Variant report

Variant	rs4326598
Chromosome Location	chr1:214710841-214710842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11801700	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125850	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565465	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12753039	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs17023117	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17023132	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.90[ASN][1000 genomes]
rs28565340	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4129059	0.87[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs4465173	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[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57047137	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57190864	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57535424	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58247568	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[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];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs67349118	0.86[EUR][1000 genomes]
rs67483753	0.87[ASN][1000 genomes]
rs72759615	0.83[ASN][1000 genomes]
rs72759620	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72759626	0.83[AMR][1000 genomes];0.92[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];0.87[TSI][hapmap];0.91[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4326598	ALG1L	trans	parietal	SCAN
rs4326598	KCNH1	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214699200-214711400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:214699200-214711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:214699200-214722000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:214699200-214722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:214699800-214715200	Weak transcription	Stomach Mucosa	stomach
6	chr1:214700800-214711400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:214701200-214719000	Weak transcription	Hela-S3	cervix
8	chr1:214702800-214718800	Weak transcription	Aorta	Aorta
9	chr1:214703000-214711600	Weak transcription	Psoas Muscle	Psoas
10	chr1:214703800-214711800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:214704200-214711600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:214705600-214713000	Weak transcription	Fetal Kidney	kidney
13	chr1:214706600-214711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:214706600-214713600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:214706600-214713800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:214706600-214714600	Weak transcription	Lung	lung
17	chr1:214706600-214715600	Weak transcription	Esophagus	oesophagus
18	chr1:214706600-214715600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:214706600-214715600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:214706600-214715600	Weak transcription	Left Ventricle	heart
21	chr1:214706600-214715600	Weak transcription	Ovary	ovary
22	chr1:214706600-214720000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:214706600-214720600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:214706800-214711000	Weak transcription	Fetal Stomach	stomach
25	chr1:214706800-214711400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:214706800-214711400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:214706800-214711400	Weak transcription	Osteobl	bone
28	chr1:214706800-214711600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:214706800-214713200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:214706800-214713600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:214706800-214713600	Weak transcription	NHLF	lung
32	chr1:214706800-214713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:214706800-214714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:214706800-214715600	Weak transcription	Gastric	stomach
35	chr1:214706800-214715600	Weak transcription	Pancreas	Pancrea
36	chr1:214707000-214711600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:214707000-214718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:214708400-214711400	Weak transcription	HSMM	muscle
39	chr1:214710400-214711000	Enhancers	NHEK	skin
40	chr1:214710400-214711800	Enhancers	A549	lung
41	chr1:214710400-214712200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:214710400-214712200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:214710400-214712200	Enhancers	Adipose Nuclei	Adipose
44	chr1:214710400-214712400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:214710400-214716800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:214710600-214711000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:214710600-214711000	Enhancers	Spleen	Spleen
48	chr1:214710600-214711400	Enhancers	Colon Smooth Muscle	Colon
49	chr1:214710600-214711600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:214710600-214711600	Enhancers	HUVEC	blood vessel

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