36	chr4:151691400-151697800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:151691400-151702400	Weak transcription	Left Ventricle	heart
38	chr4:151691400-151704000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:151691400-151731800	Weak transcription	Fetal Stomach	stomach
40	chr4:151691800-151694800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:151691800-151696200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:151692200-151694200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr4:151692200-151704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:151692400-151694200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:151692800-151694600	Strong transcription	Fetal Intestine Large	intestine
46	chr4:151692800-151748600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:151693000-151694200	Weak transcription	GM12878-XiMat	blood
48	chr4:151693000-151703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:151693200-151694400	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:151693200-151696200	Enhancers	Fetal Heart	heart

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