Variant report

Variant	rs9789517
Chromosome Location	chr2:30785824-30785825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30785460..30787626-chr2:30791866..30794044,2	K562	blood:
2	chr2:30453060..30454575-chr2:30784825..30787236,2	K562	blood:
3	chr2:30784836..30788020-chr2:30789591..30793366,5	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

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];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10205934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10495776	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap]
rs1096110	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[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	0.85[AMR][1000 genomes];0.96[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];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678346	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1252644	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612080	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12616814	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621663	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714308	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1464817	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2363073	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712951	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718730	0.81[JPT][hapmap]
rs711242	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71412838	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736256	0.91[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7602714	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]
rs829626	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829628	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829668	0.91[EUR][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
rs9789517	EMILIN1	cis	parietal	SCAN
rs9789517	GCKR	cis	parietal	SCAN

Chromatin state (count:79 , 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	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:30774600-30790200	Weak transcription	A549	lung
14	chr2:30774600-30790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
16	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:30777400-30786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30779400-30786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:30781000-30786600	Weak transcription	NHDF-Ad	bronchial
20	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:30781400-30788600	Weak transcription	Pancreas	Pancrea
22	chr2:30781800-30788600	Weak transcription	Ovary	ovary
23	chr2:30782600-30788000	Weak transcription	NHLF	lung
24	chr2:30782800-30790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:30783000-30788800	Weak transcription	Fetal Heart	heart
26	chr2:30783000-30793000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:30783400-30786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:30783400-30788600	Weak transcription	Osteobl	bone
29	chr2:30783400-30791800	Weak transcription	NHEK	skin
30	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
31	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:30783600-30788600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:30783600-30788600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:30783600-30789400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:30783800-30788000	Weak transcription	Psoas Muscle	Psoas
36	chr2:30783800-30793000	Weak transcription	Fetal Stomach	stomach
37	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:30784000-30791800	Weak transcription	Fetal Kidney	kidney
40	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:30784000-30812200	Weak transcription	NH-A	brain
42	chr2:30784200-30786400	Strong transcription	Primary T cells from cord blood	blood
43	chr2:30784200-30793400	Strong transcription	Primary B cells from cord blood	blood
44	chr2:30784400-30786600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:30784400-30787600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:30784400-30788000	Weak transcription	Right Ventricle	heart
47	chr2:30784400-30788600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:30784400-30788800	Weak transcription	HSMM	muscle
49	chr2:30784400-30793200	Weak transcription	Placenta	Placenta
50	chr2:30784600-30786400	Strong transcription	HepG2	liver

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