Variant report

Variant	rs62344597
Chromosome Location	chr4:151831746-151831747
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151825420..151827674-chr4:151830487..151833140,2	K562	blood:
2	chr4:151826174..151828627-chr4:151829804..151831987,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10008077	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148642	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148651	0.94[AFR][1000 genomes]
rs1201200	0.95[AFR][1000 genomes]
rs1201202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201210	0.95[AFR][1000 genomes]
rs1212119	0.97[AFR][1000 genomes]
rs1273331	0.96[AFR][1000 genomes]
rs1615230	0.83[AFR][1000 genomes]
rs17027030	1.00[ASN][1000 genomes]
rs17027034	1.00[ASN][1000 genomes]
rs17027100	1.00[ASN][1000 genomes]
rs17027155	0.85[AFR][1000 genomes]
rs17027158	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1782365	0.96[AFR][1000 genomes]
rs2122920	1.00[ASN][1000 genomes]
rs2154349	0.93[AFR][1000 genomes]
rs57218449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57518605	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102523	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60391819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258128	1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344564	1.00[ASN][1000 genomes]
rs62344565	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344569	0.81[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	0.88[AFR][1000 genomes];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	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344605	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344646	1.00[ASN][1000 genomes]
rs62346260	1.00[ASN][1000 genomes]
rs62346265	1.00[ASN][1000 genomes]
rs62346268	1.00[ASN][1000 genomes]
rs62346294	1.00[ASN][1000 genomes]
rs62346295	1.00[ASN][1000 genomes]
rs62346297	1.00[ASN][1000 genomes]
rs62346301	1.00[ASN][1000 genomes]
rs62346303	1.00[ASN][1000 genomes]
rs62346304	1.00[ASN][1000 genomes]
rs62346305	1.00[ASN][1000 genomes]
rs62346306	1.00[ASN][1000 genomes]
rs62346307	1.00[ASN][1000 genomes]
rs62346308	1.00[ASN][1000 genomes]
rs62346309	1.00[ASN][1000 genomes]
rs62346311	1.00[ASN][1000 genomes]
rs62346337	1.00[ASN][1000 genomes]
rs62346338	1.00[ASN][1000 genomes]
rs62346341	1.00[ASN][1000 genomes]
rs62346346	1.00[ASN][1000 genomes]
rs62346348	1.00[ASN][1000 genomes]
rs62346349	1.00[ASN][1000 genomes]
rs62346350	1.00[ASN][1000 genomes]
rs62346351	1.00[ASN][1000 genomes]
rs62346567	1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6819868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716474	1.00[ASN][1000 genomes]
rs73859222	1.00[ASN][1000 genomes]
rs73859291	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859295	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665652	1.00[ASN][1000 genomes]
rs7677186	1.00[ASN][1000 genomes]
rs958516	1.00[EUR][1000 genomes]
rs971640	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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
26	nsv1032391	chr4:151804133-151850074	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv1029464	chr4:151817148-151868929	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv881254	chr4:151829824-151936149	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers 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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151774000-151838400	Weak transcription	HepG2	liver
2	chr4:151796000-151845000	Weak transcription	Fetal Heart	heart
3	chr4:151796000-151846000	Weak transcription	Aorta	Aorta
4	chr4:151796000-151847200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:151796200-151849600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
7	chr4:151796400-151834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:151796400-151855000	Weak transcription	Gastric	stomach
9	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
10	chr4:151796600-151833400	Weak transcription	Left Ventricle	heart
11	chr4:151796800-151851000	Weak transcription	Lung	lung
12	chr4:151799600-151839600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:151801600-151832800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:151806600-151839800	Weak transcription	HSMMtube	muscle
15	chr4:151806800-151851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:151806800-151860400	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:151807000-151831800	Weak transcription	Osteobl	bone
18	chr4:151807000-151834600	Weak transcription	NHEK	skin
19	chr4:151808200-151832200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:151808200-151837000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:151809200-151834200	Weak transcription	Small Intestine	intestine
22	chr4:151810200-151843600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:151811800-151852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:151812000-151857800	Weak transcription	NH-A	brain
25	chr4:151812400-151832200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:151813600-151847000	Weak transcription	Brain Angular Gyrus	brain
27	chr4:151813800-151837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:151814000-151832200	Weak transcription	Fetal Kidney	kidney
29	chr4:151814600-151834800	Weak transcription	Placenta	Placenta
30	chr4:151818000-151834600	Weak transcription	HUVEC	blood vessel
31	chr4:151818400-151832400	Weak transcription	Brain Anterior Caudate	brain
32	chr4:151820800-151838600	Weak transcription	NHDF-Ad	bronchial
33	chr4:151821400-151850800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:151821800-151839800	Weak transcription	Hela-S3	cervix
35	chr4:151822600-151831800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:151823000-151833400	Weak transcription	Ovary	ovary
37	chr4:151823000-151834600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:151823000-151841600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:151823800-151832600	Weak transcription	A549	lung
40	chr4:151824200-151836600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:151824800-151832800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:151824800-151833400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:151824800-151833400	Weak transcription	Fetal Intestine Small	intestine
44	chr4:151824800-151833400	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:151824800-151833400	Weak transcription	Fetal Stomach	stomach
46	chr4:151824800-151843800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:151824800-151845400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:151824800-151851200	Weak transcription	Esophagus	oesophagus
49	chr4:151825000-151832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:151825000-151833400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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