Variant report

Variant	rs11585913
Chromosome Location	chr1:157976896-157976897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:157971104..157973206-chr1:157976191..157978623,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10796989	1.00[CHD][hapmap]
rs10796990	1.00[CHD][hapmap]
rs10796993	1.00[CHD][hapmap]
rs10908613	1.00[CHD][hapmap]
rs10908614	1.00[CHD][hapmap]
rs11580742	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17419936	1.00[CHD][hapmap]
rs1925033	1.00[CHD][hapmap]
rs1929845	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs3892165	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6427417	1.00[CHD][hapmap]
rs6680700	1.00[CEU][hapmap]
rs6686246	1.00[CHD][hapmap]
rs7532120	0.91[CEU][hapmap]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11585913	ASH1L	cis	cerebellum	SCAN
rs11585913	CHRNB2	cis	cerebellum	SCAN
rs11585913	FLAD1	cis	cerebellum	SCAN
rs11585913	PBXIP1	cis	parietal	SCAN
rs11585913	KIRREL	cis	cerebellum	SCAN
rs11585913	SLAMF9	cis	parietal	SCAN
rs11585913	PGLYRP4	cis	cerebellum	SCAN
rs11585913	ATP8B2	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157965200-157979400	Weak transcription	Thymus	Thymus
2	chr1:157965800-157983200	Weak transcription	Dnd41	blood
3	chr1:157966400-157979800	Enhancers	Ovary	ovary
4	chr1:157966600-157979600	Enhancers	Adipose Nuclei	Adipose
5	chr1:157968800-157982200	Enhancers	Placenta	Placenta
6	chr1:157969000-157988000	Weak transcription	Psoas Muscle	Psoas
7	chr1:157969200-157978400	Weak transcription	Hela-S3	cervix
8	chr1:157969800-157977000	Genic enhancers	NHEK	skin
9	chr1:157969800-157979200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:157969800-157982200	Enhancers	Fetal Heart	heart
11	chr1:157970800-157980200	Enhancers	Fetal Lung	lung
12	chr1:157971800-157978800	Enhancers	HSMMtube	muscle
13	chr1:157972000-157977200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:157972200-157978400	Weak transcription	Small Intestine	intestine
15	chr1:157973000-157977400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:157973200-157977600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:157973200-157979000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:157973400-157977200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:157973400-157978600	Enhancers	NHDF-Ad	bronchial
20	chr1:157973600-157977400	Weak transcription	Esophagus	oesophagus
21	chr1:157973600-157977600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:157973600-157979200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:157973600-157980000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:157973800-157977400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:157973800-157979000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:157974000-157977000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:157974000-157977200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:157974000-157977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:157974000-157977400	Weak transcription	Fetal Intestine Large	intestine
30	chr1:157974400-157979000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:157974600-157977400	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:157975000-157977000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:157975000-157977000	Genic enhancers	NHLF	lung
34	chr1:157975000-157977200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:157975000-157981800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:157975200-157978600	Genic enhancers	Fetal Stomach	stomach
37	chr1:157975200-157980600	Enhancers	Left Ventricle	heart
38	chr1:157975200-157980600	Enhancers	Lung	lung
39	chr1:157975400-157977200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:157975400-157977200	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr1:157975400-157977400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:157975400-157977400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:157975400-157981600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:157975400-157982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:157975600-157977200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:157975600-157977200	Genic enhancers	A549	lung
48	chr1:157975600-157978000	Weak transcription	Fetal Thymus	thymus
49	chr1:157975600-157979800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:157975800-157980600	Enhancers	Fetal Brain Male	brain

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