Variant report

Variant	rs711237
Chromosome Location	chr2:30649220-30649221
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30643798..30646343-chr2:30647095..30650083,5	K562	blood:
2	chr2:30643130..30645110-chr2:30649070..30651101,2	MCF-7	breast:
3	chr2:30643531..30645684-chr2:30646943..30651051,5	K562	blood:
4	chr2:30647371..30649841-chr2:30651246..30653133,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495776	0.89[GIH][hapmap];0.81[JPT][hapmap]
rs1252655	1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs12621663	0.87[GIH][hapmap]
rs12714306	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13430418	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2593438	0.81[JPT][hapmap]
rs6712951	0.87[GIH][hapmap]
rs711240	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7602714	0.87[GIH][hapmap]
rs829593	0.81[EUR][1000 genomes]
rs829596	0.88[EUR][1000 genomes]
rs829601	0.87[EUR][1000 genomes]
rs829603	0.85[EUR][1000 genomes]
rs829626	0.87[GIH][hapmap]
rs864910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789517	0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs711237	GCKR	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30644400-30650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:30645000-30652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:30645600-30650800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:30645600-30650800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:30645600-30651000	Weak transcription	Gastric	stomach
6	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:30645800-30650800	Weak transcription	Stomach Mucosa	stomach
8	chr2:30645800-30651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30645800-30651000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
11	chr2:30646000-30653400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:30646400-30651000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:30646400-30651200	Weak transcription	K562	blood
14	chr2:30646400-30651600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:30646400-30652400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:30646400-30656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
18	chr2:30647600-30650800	Weak transcription	Fetal Thymus	thymus
19	chr2:30647600-30651400	Weak transcription	Dnd41	blood
20	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
21	chr2:30648000-30649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:30648000-30650800	Weak transcription	Fetal Heart	heart
23	chr2:30648600-30650800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:30648600-30655400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:30648600-30655400	Weak transcription	NHDF-Ad	bronchial
26	chr2:30648600-30655400	Weak transcription	Osteobl	bone
27	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:30649000-30649400	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:30649000-30650000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:30649000-30651600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:30649000-30652200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:30649200-30649400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:30649200-30649600	Enhancers	Primary T cells from cord blood	blood
34	chr2:30649200-30649600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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