Variant report

Variant	rs2050161
Chromosome Location	chr6:38187014-38187015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38185221..38187351-chr6:38192774..38196279,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1931765	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931766	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395695	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395696	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4299828	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4711527	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4714128	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4714129	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4714131	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4714132	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4714133	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6458047	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66634926	0.86[AMR][1000 genomes]
rs6904507	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915783	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917654	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6924088	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6930118	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6935617	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7738411	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9380722	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9380724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9470833	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv520053	chr6:38154941-38207636	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr6:38160800-38201400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:38166800-38194800	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38167000-38210400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38177600-38189200	Weak transcription	Gastric	stomach
5	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38178800-38187800	Weak transcription	Pancreas	Pancrea
8	chr6:38179800-38187800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:38180800-38187800	Weak transcription	Esophagus	oesophagus
10	chr6:38181000-38207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:38181400-38189000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:38181400-38191200	Weak transcription	Ovary	ovary
13	chr6:38181400-38195200	Weak transcription	Colonic Mucosa	Colon
14	chr6:38181400-38202600	Weak transcription	Fetal Stomach	stomach
15	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:38181600-38187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:38182200-38194000	Weak transcription	Lung	lung
18	chr6:38182400-38187400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:38182400-38187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:38183200-38195200	Weak transcription	Fetal Brain Male	brain
21	chr6:38183400-38187200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:38183400-38187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:38183400-38187400	Weak transcription	Brain Angular Gyrus	brain
24	chr6:38183400-38187800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:38183400-38188600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:38183600-38187400	Weak transcription	Brain Anterior Caudate	brain
27	chr6:38183600-38194000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:38184000-38187400	Weak transcription	Brain Substantia Nigra	brain
29	chr6:38184200-38197200	Weak transcription	HSMMtube	muscle
30	chr6:38184200-38202800	Weak transcription	Psoas Muscle	Psoas
31	chr6:38184400-38187400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:38184600-38187400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:38186600-38187600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:38186600-38187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:38186600-38215200	Weak transcription	Aorta	Aorta

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