Variant report

Variant	rs864553
Chromosome Location	chr1:95378425-95378426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95377680..95379295-chr1:95379412..95382350,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10465759	0.85[CEU][hapmap]
rs11801110	0.84[CEU][hapmap]
rs3890785	0.84[CEU][hapmap]
rs6674467	0.85[CEU][hapmap]
rs6678809	0.85[CEU][hapmap]
rs6680551	0.85[CEU][hapmap]
rs6684137	0.85[CEU][hapmap]
rs6697256	0.85[CEU][hapmap]
rs859040	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs864553	F3	cis	parietal	SCAN
rs864553	PTBP2	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
2	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:95361400-95379600	Weak transcription	Esophagus	oesophagus
4	chr1:95364000-95388600	Weak transcription	Fetal Brain Male	brain
5	chr1:95364800-95384800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:95368400-95388400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:95368400-95390600	Weak transcription	Fetal Thymus	thymus
8	chr1:95369000-95388200	Weak transcription	Fetal Brain Female	brain
9	chr1:95371000-95379600	Weak transcription	Pancreas	Pancrea
10	chr1:95372800-95385000	Weak transcription	Fetal Kidney	kidney
11	chr1:95373800-95382400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr1:95374000-95381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:95374000-95384600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:95374600-95381200	Weak transcription	Fetal Stomach	stomach
15	chr1:95374800-95379800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:95375000-95380200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:95375400-95379800	Weak transcription	Psoas Muscle	Psoas
18	chr1:95375400-95381000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:95375400-95382000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:95375800-95384400	Weak transcription	Fetal Heart	heart
21	chr1:95375800-95385000	Weak transcription	A549	lung
22	chr1:95376000-95384800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:95376200-95384600	Weak transcription	Fetal Lung	lung
24	chr1:95376400-95379000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:95376400-95379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:95376400-95379000	Enhancers	HepG2	liver
27	chr1:95376400-95383200	Weak transcription	HMEC	breast
28	chr1:95376400-95384800	Weak transcription	HUVEC	blood vessel
29	chr1:95376400-95385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:95376600-95379600	Weak transcription	Left Ventricle	heart
31	chr1:95376600-95381200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:95376600-95381200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:95376600-95383400	Weak transcription	HSMMtube	muscle
34	chr1:95376600-95385000	Weak transcription	NHEK	skin
35	chr1:95376800-95383200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:95377000-95379200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:95377000-95379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:95377200-95380000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:95377200-95380200	Enhancers	Ovary	ovary
40	chr1:95377200-95380800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:95377200-95381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:95377200-95385400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:95377400-95379600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:95377400-95379800	Weak transcription	Lung	lung
45	chr1:95377600-95378800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:95377600-95379600	Enhancers	Liver	Liver
47	chr1:95377600-95380000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:95377800-95379400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:95377800-95379800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:95377800-95379800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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