Variant report

Variant	rs2035456
Chromosome Location	chr8:61601848-61601849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61595844..61597847-chr8:61600108..61602179,3	MCF-7	breast:
2	chr8:61600702..61602522-chr8:61602539..61605188,2	K562	blood:
3	chr8:61599708..61602124-chr8:61603749..61606422,3	MCF-7	breast:
4	chr8:61599554..61605342-chr8:61607995..61613853,8	K562	blood:
5	chr8:61601737..61603348-chr8:61606675..61608350,2	MCF-7	breast:
6	chr8:61599531..61602030-chr8:61683939..61686653,2	MCF-7	breast:
7	chr8:61564632..61566993-chr8:61599888..61601960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10093135	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10103011	0.90[EUR][1000 genomes]
rs10109193	0.90[EUR][1000 genomes]
rs1038351	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1038352	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10448027	0.90[EUR][1000 genomes]
rs10808711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808712	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808713	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957158	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957161	0.89[EUR][1000 genomes]
rs11985638	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11986742	0.88[EUR][1000 genomes]
rs11988338	0.89[EUR][1000 genomes]
rs11990117	0.95[ASN][1000 genomes]
rs11990495	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991467	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11992809	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993480	0.87[EUR][1000 genomes]
rs11993490	0.91[EUR][1000 genomes]
rs11993896	0.88[EUR][1000 genomes]
rs11995234	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997122	0.95[ASN][1000 genomes]
rs12544305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681737	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13255519	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13264014	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13269752	0.82[EUR][1000 genomes]
rs13277976	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1384688	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483206	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16926407	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1905305	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1964573	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2035457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054666	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054667	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2128713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326598	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2875984	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4237037	0.87[EUR][1000 genomes]
rs4237038	0.82[EUR][1000 genomes]
rs4289855	0.90[EUR][1000 genomes]
rs4301480	0.90[EUR][1000 genomes]
rs4307377	0.86[CHB][hapmap]
rs4391471	0.89[EUR][1000 genomes]
rs4392940	0.91[EUR][1000 genomes]
rs4449834	0.88[CHB][hapmap]
rs4500113	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4526395	1.00[CHB][hapmap]
rs4540437	0.90[EUR][1000 genomes]
rs4562360	0.90[EUR][1000 genomes]
rs4581092	0.90[EUR][1000 genomes]
rs4737563	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4737565	0.85[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs4738815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738820	0.91[EUR][1000 genomes]
rs4738821	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738822	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738824	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738827	0.90[EUR][1000 genomes]
rs4738831	0.88[CHB][hapmap]
rs4738832	0.88[CHB][hapmap]
rs6471894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471897	0.90[EUR][1000 genomes]
rs6471898	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6471901	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471902	0.87[EUR][1000 genomes]
rs6471903	0.94[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs6471905	0.88[CHB][hapmap]
rs6982898	0.90[EUR][1000 genomes]
rs6988582	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6994180	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6995557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996597	0.85[EUR][1000 genomes]
rs6996775	0.82[EUR][1000 genomes]
rs6997208	0.85[EUR][1000 genomes]
rs6997222	0.81[EUR][1000 genomes]
rs7000766	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7000957	0.90[EUR][1000 genomes]
rs7002806	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7005873	0.86[CHB][hapmap]
rs7009754	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012450	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017676	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs730085	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7814114	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7816126	0.89[EUR][1000 genomes]
rs7816621	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823484	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7826035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834076	0.87[EUR][1000 genomes]
rs7834977	0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs7836586	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7838426	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7840098	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7842389	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842498	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843033	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845701	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846065	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs900502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298040	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298042	0.88[EUR][1000 genomes]
rs9643371	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650201	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1019809	chr8:61597918-61624034	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv539631	chr8:61597918-61624034	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61594000-61610400	Weak transcription	A549	lung
3	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
4	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
6	chr8:61597000-61602200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:61597000-61619800	Weak transcription	HMEC	breast
8	chr8:61597200-61602000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:61597200-61602000	Weak transcription	Fetal Lung	lung
10	chr8:61597200-61602200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:61597200-61602400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:61597200-61604200	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:61597200-61605200	Weak transcription	Esophagus	oesophagus
14	chr8:61597200-61605200	Weak transcription	Lung	lung
15	chr8:61597400-61602000	Weak transcription	Fetal Thymus	thymus
16	chr8:61597400-61605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:61597400-61605600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:61597400-61607400	Weak transcription	Small Intestine	intestine
19	chr8:61597600-61602400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:61597600-61605200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:61597800-61602000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:61597800-61605200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:61597800-61605200	Weak transcription	Gastric	stomach
24	chr8:61597800-61606600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:61598000-61602200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:61598000-61602200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:61598000-61602200	Weak transcription	Brain Angular Gyrus	brain
28	chr8:61598000-61602400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:61598000-61603200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:61598000-61605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:61598000-61606000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:61598000-61609000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:61598000-61609600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:61598200-61603200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:61598200-61604000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:61598200-61605600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:61598200-61605600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:61598200-61619800	Weak transcription	HepG2	liver
39	chr8:61598600-61602200	Weak transcription	Brain Anterior Caudate	brain
40	chr8:61598800-61602200	Weak transcription	Brain Substantia Nigra	brain
41	chr8:61598800-61608000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:61599200-61602000	Weak transcription	Brain Germinal Matrix	brain
43	chr8:61599200-61613200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:61599400-61602000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:61599400-61603200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:61599400-61605200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:61599400-61605400	Weak transcription	Spleen	Spleen
48	chr8:61599400-61605800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:61599800-61603000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:61600000-61604000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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