Variant report

Variant	rs7602714
Chromosome Location	chr2:30789607-30789608
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	chr2:30784836..30788020-chr2:30789591..30793366,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10197664	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10205934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10495776	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs1096110	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127276	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1113661	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676852	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678346	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252644	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612080	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12616814	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621663	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12714308	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464817	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363073	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2593432	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2593438	0.87[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2609927	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712951	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718730	0.81[JPT][hapmap]
rs711242	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71412838	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736256	0.91[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs829626	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829628	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829668	0.89[EUR][1000 genomes]
rs9789517	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7602714	GCKR	cis	parietal	SCAN
rs7602714	EMILIN1	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30774600-30790200	Weak transcription	A549	lung
13	chr2:30774600-30790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
15	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:30782800-30790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:30783000-30793000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:30783400-30791800	Weak transcription	NHEK	skin
20	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
21	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:30783800-30793000	Weak transcription	Fetal Stomach	stomach
23	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:30784000-30791800	Weak transcription	Fetal Kidney	kidney
26	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:30784000-30812200	Weak transcription	NH-A	brain
28	chr2:30784200-30793400	Strong transcription	Primary B cells from cord blood	blood
29	chr2:30784400-30793200	Weak transcription	Placenta	Placenta
30	chr2:30784600-30792600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:30784600-30793800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:30784600-30798800	Weak transcription	Liver	Liver
33	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:30785000-30794400	Weak transcription	HMEC	breast
36	chr2:30785200-30806800	Weak transcription	Lung	lung
37	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:30785800-30802800	Weak transcription	Dnd41	blood
40	chr2:30786200-30791800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:30786400-30790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:30786600-30790800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:30786600-30794400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
49	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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