Variant report

Variant	rs17022944
Chromosome Location	chr1:214611208-214611209
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	chr1:214611152..214615489-chr1:214618364..214620847,4	MCF-7	breast:
2	chr1:214610565..214613807-chr1:214625696..214628799,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10494975	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]
rs11810814	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253890	0.84[LWK][hapmap];0.81[AFR][1000 genomes]
rs4375234	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6677050	0.84[LWK][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17022944	HHAT	cis	cerebellum	SCAN
rs17022944	NEK2	cis	cerebellum	SCAN

Chromatin state (count:64 , 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	chr1:214600200-214612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:214601400-214612800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:214601600-214611600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:214601600-214625200	Weak transcription	Esophagus	oesophagus
14	chr1:214601600-214633000	Weak transcription	Gastric	stomach
15	chr1:214601800-214612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:214601800-214613000	Weak transcription	Stomach Mucosa	stomach
17	chr1:214602000-214612600	Weak transcription	HSMMtube	muscle
18	chr1:214602400-214611800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:214602600-214611400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:214602800-214617600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:214603800-214611400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:214603800-214611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:214603800-214612000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:214604000-214611600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:214604000-214617600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:214604600-214612400	Weak transcription	NH-A	brain
27	chr1:214604600-214612800	Weak transcription	NHDF-Ad	bronchial
28	chr1:214604600-214613000	Weak transcription	NHLF	lung
29	chr1:214604800-214611600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:214604800-214611600	Weak transcription	NHEK	skin
31	chr1:214605000-214611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:214605600-214611600	Weak transcription	Psoas Muscle	Psoas
33	chr1:214608200-214611400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:214609400-214611600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:214609600-214611400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:214609800-214611600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:214609800-214612000	Weak transcription	Osteobl	bone
38	chr1:214609800-214612400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:214610200-214611400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:214610400-214611600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:214610400-214612800	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:214610400-214615800	Enhancers	HUVEC	blood vessel
43	chr1:214610400-214620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:214610600-214617000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:214610800-214612600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:214610800-214612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:214611000-214611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:214611000-214612400	Enhancers	A549	lung
49	chr1:214611000-214612600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:214611000-214612600	Enhancers	Thymus	Thymus

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