Variant report

Variant	rs11685143
Chromosome Location	chr2:9849635-9849636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9847027..9849818-chr2:9850088..9852900,2	K562	blood:
2	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
3	chr2:9769741..9772155-chr2:9846974..9850798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10185303	1.00[EUR][1000 genomes]
rs10188428	1.00[EUR][1000 genomes]
rs10200454	1.00[EUR][1000 genomes]
rs10208526	1.00[EUR][1000 genomes]
rs10469619	1.00[EUR][1000 genomes]
rs11900302	1.00[EUR][1000 genomes]
rs11901478	1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[EUR][1000 genomes]
rs13417294	1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[EUR][1000 genomes]
rs4327210	1.00[EUR][1000 genomes]
rs56832685	1.00[EUR][1000 genomes]
rs57119165	1.00[EUR][1000 genomes]
rs58377484	1.00[EUR][1000 genomes]
rs59042599	1.00[EUR][1000 genomes]
rs59457002	1.00[EUR][1000 genomes]
rs60115192	1.00[EUR][1000 genomes]
rs73155171	1.00[EUR][1000 genomes]
rs73164230	1.00[EUR][1000 genomes]
rs73164231	1.00[EUR][1000 genomes]
rs73164234	1.00[EUR][1000 genomes]
rs73164238	1.00[EUR][1000 genomes]
rs73164239	1.00[EUR][1000 genomes]
rs73164242	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9843800-9852000	Weak transcription	Left Ventricle	heart
2	chr2:9844200-9852000	Weak transcription	Esophagus	oesophagus
3	chr2:9844600-9849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:9845000-9850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:9845200-9849800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:9845200-9852000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:9845400-9860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:9845600-9851600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:9846800-9854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:9848000-9850600	Enhancers	GM12878-XiMat	blood
11	chr2:9848000-9852400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:9848200-9852200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:9848400-9850600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:9848400-9851200	Weak transcription	Right Ventricle	heart
15	chr2:9848400-9852400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:9848800-9850200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:9849000-9849800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:9849000-9852400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:9849400-9852000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:9849400-9852400	Weak transcription	K562	blood
21	chr2:9849600-9849800	ZNF genes & repeats	Pancreas	Pancrea
22	chr2:9849600-9850200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:9849600-9850400	ZNF genes & repeats	Spleen	Spleen
24	chr2:9849600-9850600	Enhancers	HMEC	breast

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