Variant report

Variant	rs833935
Chromosome Location	chr19:38510256-38510257
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	chr19:38508262..38510811-chr19:38514830..38516559,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16978759	1.00[JPT][hapmap]
rs1725502	0.94[EUR][1000 genomes]
rs7258557	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs833909	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs833910	0.85[JPT][hapmap]
rs833918	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs833934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs833935	ZNF404	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
3	chr19:38495400-38526400	Weak transcription	Ovary	ovary
4	chr19:38495600-38512800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:38495600-38513400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:38495600-38514200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:38495800-38513400	Weak transcription	Stomach Mucosa	stomach
8	chr19:38496200-38512600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:38496200-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:38496200-38513600	Weak transcription	Left Ventricle	heart
11	chr19:38496200-38513600	Weak transcription	Right Ventricle	heart
12	chr19:38496200-38513600	Weak transcription	NHEK	skin
13	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:38496400-38510800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:38496400-38511000	Weak transcription	Brain Germinal Matrix	brain
16	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:38496600-38513600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:38496600-38515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:38496800-38520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38497000-38513400	Weak transcription	NHLF	lung
21	chr19:38497400-38511800	Weak transcription	NH-A	brain
22	chr19:38497400-38515800	Weak transcription	Fetal Brain Male	brain
23	chr19:38497400-38520600	Weak transcription	Primary T cells from cord blood	blood
24	chr19:38497600-38513600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:38498200-38514800	Weak transcription	HepG2	liver
26	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:38501000-38521400	Weak transcription	Thymus	Thymus
28	chr19:38501800-38511000	Weak transcription	HSMM	muscle
29	chr19:38502400-38523000	Weak transcription	Liver	Liver
30	chr19:38502600-38512600	Weak transcription	Pancreas	Pancrea
31	chr19:38503000-38511000	Weak transcription	Spleen	Spleen
32	chr19:38503600-38513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:38503800-38511000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:38503800-38511600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:38503800-38513400	Weak transcription	Esophagus	oesophagus
36	chr19:38503800-38513400	Weak transcription	Fetal Intestine Large	intestine
37	chr19:38503800-38523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:38504000-38513200	Strong transcription	Fetal Intestine Small	intestine
39	chr19:38504000-38515200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:38504000-38515200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:38504400-38512600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:38504600-38511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:38504800-38513600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:38504800-38513600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:38505000-38513600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:38505200-38513600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:38505200-38513600	Weak transcription	Brain Substantia Nigra	brain
48	chr19:38505200-38518600	Weak transcription	Fetal Stomach	stomach
49	chr19:38505800-38511800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:38506200-38511200	Weak transcription	Psoas Muscle	Psoas

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