Variant report

Variant	rs833921
Chromosome Location	chr19:38501417-38501418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38494718..38497085-chr19:38500858..38502936,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10853715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1622543	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643457	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1643459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17248670	1.00[CHB][hapmap]
rs17249336	1.00[CHB][hapmap]
rs1725501	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1725503	0.95[EUR][1000 genomes]
rs2694065	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3859549	1.00[CHB][hapmap]
rs4536583	1.00[CHB][hapmap]
rs57733318	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6508755	1.00[CHB][hapmap]
rs705501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs705502	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7343065	1.00[CHB][hapmap]
rs8100199	1.00[CHB][hapmap]
rs833893	0.95[EUR][1000 genomes]
rs833894	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833901	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs833902	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs833903	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833904	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833905	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs833906	0.81[EUR][1000 genomes]
rs833907	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs833908	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs833919	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833920	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38495200-38502400	Weak transcription	Pancreas	Pancrea
3	chr19:38495200-38503200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:38495400-38503800	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
6	chr19:38495400-38526400	Weak transcription	Ovary	ovary
7	chr19:38495600-38503000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:38495600-38509200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:38495600-38512800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr19:38495600-38513400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:38495600-38514200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:38495800-38510000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr19:38495800-38513400	Weak transcription	Stomach Mucosa	stomach
14	chr19:38496000-38505600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:38496200-38502400	Weak transcription	Lung	lung
16	chr19:38496200-38502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:38496200-38503600	Weak transcription	Esophagus	oesophagus
18	chr19:38496200-38508000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:38496200-38508200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:38496200-38509400	Weak transcription	HSMMtube	muscle
21	chr19:38496200-38512600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38496200-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:38496200-38513600	Weak transcription	Left Ventricle	heart
24	chr19:38496200-38513600	Weak transcription	Right Ventricle	heart
25	chr19:38496200-38513600	Weak transcription	NHEK	skin
26	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:38496400-38502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:38496400-38503000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:38496400-38503000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:38496400-38503000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:38496400-38503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:38496400-38510800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:38496400-38511000	Weak transcription	Brain Germinal Matrix	brain
34	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:38496600-38513600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:38496600-38515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:38496800-38506600	Weak transcription	Osteobl	bone
38	chr19:38496800-38509400	Weak transcription	HUVEC	blood vessel
39	chr19:38496800-38520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:38497000-38513400	Weak transcription	NHLF	lung
41	chr19:38497200-38502400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:38497200-38502800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:38497200-38503000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr19:38497200-38503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:38497400-38502000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:38497400-38502200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:38497400-38502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:38497400-38503400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:38497400-38504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:38497400-38511800	Weak transcription	NH-A	brain

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