Variant report

Variant	rs771259
Chromosome Location	chr2:7123961-7123962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10495548	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10495549	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10929458	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11898648	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12465410	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13392406	1.00[JPT][hapmap]
rs13393491	1.00[JPT][hapmap]
rs13398488	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13399190	1.00[JPT][hapmap]
rs13408347	0.84[ASN][1000 genomes]
rs13418719	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13422407	0.97[ASN][1000 genomes]
rs1797554	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292931	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28768765	0.95[ASN][1000 genomes]
rs3755509	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4669124	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6741819	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs700943	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72781779	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs771253	1.00[JPT][hapmap]
rs771256	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs771257	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs771263	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771265	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771266	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
6	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
12	chr2:7117600-7126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:7119200-7126800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:7120800-7126200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:7121000-7126400	Enhancers	Brain Anterior Caudate	brain
16	chr2:7121200-7126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:7121200-7126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:7121200-7126200	Weak transcription	Dnd41	blood
19	chr2:7121200-7130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
21	chr2:7121400-7124000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:7121400-7129400	Weak transcription	Fetal Thymus	thymus
23	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:7121800-7125600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:7122000-7126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:7122000-7128000	Enhancers	Pancreas	Pancrea
28	chr2:7122200-7124400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:7122200-7126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:7122200-7126200	Enhancers	Brain Substantia Nigra	brain
31	chr2:7122400-7124600	Enhancers	Adipose Nuclei	Adipose
32	chr2:7122400-7126200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:7122600-7124800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:7122600-7126200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:7122600-7126800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:7122800-7124000	Enhancers	Fetal Brain Female	brain
37	chr2:7122800-7124000	Enhancers	Fetal Heart	heart
38	chr2:7122800-7124200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:7122800-7124200	Enhancers	Lung	lung
40	chr2:7122800-7124200	Enhancers	Ovary	ovary
41	chr2:7122800-7124400	Enhancers	Brain Angular Gyrus	brain
42	chr2:7122800-7124400	Enhancers	Psoas Muscle	Psoas
43	chr2:7122800-7124400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:7122800-7124400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:7122800-7124800	Enhancers	Left Ventricle	heart
46	chr2:7122800-7125000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:7122800-7126200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:7123000-7124000	Enhancers	Fetal Muscle Leg	muscle
49	chr2:7123000-7124000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:7123000-7124200	Enhancers	Right Atrium	heart

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