Variant report

Variant	rs10195537
Chromosome Location	chr2:30849343-30849344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30849068..30850871-chr2:30861808..30864267,2	K562	blood:
2	chr2:30848701..30851520-chr2:30857233..30859467,2	K562	blood:
3	chr2:30842622..30844929-chr2:30848686..30850869,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10153933	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10180872	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10189926	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10199517	1.00[YRI][hapmap]
rs10201957	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10203381	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10207070	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs10207451	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1026066	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11127283	0.90[EUR][1000 genomes]
rs12185696	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13414637	0.82[AMR][1000 genomes]
rs13429099	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13430761	1.00[CEU][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1357849	1.00[YRI][hapmap]
rs17323641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394450	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs1869427	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1869431	1.00[YRI][hapmap]
rs1880540	1.00[YRI][hapmap]
rs2363078	0.82[AMR][1000 genomes]
rs2885931	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62139626	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62139651	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62142162	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs722019	0.86[AMR][1000 genomes]
rs9808079	1.00[YRI][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	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10195537	EMILIN1	cis	parietal	SCAN
rs10195537	LCLAT1	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30811600-30863000	Weak transcription	Ovary	ovary
5	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
8	chr2:30834800-30849400	Weak transcription	Pancreas	Pancrea
9	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
10	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
11	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:30837600-30863000	Weak transcription	HepG2	liver
14	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
19	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:30845200-30850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30845400-30849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
29	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
30	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:30845600-30852800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
34	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
35	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:30845600-30863000	Weak transcription	A549	lung
39	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:30848000-30850200	Enhancers	Fetal Heart	heart
43	chr2:30848200-30849600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:30848600-30851000	Flanking Active TSS	GM12878-XiMat	blood
45	chr2:30848800-30849400	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:30848800-30850200	Enhancers	Brain Germinal Matrix	brain
47	chr2:30849000-30850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:30849000-30863800	Weak transcription	K562	blood
49	chr2:30849200-30849600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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