Variant report

Variant	rs1448870
Chromosome Location	chr2:7119224-7119225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11685858	0.81[CEU][hapmap]
rs1448869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166967	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34393586	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3771999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772000	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669122	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55736658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771254	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs771260	0.80[JPT][hapmap]
rs771261	0.81[CHB][hapmap]
rs771272	0.81[CEU][hapmap]
rs881938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:67 , 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	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:7096800-7120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:7099000-7123600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
10	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:7104200-7120600	Strong transcription	Dnd41	blood
13	chr2:7105600-7120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:7106200-7123200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:7110600-7120200	Weak transcription	Fetal Thymus	thymus
17	chr2:7111600-7126400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:7112400-7122400	Weak transcription	Fetal Kidney	kidney
19	chr2:7112400-7122800	Weak transcription	Ovary	ovary
20	chr2:7112600-7119600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:7113000-7122800	Weak transcription	Lung	lung
22	chr2:7113400-7120600	Weak transcription	Thymus	Thymus
23	chr2:7113600-7123600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:7114400-7126200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:7114600-7120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:7115400-7119600	Enhancers	Brain Substantia Nigra	brain
27	chr2:7115800-7119600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
29	chr2:7116000-7119600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:7116000-7120600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:7116200-7119800	Enhancers	Brain Anterior Caudate	brain
32	chr2:7116400-7120800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:7117200-7122600	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:7117400-7119400	Enhancers	Adipose Nuclei	Adipose
35	chr2:7117400-7119400	Enhancers	Left Ventricle	heart
36	chr2:7117400-7119400	Enhancers	Pancreas	Pancrea
37	chr2:7117400-7119600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:7117600-7119600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:7117600-7120600	Weak transcription	HUVEC	blood vessel
40	chr2:7117600-7121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:7117600-7126200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:7117800-7119600	Enhancers	Brain Angular Gyrus	brain
43	chr2:7117800-7122800	Weak transcription	Fetal Brain Female	brain
44	chr2:7117800-7122800	Weak transcription	Fetal Heart	heart
45	chr2:7118000-7120600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:7118000-7123000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:7118200-7119600	Enhancers	Spleen	Spleen
48	chr2:7118200-7120000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:7118200-7120800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:7118200-7123200	Weak transcription	Fetal Brain Male	brain

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