Variant report

Variant	rs4465173
Chromosome Location	chr1:214708698-214708699
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	chr1:214697599..214700656-chr1:214706044..214709050,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11801700	0.89[ASN][1000 genomes]
rs12125850	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565465	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12753039	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs17023117	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17023132	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.90[ASN][1000 genomes]
rs28565340	0.91[ASN][1000 genomes]
rs4129059	0.87[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.83[ASN][1000 genomes]
rs4326598	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56253402	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57047137	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57190864	0.80[ASN][1000 genomes]
rs57535424	0.81[ASN][1000 genomes]
rs58247568	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58658851	0.87[ASN][1000 genomes]
rs61443257	0.81[ASN][1000 genomes]
rs6680964	0.92[JPT][hapmap]
rs6683647	0.92[JPT][hapmap]
rs6687162	0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs67483753	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72759615	0.83[ASN][1000 genomes]
rs72759620	0.90[ASN][1000 genomes]
rs72759626	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7533482	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs7541263	0.87[CHD][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4465173	ALG1L	trans	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214688400-214710600	Weak transcription	Spleen	Spleen
2	chr1:214692400-214710600	Weak transcription	HUVEC	blood vessel
3	chr1:214698800-214710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:214699200-214711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:214699200-214711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:214699200-214722000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:214699200-214722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:214699800-214715200	Weak transcription	Stomach Mucosa	stomach
9	chr1:214700800-214711400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:214701200-214710400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:214701200-214710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:214701200-214710800	Weak transcription	NH-A	brain
13	chr1:214701200-214719000	Weak transcription	Hela-S3	cervix
14	chr1:214701400-214710600	Weak transcription	NHDF-Ad	bronchial
15	chr1:214701600-214710400	Weak transcription	A549	lung
16	chr1:214702800-214718800	Weak transcription	Aorta	Aorta
17	chr1:214703000-214710600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:214703000-214711600	Weak transcription	Psoas Muscle	Psoas
19	chr1:214703600-214710400	Weak transcription	Small Intestine	intestine
20	chr1:214703800-214711800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:214704200-214711600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:214705000-214710600	Weak transcription	Fetal Lung	lung
23	chr1:214705200-214710600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:214705600-214710600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:214705600-214713000	Weak transcription	Fetal Kidney	kidney
26	chr1:214706200-214709600	Weak transcription	Placenta	Placenta
27	chr1:214706400-214710800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:214706400-214710800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:214706600-214710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:214706600-214710600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:214706600-214710600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:214706600-214710800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:214706600-214710800	Weak transcription	Right Ventricle	heart
34	chr1:214706600-214711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:214706600-214713600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:214706600-214713800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:214706600-214714600	Weak transcription	Lung	lung
38	chr1:214706600-214715600	Weak transcription	Esophagus	oesophagus
39	chr1:214706600-214715600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:214706600-214715600	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:214706600-214715600	Weak transcription	Left Ventricle	heart
42	chr1:214706600-214715600	Weak transcription	Ovary	ovary
43	chr1:214706600-214720000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:214706600-214720600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:214706800-214710400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:214706800-214710400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:214706800-214710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:214706800-214710600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:214706800-214710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:214706800-214711000	Weak transcription	Fetal Stomach	stomach

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