Variant report

Variant	rs11580742
Chromosome Location	chr1:157977572-157977573
allele	A/G
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: 4 )

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]
rs11585913	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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3892165	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6427417	1.00[CHD][hapmap]
rs6680700	1.00[CEU][hapmap]
rs6686246	1.00[CHD][hapmap]
rs7532120	0.91[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11580742	CHRNB2	cis	cerebellum	SCAN
rs11580742	SLAMF9	cis	parietal	SCAN
rs11580742	FLAD1	cis	cerebellum	SCAN
rs11580742	GON4L	cis	cerebellum	SCAN

Chromatin state (count:91 , 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	chr1:157969800-157979200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:157969800-157982200	Enhancers	Fetal Heart	heart
10	chr1:157970800-157980200	Enhancers	Fetal Lung	lung
11	chr1:157971800-157978800	Enhancers	HSMMtube	muscle
12	chr1:157972200-157978400	Weak transcription	Small Intestine	intestine
13	chr1:157973200-157977600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:157973200-157979000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:157973400-157978600	Enhancers	NHDF-Ad	bronchial
16	chr1:157973600-157977600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:157973600-157979200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:157973600-157980000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:157973800-157979000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:157974400-157979000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:157975000-157981800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:157975200-157978600	Genic enhancers	Fetal Stomach	stomach
23	chr1:157975200-157980600	Enhancers	Left Ventricle	heart
24	chr1:157975200-157980600	Enhancers	Lung	lung
25	chr1:157975400-157981600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:157975400-157982000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:157975600-157978000	Weak transcription	Fetal Thymus	thymus
29	chr1:157975600-157979800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:157975800-157980600	Enhancers	Fetal Brain Male	brain
31	chr1:157976000-157979800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:157976000-157981600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:157976000-157981800	Enhancers	Right Atrium	heart
34	chr1:157976200-157977600	Enhancers	Fetal Kidney	kidney
35	chr1:157976200-157978000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:157976200-157979400	Enhancers	NH-A	brain
37	chr1:157976200-157981800	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:157976200-157982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:157976200-157982000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:157976200-157982600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:157976200-157982800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:157976400-157977800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:157976400-157978200	Enhancers	Osteobl	bone
44	chr1:157976400-157978800	Enhancers	Spleen	Spleen
45	chr1:157976400-157979600	Enhancers	HMEC	breast
46	chr1:157976400-157979800	Enhancers	Fetal Brain Female	brain
47	chr1:157976400-157981400	Genic enhancers	Fetal Intestine Small	intestine
48	chr1:157976400-157981800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:157976400-157981800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:157976400-157982000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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