Variant report

Variant	rs62344564
Chromosome Location	chr4:151760781-151760782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151752713..151755580-chr4:151759989..151762967,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10008077	1.00[ASN][1000 genomes]
rs1148642	1.00[ASN][1000 genomes]
rs1201202	1.00[ASN][1000 genomes]
rs17027030	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027158	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440394	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186080	0.85[AFR][1000 genomes]
rs2122920	1.00[ASN][1000 genomes]
rs294530	0.85[AFR][1000 genomes]
rs294531	0.92[AFR][1000 genomes]
rs294532	0.95[AFR][1000 genomes]
rs294533	0.86[AFR][1000 genomes]
rs294535	0.93[AFR][1000 genomes]
rs35879351	1.00[ASN][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	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	1.00[ASN][1000 genomes]
rs62344565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62344569	0.82[AMR][1000 genomes];0.93[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]
rs62344646	1.00[ASN][1000 genomes]
rs62346260	1.00[ASN][1000 genomes]
rs62346265	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	1.00[ASN][1000 genomes]
rs62346304	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346305	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346306	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346337	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346341	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.87[EUR][1000 genomes]
rs62346346	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346348	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346349	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6819868	1.00[ASN][1000 genomes]
rs716474	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73859222	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859291	1.00[ASN][1000 genomes]
rs73859295	1.00[ASN][1000 genomes]
rs7665652	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971640	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking 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	35 gene(s)	inside rSNPs	diseases
21	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
23	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking 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
24	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151713000-151761200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:151724400-151770600	Weak transcription	A549	lung
3	chr4:151724800-151763400	Weak transcription	Esophagus	oesophagus
4	chr4:151726600-151780400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:151735000-151773000	Weak transcription	Hela-S3	cervix
6	chr4:151737200-151775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:151737400-151772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:151738400-151770400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:151738400-151775200	Weak transcription	Osteobl	bone
10	chr4:151740000-151773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:151743000-151761200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:151743800-151772800	Weak transcription	Placenta	Placenta
13	chr4:151743800-151795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:151744000-151761200	Weak transcription	Psoas Muscle	Psoas
15	chr4:151745000-151780600	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:151746200-151764200	Weak transcription	Lung	lung
17	chr4:151746400-151775000	Weak transcription	HSMM	muscle
18	chr4:151746800-151770000	Weak transcription	NHEK	skin
19	chr4:151748400-151774600	Weak transcription	Small Intestine	intestine
20	chr4:151748400-151795600	Weak transcription	Brain Angular Gyrus	brain
21	chr4:151749400-151775200	Weak transcription	NH-A	brain
22	chr4:151749600-151761200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:151749600-151770400	Weak transcription	HUVEC	blood vessel
24	chr4:151749600-151770600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:151749600-151772400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:151749800-151761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:151749800-151761000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:151749800-151761000	Weak transcription	Ovary	ovary
29	chr4:151749800-151761000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:151749800-151761000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:151749800-151761000	Weak transcription	HSMMtube	muscle
32	chr4:151749800-151761000	Weak transcription	K562	blood
33	chr4:151749800-151761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:151749800-151761200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:151749800-151761200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:151749800-151761200	Weak transcription	Liver	Liver
37	chr4:151749800-151761200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:151749800-151761200	Weak transcription	Fetal Thymus	thymus
39	chr4:151749800-151761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:151749800-151761400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:151749800-151761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:151749800-151762800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:151749800-151763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:151749800-151763400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:151749800-151763800	Weak transcription	Left Ventricle	heart
46	chr4:151749800-151765000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:151749800-151765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:151749800-151768800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:151749800-151769400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:151749800-151769800	Weak transcription	HMEC	breast

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