Variant report

Variant	rs10494975
Chromosome Location	chr1:214603631-214603632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11810814	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810825	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17022944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375234	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10494975	NEK2	cis	cerebellum	SCAN
rs10494975	HHAT	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214572600-214612600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:214576800-214612200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:214591400-214612800	Weak transcription	Pancreas	Pancrea
4	chr1:214593200-214613000	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:214593400-214612800	Weak transcription	Ovary	ovary
6	chr1:214594000-214618000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:214595400-214612800	Weak transcription	Aorta	Aorta
8	chr1:214596000-214614000	Weak transcription	Right Ventricle	heart
9	chr1:214596800-214612800	Weak transcription	Left Ventricle	heart
10	chr1:214597200-214604200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:214598600-214603800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:214599400-214604000	Weak transcription	Fetal Brain Male	brain
13	chr1:214600200-214612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:214600800-214604000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:214601400-214612800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:214601600-214604200	Enhancers	HUVEC	blood vessel
17	chr1:214601600-214604600	Enhancers	NHDF-Ad	bronchial
18	chr1:214601600-214605000	Weak transcription	Psoas Muscle	Psoas
19	chr1:214601600-214605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:214601600-214611600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:214601600-214625200	Weak transcription	Esophagus	oesophagus
22	chr1:214601600-214633000	Weak transcription	Gastric	stomach
23	chr1:214601800-214605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:214601800-214611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:214601800-214612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:214601800-214613000	Weak transcription	Stomach Mucosa	stomach
27	chr1:214602000-214604400	Enhancers	Primary T cells from cord blood	blood
28	chr1:214602000-214612600	Weak transcription	HSMMtube	muscle
29	chr1:214602400-214603800	Enhancers	Dnd41	blood
30	chr1:214602400-214611000	Weak transcription	Thymus	Thymus
31	chr1:214602400-214611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:214602600-214609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:214602600-214611400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:214602800-214617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:214603000-214603800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:214603000-214604400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:214603000-214609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214603200-214603800	Enhancers	HMEC	breast
39	chr1:214603400-214603800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:214603400-214603800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:214603400-214603800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:214603400-214603800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:214603400-214604000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:214603400-214604000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:214603400-214604000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:214603400-214604000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:214603400-214604200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:214603400-214604200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:214603400-214604200	Genic enhancers	NHEK	skin
50	chr1:214603400-214604800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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