Variant report

Variant	rs12071996
Chromosome Location	chr1:151616132-151616133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11204851	1.00[YRI][hapmap]
rs11204855	1.00[YRI][hapmap]
rs11204862	1.00[ASN][1000 genomes]
rs11204883	1.00[YRI][hapmap]
rs11807133	0.83[ASN][1000 genomes]
rs12065239	1.00[YRI][hapmap]
rs12066062	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12069509	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12072152	1.00[ASN][1000 genomes]
rs12077740	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12079888	1.00[YRI][hapmap]
rs12090093	1.00[YRI][hapmap]
rs12091920	1.00[YRI][hapmap]
rs12097336	1.00[YRI][hapmap]
rs1937356	1.00[YRI][hapmap]
rs2008633	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4308981	0.80[YRI][hapmap]
rs57720575	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6685811	1.00[YRI][hapmap]
rs6701792	1.00[YRI][hapmap]
rs7540761	1.00[YRI][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	nsv2843	chr1:151600069-151644709	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
2	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
4	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:151588200-151620600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
7	chr1:151589000-151617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:151589000-151620600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
10	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:151592000-151622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
14	chr1:151594000-151621000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
16	chr1:151594200-151617400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:151594200-151620600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:151597800-151616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:151601200-151617800	Weak transcription	Fetal Brain Female	brain
20	chr1:151601400-151629800	Weak transcription	Thymus	Thymus
21	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
22	chr1:151606000-151621800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:151606800-151630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:151608200-151630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
26	chr1:151610400-151626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:151610600-151617800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:151610600-151618000	Weak transcription	Ovary	ovary
29	chr1:151610600-151620600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:151610600-151620600	Weak transcription	Fetal Stomach	stomach
31	chr1:151610600-151625800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:151610600-151626000	Weak transcription	Spleen	Spleen
33	chr1:151610600-151626600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:151610600-151630600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:151610600-151631000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:151610600-151652200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:151610600-151665000	Weak transcription	Lung	lung
38	chr1:151610800-151620600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:151610800-151631000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:151611000-151625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:151611200-151619200	Weak transcription	Fetal Lung	lung
42	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:151611400-151631000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:151611600-151626600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:151611600-151628000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:151611600-151633000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:151611600-151634200	Weak transcription	Psoas Muscle	Psoas
49	chr1:151611600-151637600	Weak transcription	Fetal Heart	heart
50	chr1:151611600-151639800	Weak transcription	K562	blood

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