Variant report

Variant	rs771260
Chromosome Location	chr2:7125514-7125515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13399156	0.81[ASN][1000 genomes]
rs13414682	0.80[ASN][1000 genomes]
rs1448870	0.80[JPT][hapmap]
rs2166967	0.95[JPT][hapmap]
rs3755507	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3771985	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3771990	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3771999	0.80[JPT][hapmap]
rs6720046	0.82[CEU][hapmap]
rs771254	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs771258	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs771261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771269	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs771270	0.86[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs881938	0.81[JPT][hapmap]
rs896788	0.83[AMR][1000 genomes];0.90[EUR][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:75 , 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	chr2:7121400-7129400	Weak transcription	Fetal Thymus	thymus
22	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:7121800-7125600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:7122000-7126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:7122000-7128000	Enhancers	Pancreas	Pancrea
27	chr2:7122200-7126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:7122200-7126200	Enhancers	Brain Substantia Nigra	brain
29	chr2:7122400-7126200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:7122600-7126200	Enhancers	Brain Hippocampus Middle	brain
31	chr2:7122600-7126800	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:7122800-7126200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:7123200-7126200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:7123400-7126200	Weak transcription	Fetal Kidney	kidney
35	chr2:7123600-7125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:7123600-7127000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
38	chr2:7123800-7126000	Weak transcription	Fetal Brain Male	brain
39	chr2:7123800-7126200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:7123800-7126400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:7123800-7131000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:7124000-7126000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:7124000-7126200	Weak transcription	Fetal Heart	heart
45	chr2:7124000-7126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:7124000-7130800	Weak transcription	Fetal Brain Female	brain
47	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:7124200-7126200	Weak transcription	Lung	lung

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