Variant report

Variant	rs939476
Chromosome Location	chr3:150451759-150451760
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150450032..150453638-chr3:150459386..150463898,4	K562	blood:
2	chr3:150449820..150452508-chr3:150479862..150482648,4	K562	blood:
3	chr3:150449791..150453661-chr3:150454357..150457851,6	K562	blood:
4	chr3:150451497..150454639-chr3:150460793..150463672,3	MCF-7	breast:
5	chr3:150443385..150447273-chr3:150447378..150454336,8	K562	blood:
6	chr3:150450757..150453638-chr3:150461349..150463898,2	K562	blood:
7	chr12:120638334..120640147-chr3:150451328..150454316,2	MCF-7	breast:
8	chr3:150450337..150459570-chr3:150476282..150483839,23	K562	blood:
9	chr3:150451008..150453913-chr3:150469068..150470821,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255857	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10513377	1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[ASN][1000 genomes]
rs12695960	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1533711	0.82[CHB][hapmap]
rs16862837	0.82[CHB][hapmap]
rs1879420	0.95[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs1879421	0.82[CHB][hapmap]
rs2116684	0.95[CHB][hapmap]
rs481236	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs502941	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs56725170	0.96[ASN][1000 genomes]
rs594926	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs6788895	0.82[CHB][hapmap]
rs6789306	0.86[CHB][hapmap]
rs73006998	0.86[ASN][1000 genomes]
rs7615125	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7615292	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs7636866	0.84[CHB][hapmap]

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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150429200-150457600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:150430000-150455000	Weak transcription	Primary T cells from cord blood	blood
3	chr3:150430800-150454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:150439800-150457600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:150439800-150459000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:150442200-150455200	Weak transcription	Thymus	Thymus
7	chr3:150443200-150457800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:150443800-150454200	Weak transcription	Fetal Intestine Large	intestine
9	chr3:150444000-150457600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:150445000-150455000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:150445200-150453800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:150446000-150454200	Weak transcription	Adipose Nuclei	Adipose
13	chr3:150446000-150455800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:150446000-150458600	Weak transcription	Brain Substantia Nigra	brain
15	chr3:150446200-150455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:150446200-150458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:150446800-150455000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:150448000-150457600	Weak transcription	Aorta	Aorta
19	chr3:150449400-150458400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:150450200-150455200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:150450200-150457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:150451000-150451800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:150451000-150452000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:150451000-150452200	Flanking Active TSS	K562	blood
25	chr3:150451000-150452200	Enhancers	NHEK	skin
26	chr3:150451000-150457000	Enhancers	Fetal Heart	heart
27	chr3:150451000-150457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:150451000-150457600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:150451200-150451800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:150451200-150451800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:150451200-150451800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:150451200-150451800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:150451200-150451800	Enhancers	Fetal Lung	lung
34	chr3:150451200-150451800	Enhancers	Lung	lung
35	chr3:150451200-150451800	Genic enhancers	Right Atrium	heart
36	chr3:150451200-150451800	Enhancers	Dnd41	blood
37	chr3:150451200-150451800	Enhancers	Osteobl	bone
38	chr3:150451200-150452000	Enhancers	Right Ventricle	heart
39	chr3:150451200-150452000	Enhancers	Spleen	Spleen
40	chr3:150451200-150452200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:150451200-150452200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:150451200-150452200	Enhancers	Stomach Mucosa	stomach
43	chr3:150451200-150452400	Flanking Active TSS	HepG2	liver
44	chr3:150451200-150452800	Enhancers	Esophagus	oesophagus
45	chr3:150451200-150453200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:150451200-150454600	Enhancers	Liver	Liver
47	chr3:150451200-150455000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:150451200-150456800	Enhancers	Left Ventricle	heart
49	chr3:150451200-150458400	Enhancers	Placenta	Placenta
50	chr3:150451400-150451800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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