Variant report

Variant	rs11901478
Chromosome Location	chr2:9799143-9799144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9771970..9774412-chr2:9797666..9799794,2	K562	blood:
2	chr2:9797605..9799669-chr2:9803320..9804886,2	MCF-7	breast:
3	chr2:9797495..9799232-chr2:9803127..9805069,2	K562	blood:
4	chr2:9782654..9789334-chr2:9794560..9799702,7	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1004488	1.00[EUR][1000 genomes]
rs10185303	1.00[TSI][hapmap];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]
rs11685143	1.00[EUR][1000 genomes]
rs11900302	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392859	1.00[EUR][1000 genomes]
rs13392861	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13417294	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13420034	1.00[EUR][1000 genomes]
rs16867063	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16867103	1.00[EUR][1000 genomes]
rs16867145	1.00[MEX][hapmap];1.00[TSI][hapmap];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]
rs6734361	1.00[MEX][hapmap]
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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv527083	chr2:9797994-9810648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9790800-9799200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:9790800-9801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:9792800-9801600	Weak transcription	Spleen	Spleen
4	chr2:9794200-9799400	Enhancers	HMEC	breast
5	chr2:9794400-9799600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:9794400-9800400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:9794600-9799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:9794800-9800400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:9795000-9799200	Enhancers	Osteobl	bone
10	chr2:9795400-9799200	Enhancers	HSMM	muscle
11	chr2:9795600-9799200	Enhancers	HSMMtube	muscle
12	chr2:9796600-9799600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:9796800-9799600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:9797000-9799400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:9797000-9799400	Enhancers	GM12878-XiMat	blood
16	chr2:9797000-9802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:9797600-9802200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:9797800-9808800	Weak transcription	Pancreas	Pancrea
19	chr2:9798000-9799200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:9798000-9799400	Enhancers	A549	lung
21	chr2:9798000-9799600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:9798000-9803200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:9798400-9799400	Enhancers	NH-A	brain
24	chr2:9798400-9800800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:9798400-9804200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:9798600-9799400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:9798600-9799600	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:9798800-9799400	Enhancers	NHEK	skin
29	chr2:9798800-9799600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:9799000-9799200	Bivalent Enhancer	HepG2	liver
31	chr2:9799000-9799600	Enhancers	Placenta	Placenta
32	chr2:9799000-9803400	Weak transcription	NHDF-Ad	bronchial

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