Variant report

Variant	rs62346337
Chromosome Location	chr4:151683340-151683341
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151678208..151679731-chr4:151682464..151684589,2	MCF-7	breast:
2	chr4:151669744..151671472-chr4:151681690..151684297,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10008077	1.00[ASN][1000 genomes]
rs10012460	0.86[AFR][1000 genomes]
rs1148642	1.00[ASN][1000 genomes]
rs1201202	1.00[ASN][1000 genomes]
rs12648430	0.82[AFR][1000 genomes]
rs1451634	0.83[AFR][1000 genomes]
rs17027030	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.82[AFR][1000 genomes];0.96[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	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218899	0.82[AFR][1000 genomes]
rs35879351	1.00[ASN][1000 genomes]
rs4696220	0.82[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	0.86[AFR][1000 genomes];0.96[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	0.81[AMR][1000 genomes];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	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346304	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346305	0.83[AFR][1000 genomes];0.92[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	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346341	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62346346	0.95[AFR][1000 genomes];1.00[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	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.81[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	0.86[AFR][1000 genomes]
rs6819868	1.00[ASN][1000 genomes]
rs6831200	0.83[AFR][1000 genomes]
rs716474	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859222	0.86[AFR][1000 genomes];0.96[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]
rs7663641	0.83[AFR][1000 genomes]
rs7665652	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971640	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
2	chr4:151645600-151690400	Weak transcription	K562	blood
3	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:151648200-151703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:151653000-151683800	Weak transcription	Fetal Kidney	kidney
6	chr4:151653000-151692200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:151653000-151694400	Weak transcription	Thymus	Thymus
8	chr4:151653000-151749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:151653200-151686000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:151653200-151690600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:151655200-151685400	Weak transcription	HSMMtube	muscle
12	chr4:151656600-151693400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:151657000-151700600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:151661000-151686000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:151661000-151691200	Weak transcription	GM12878-XiMat	blood
16	chr4:151665000-151690400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:151665000-151690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:151668400-151725600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:151668800-151720000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:151669000-151693400	Weak transcription	Primary B cells from cord blood	blood
21	chr4:151670000-151692400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:151670600-151685400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:151670800-151690800	Weak transcription	Primary T cells from cord blood	blood
24	chr4:151674200-151722600	Weak transcription	Fetal Thymus	thymus
25	chr4:151675200-151695400	Weak transcription	Aorta	Aorta
26	chr4:151676600-151692400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:151677200-151746000	Weak transcription	Ovary	ovary
28	chr4:151679000-151696200	Weak transcription	Gastric	stomach
29	chr4:151680000-151690600	Weak transcription	HSMM	muscle
30	chr4:151680400-151704400	Weak transcription	Brain Substantia Nigra	brain
31	chr4:151682000-151690400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151682000-151717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:151682200-151694200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:151682600-151684800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:151682600-151685600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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