Variant report

Variant	rs8102871
Chromosome Location	chr19:38406469-38406470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38399136..38401318-chr19:38404847..38407238,2	MCF-7	breast:
2	chr19:38403265..38407111-chr19:38419790..38421668,3	MCF-7	breast:
3	chr19:38405526..38407086-chr19:38423053..38425586,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10422056	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11083438	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11083439	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11665877	0.84[AMR][1000 genomes]
rs11668384	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11668434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11668558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12462485	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12610891	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12972712	0.84[AMR][1000 genomes]
rs12981237	0.84[AMR][1000 genomes]
rs1632177	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1643464	0.81[EUR][1000 genomes]
rs1643465	0.80[EUR][1000 genomes]
rs1643470	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1643472	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1725468	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1725490	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17306508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs17306795	0.91[CHB][hapmap]
rs241937	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241940	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241941	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241942	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241943	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241944	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241946	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs241947	0.85[ASN][1000 genomes]
rs241948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs241951	0.90[CHB][hapmap]
rs241957	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs241959	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs241960	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34607899	0.84[AMR][1000 genomes]
rs35015599	0.84[AMR][1000 genomes]
rs35214625	0.84[AMR][1000 genomes]
rs353405	0.93[EUR][1000 genomes]
rs353406	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353409	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353412	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353413	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36020184	0.84[AMR][1000 genomes]
rs36092052	0.84[AMR][1000 genomes]
rs3752365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs3894129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4482404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs4802134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803536	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508748	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6508752	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs697433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7250668	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7254828	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7255551	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103882	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8105694	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8110417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833915	0.82[EUR][1000 genomes]
rs833916	0.90[CHB][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs856302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs856309	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs861308	0.90[CHB][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:38399200-38409400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:38399200-38411000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:38399200-38411000	Weak transcription	Stomach Mucosa	stomach
8	chr19:38399200-38411400	Weak transcription	NHEK	skin
9	chr19:38399200-38411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:38399200-38411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:38399200-38415600	Weak transcription	Hela-S3	cervix
12	chr19:38399200-38416000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
15	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:38399600-38409600	Weak transcription	NHLF	lung
17	chr19:38399600-38411400	Weak transcription	Esophagus	oesophagus
18	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
21	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:38399800-38409600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:38399800-38409600	Weak transcription	Brain Anterior Caudate	brain
24	chr19:38399800-38410800	Weak transcription	Brain Angular Gyrus	brain
25	chr19:38399800-38411000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:38399800-38411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38399800-38411600	Weak transcription	Lung	lung
28	chr19:38399800-38413800	Weak transcription	Liver	Liver
29	chr19:38399800-38417200	Weak transcription	Ovary	ovary
30	chr19:38399800-38421200	Weak transcription	Gastric	stomach
31	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart
32	chr19:38399800-38422400	Weak transcription	Fetal Brain Female	brain
33	chr19:38399800-38422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:38400000-38411200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:38400000-38411400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:38400000-38422000	Weak transcription	HSMM	muscle
37	chr19:38400400-38407800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:38400400-38409600	Weak transcription	Dnd41	blood
39	chr19:38400400-38409600	Weak transcription	NHDF-Ad	bronchial
40	chr19:38400400-38411000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:38400400-38411200	Weak transcription	Brain Germinal Matrix	brain
42	chr19:38400400-38416800	Weak transcription	Pancreas	Pancrea
43	chr19:38400400-38419400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr19:38400400-38421800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:38400600-38409800	Weak transcription	Fetal Intestine Large	intestine
46	chr19:38400600-38410000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:38400600-38411400	Weak transcription	Osteobl	bone
48	chr19:38400600-38422000	Weak transcription	HSMMtube	muscle
49	chr19:38400600-38422400	Weak transcription	HUVEC	blood vessel
50	chr19:38400800-38409600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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