Variant report

Variant	rs11990495
Chromosome Location	chr8:61637752-61637753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61625213..61627892-chr8:61636447..61639072,2	K562	blood:
2	chr8:61637532..61640653-chr8:61641197..61643010,3	MCF-7	breast:
3	chr8:61634749..61636426-chr8:61636462..61638471,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10093135	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103011	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109193	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038351	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1038352	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10448027	0.90[EUR][1000 genomes]
rs10808711	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808712	0.88[ASN][1000 genomes]
rs10808713	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957154	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10957156	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957158	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957161	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985638	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986742	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988338	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991467	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11992809	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11993480	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993490	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993896	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995234	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544305	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681737	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13255519	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264014	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269752	0.86[EUR][1000 genomes]
rs13277976	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384688	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483206	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926407	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1905305	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964573	0.86[EUR][1000 genomes]
rs2035456	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2035457	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054666	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054667	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2128713	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2326598	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28653462	0.93[ASN][1000 genomes]
rs2875984	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237037	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4237038	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4289855	0.90[EUR][1000 genomes]
rs4301480	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4391471	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4392940	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500113	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540437	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4562360	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4581092	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737563	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737565	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4738815	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4738818	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4738820	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4738821	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738822	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738824	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738827	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471894	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471896	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471897	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471898	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471901	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471902	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471903	0.83[EUR][1000 genomes]
rs6982898	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988582	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994180	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995557	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996597	0.86[EUR][1000 genomes]
rs6996775	0.82[EUR][1000 genomes]
rs6997208	0.86[EUR][1000 genomes]
rs6997222	0.82[EUR][1000 genomes]
rs7000766	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000957	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002806	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009754	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011972	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012450	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016832	0.81[EUR][1000 genomes]
rs7017676	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs730085	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814114	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816126	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816621	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7823484	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826035	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834076	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7834977	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7836586	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838426	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840098	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842389	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842498	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843033	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845701	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846065	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900502	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298040	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298042	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643371	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9650201	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61621800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:61627800-61638200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
6	chr8:61631400-61637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:61631400-61638200	Weak transcription	A549	lung
8	chr8:61633800-61638000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:61634400-61638200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:61634400-61643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:61634400-61643400	Weak transcription	HepG2	liver
12	chr8:61634600-61638000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:61634600-61638600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:61634800-61638200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:61634800-61638200	Weak transcription	Right Atrium	heart
16	chr8:61634800-61640400	Weak transcription	Left Ventricle	heart
17	chr8:61634800-61647000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:61635600-61639000	Enhancers	Brain Substantia Nigra	brain
20	chr8:61635600-61641200	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:61635800-61637800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:61635800-61637800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:61635800-61638000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:61635800-61638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:61635800-61638400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:61636000-61637800	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:61636000-61637800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:61636000-61638600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr8:61636000-61638600	Enhancers	Right Ventricle	heart
30	chr8:61636000-61638800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:61636000-61638800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:61636000-61638800	Enhancers	Psoas Muscle	Psoas
33	chr8:61636200-61637800	Enhancers	K562	blood
34	chr8:61636200-61638400	Enhancers	Brain Angular Gyrus	brain
35	chr8:61636200-61640000	Enhancers	Primary B cells from cord blood	blood
36	chr8:61636400-61637800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61636400-61638000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:61636400-61638600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:61636400-61638600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:61636400-61638600	Enhancers	Pancreas	Pancrea
41	chr8:61636400-61638800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:61636400-61639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:61636400-61639800	Enhancers	Fetal Heart	heart
44	chr8:61636600-61638600	Enhancers	NHEK	skin
45	chr8:61636600-61638800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:61636600-61641000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:61636800-61637800	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:61636800-61637800	Weak transcription	Small Intestine	intestine
49	chr8:61636800-61638200	Weak transcription	Spleen	Spleen
50	chr8:61636800-61640800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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