Variant report

Variant	rs7048438
Chromosome Location	chr9:100202884-100202885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100202558..100205120-chr9:100394294..100396706,2	MCF-7	breast:
2	chr9:100202190..100205138-chr9:100228533..100230539,2	K562	blood:
3	chr9:100201448..100204015-chr9:100204331..100206716,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136937	Chromatin interaction
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11999505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12001521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12002057	0.91[EUR][1000 genomes]
rs12002167	1.00[JPT][hapmap]
rs12003293	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12006001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16920147	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16920171	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16920185	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16920387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16920392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16920394	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16920403	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16920407	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16920414	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16920418	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16921066	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16921086	0.82[CHB][hapmap]
rs35600334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4073032	0.82[ASN][1000 genomes]
rs41281938	0.91[EUR][1000 genomes]
rs58008468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58099598	0.82[EUR][1000 genomes]
rs59749998	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59837265	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60023110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61418045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62557474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557494	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62557495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557498	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62557499	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62557500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557501	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62557502	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62557510	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62557511	0.91[EUR][1000 genomes]
rs62557512	0.91[EUR][1000 genomes]
rs62557513	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62557542	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62557544	0.91[EUR][1000 genomes]
rs62557545	0.91[EUR][1000 genomes]
rs62557546	0.91[EUR][1000 genomes]
rs62557548	0.91[EUR][1000 genomes]
rs62557551	0.87[EUR][1000 genomes]
rs62557552	0.87[EUR][1000 genomes]
rs62557553	0.87[EUR][1000 genomes]
rs7024030	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[EUR][1000 genomes]
rs7044475	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs732689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7853578	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871235	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	nsv893609	chr9:100163998-100297592	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100175400-100230800	Weak transcription	Psoas Muscle	Psoas
2	chr9:100175600-100245200	Weak transcription	Right Ventricle	heart
3	chr9:100176200-100203000	Weak transcription	Dnd41	blood
4	chr9:100182000-100205200	Weak transcription	Esophagus	oesophagus
5	chr9:100182000-100215600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:100182000-100234200	Weak transcription	A549	lung
7	chr9:100182200-100236000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:100182200-100263400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:100182400-100203800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:100182600-100208600	Weak transcription	HSMM	muscle
11	chr9:100184600-100205200	Weak transcription	Brain Angular Gyrus	brain
12	chr9:100185400-100204200	Weak transcription	Fetal Heart	heart
13	chr9:100188200-100204400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:100188600-100205800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:100188800-100230600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:100189200-100213800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:100189600-100203400	Weak transcription	Brain Germinal Matrix	brain
18	chr9:100190400-100203800	Weak transcription	NHEK	skin
19	chr9:100190600-100203800	Weak transcription	HMEC	breast
20	chr9:100191800-100205800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:100193000-100203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:100193000-100227600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:100193200-100241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:100194400-100204200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:100194400-100225800	Weak transcription	Spleen	Spleen
26	chr9:100194600-100238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:100194600-100248800	Weak transcription	Small Intestine	intestine
28	chr9:100194800-100205000	Weak transcription	Aorta	Aorta
29	chr9:100194800-100209800	Weak transcription	HUVEC	blood vessel
30	chr9:100195200-100204800	Weak transcription	Thymus	Thymus
31	chr9:100195400-100206600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:100195400-100227600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:100195400-100244600	Weak transcription	Colonic Mucosa	Colon
34	chr9:100195400-100259800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:100195800-100211600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr9:100196600-100206200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:100196600-100227200	Weak transcription	Ovary	ovary
38	chr9:100196600-100228200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr9:100196800-100212400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:100196800-100227600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:100197200-100210200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:100198000-100245200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:100199000-100203000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:100199200-100205600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:100199800-100211200	Weak transcription	Pancreas	Pancrea
46	chr9:100200000-100204600	Strong transcription	Primary B cells from cord blood	blood
47	chr9:100200000-100235800	Weak transcription	NHDF-Ad	bronchial
48	chr9:100200200-100203000	Strong transcription	GM12878-XiMat	blood
49	chr9:100200400-100207000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:100201200-100203000	Strong transcription	Adipose Nuclei	Adipose

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