Variant report

Variant	rs481236
Chromosome Location	chr3:150458543-150458544
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150457628..150460204-chr3:150468516..150471242,2	K562	blood:
2	chr3:150456316..150460204-chr3:150468516..150472450,4	K562	blood:
3	chr3:150457697..150460928-chr3:150461063..150463288,3	K562	blood:
4	chr3:150457190..150462784-chr3:150464439..150467778,5	K562	blood:
5	chr3:150442966..150446319-chr3:150451835..150458890,10	K562	blood:
6	chr3:150452566..150460091-chr3:150475752..150483574,15	K562	blood:
7	chr3:150456138..150457755-chr3:150457947..150459556,2	MCF-7	breast:
8	chr3:150450337..150459570-chr3:150476282..150483839,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10513377	0.86[CHB][hapmap]
rs1148368	0.81[ASN][1000 genomes]
rs12695960	0.88[ASN][1000 genomes]
rs1533711	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs16862837	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs1879420	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs1879421	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.87[MKK][hapmap];0.96[ASN][1000 genomes]
rs1879422	0.96[ASN][1000 genomes]
rs1991781	0.96[ASN][1000 genomes]
rs2018246	0.80[ASN][1000 genomes]
rs2116684	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2116685	0.88[ASN][1000 genomes]
rs502941	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55899470	0.96[ASN][1000 genomes]
rs57275328	0.95[ASN][1000 genomes]
rs57824095	0.96[ASN][1000 genomes]
rs594926	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6788895	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs6789306	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs73006998	0.80[ASN][1000 genomes]
rs73006999	0.96[ASN][1000 genomes]
rs73008903	0.96[ASN][1000 genomes]
rs73008905	0.96[ASN][1000 genomes]
rs73008907	0.96[ASN][1000 genomes]
rs73010930	0.96[ASN][1000 genomes]
rs7615125	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7615292	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7636866	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs939476	0.86[CHB][hapmap];0.83[CHD][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150439800-150459000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:150446000-150458600	Weak transcription	Brain Substantia Nigra	brain
3	chr3:150451400-150458800	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:150451400-150459200	Weak transcription	HSMMtube	muscle
5	chr3:150451400-150461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:150451800-150459000	Weak transcription	Dnd41	blood
7	chr3:150451800-150462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:150453400-150458600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:150453400-150458600	Weak transcription	Brain Angular Gyrus	brain
10	chr3:150453400-150458600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:150453600-150460000	Weak transcription	Lung	lung
12	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:150454600-150459000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:150454600-150459000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:150454600-150469800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:150454800-150459600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:150454800-150459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:150454800-150462600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:150454800-150467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:150455400-150458600	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:150455400-150459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:150455400-150459200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:150455600-150458800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:150455800-150460000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:150456200-150459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:150456200-150461200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:150456400-150458600	Weak transcription	Right Ventricle	heart
29	chr3:150456400-150461600	Weak transcription	Psoas Muscle	Psoas
30	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:150456600-150458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:150456600-150458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:150456600-150458800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:150456600-150459000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
36	chr3:150456800-150458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:150456800-150458600	Weak transcription	Gastric	stomach
38	chr3:150456800-150458600	Weak transcription	Ovary	ovary
39	chr3:150456800-150458600	Weak transcription	Pancreas	Pancrea
40	chr3:150456800-150458600	Weak transcription	HSMM	muscle
41	chr3:150456800-150458600	Weak transcription	NHLF	lung
42	chr3:150456800-150458800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:150456800-150459000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:150456800-150459000	Weak transcription	Left Ventricle	heart
45	chr3:150456800-150459800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:150456800-150459800	Enhancers	Liver	Liver
47	chr3:150456800-150461000	Weak transcription	Right Atrium	heart
48	chr3:150456800-150461600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:150456800-150462400	Weak transcription	Small Intestine	intestine
50	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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