Variant report

Variant	rs62346304
Chromosome Location	chr4:151651991-151651992
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	chr4:151645255..151647741-chr4:151651102..151652616,2	K562	blood:
2	chr4:151651375..151653536-chr4:151655987..151658695,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10003857	0.88[AFR][1000 genomes]
rs10008077	1.00[ASN][1000 genomes]
rs10012460	0.94[AFR][1000 genomes]
rs1148642	1.00[ASN][1000 genomes]
rs11737590	0.82[AFR][1000 genomes]
rs1201202	1.00[ASN][1000 genomes]
rs12499833	0.95[AFR][1000 genomes]
rs12648430	0.94[AFR][1000 genomes]
rs1451634	0.92[AFR][1000 genomes]
rs17027030	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027158	1.00[ASN][1000 genomes]
rs17440394	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122920	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218899	0.91[AFR][1000 genomes]
rs35879351	1.00[ASN][1000 genomes]
rs4696220	0.94[AFR][1000 genomes]
rs57218449	0.81[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	0.81[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	1.00[ASN][1000 genomes]
rs62344564	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344565	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344568	0.87[EUR][1000 genomes]
rs62344569	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344571	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344573	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344578	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344579	0.81[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	0.94[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346306	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346337	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346346	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346348	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346349	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6535749	0.94[AFR][1000 genomes]
rs6817726	0.93[AFR][1000 genomes]
rs6819868	1.00[ASN][1000 genomes]
rs6820819	0.88[AFR][1000 genomes]
rs6831200	0.98[AFR][1000 genomes]
rs6836017	0.92[AFR][1000 genomes]
rs6838286	0.86[AFR][1000 genomes]
rs6852035	0.85[AFR][1000 genomes]
rs716474	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859291	1.00[ASN][1000 genomes]
rs73859295	1.00[ASN][1000 genomes]
rs7656796	0.86[AFR][1000 genomes]
rs7663641	0.92[AFR][1000 genomes]
rs7665652	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971640	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151639600-151671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:151640600-151652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:151643600-151654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:151644200-151657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:151644400-151654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:151644400-151660800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:151644400-151660800	Weak transcription	Aorta	Aorta
9	chr4:151644400-151663800	Weak transcription	HMEC	breast
10	chr4:151644600-151664200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:151645000-151653600	Weak transcription	HepG2	liver
12	chr4:151645200-151652000	Weak transcription	Lung	lung
13	chr4:151645200-151658200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:151645200-151665800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:151645200-151671000	Weak transcription	Left Ventricle	heart
16	chr4:151645400-151654200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
18	chr4:151645600-151662600	Weak transcription	Pancreas	Pancrea
19	chr4:151645600-151669600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:151645600-151690400	Weak transcription	K562	blood
21	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:151645800-151655800	Weak transcription	Fetal Thymus	thymus
23	chr4:151646000-151652200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:151646000-151658400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:151647200-151657800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:151647600-151652000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:151647600-151657000	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:151647800-151654400	Weak transcription	Fetal Brain Male	brain
29	chr4:151647800-151677600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:151648000-151652000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:151648000-151652200	Weak transcription	Liver	Liver
32	chr4:151648000-151652200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:151648000-151652400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:151648000-151654000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:151648000-151655800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:151648000-151660800	Weak transcription	GM12878-XiMat	blood
37	chr4:151648000-151664000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:151648000-151676400	Weak transcription	Ovary	ovary
39	chr4:151648200-151652000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:151648200-151652200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:151648200-151652200	Weak transcription	Fetal Kidney	kidney
42	chr4:151648200-151658200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:151648600-151652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:151648600-151664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:151649000-151653200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr4:151649400-151657200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:151649600-151652400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:151650000-151652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:151650200-151653000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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