Variant report

Variant	rs11921860
Chromosome Location	chr3:119048872-119048873
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119040997..119045560-chr3:119046722..119050872,5	K562	blood:
2	chr3:119040533..119045560-chr3:119045561..119050872,12	K562	blood:
3	chr3:119041366..119045154-chr3:119046425..119049987,5	MCF-7	breast:
4	chr3:119045537..119049626-chr3:119052248..119055183,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11916942	1.00[EUR][1000 genomes]
rs11917054	1.00[EUR][1000 genomes]
rs11918611	1.00[EUR][1000 genomes]
rs11919244	1.00[EUR][1000 genomes]
rs11927863	1.00[EUR][1000 genomes]
rs13327592	1.00[EUR][1000 genomes]
rs4687974	1.00[EUR][1000 genomes]
rs57447123	1.00[EUR][1000 genomes]
rs58318736	1.00[EUR][1000 genomes]
rs58369563	1.00[EUR][1000 genomes]
rs72962565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968486	1.00[EUR][1000 genomes]
rs73857025	1.00[EUR][1000 genomes]
rs7611869	1.00[EUR][1000 genomes]
rs9810251	1.00[EUR][1000 genomes]
rs9810388	1.00[EUR][1000 genomes]
rs9824383	1.00[EUR][1000 genomes]
rs9828041	1.00[EUR][1000 genomes]
rs9830074	1.00[EUR][1000 genomes]
rs9841997	1.00[EUR][1000 genomes]
rs9846150	1.00[EUR][1000 genomes]
rs9847851	1.00[EUR][1000 genomes]
rs9853937	1.00[EUR][1000 genomes]
rs9860820	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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119042600-119050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:119042600-119050400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:119042600-119050400	Weak transcription	HSMMtube	muscle
5	chr3:119042600-119050400	Weak transcription	NHEK	skin
6	chr3:119042600-119054000	Weak transcription	NHLF	lung
7	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
8	chr3:119042800-119050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119042800-119050600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:119042800-119051600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:119042800-119051600	Weak transcription	Spleen	Spleen
12	chr3:119042800-119052800	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:119042800-119053000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
17	chr3:119043000-119050600	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:119043000-119051600	Weak transcription	HUVEC	blood vessel
19	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
20	chr3:119043200-119062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:119043800-119050200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:119044400-119050400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:119044400-119050600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:119044400-119052000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:119045800-119050400	Weak transcription	Adipose Nuclei	Adipose
26	chr3:119045800-119050400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:119046000-119052800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:119046000-119056000	Weak transcription	Fetal Thymus	thymus
29	chr3:119046000-119064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:119046000-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:119046800-119056000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:119047000-119053800	Enhancers	Fetal Stomach	stomach
33	chr3:119047200-119052000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:119047400-119050400	Weak transcription	GM12878-XiMat	blood
35	chr3:119047800-119049400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:119047800-119053600	Enhancers	Ovary	ovary
37	chr3:119048000-119049200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:119048000-119049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:119048000-119049400	Enhancers	Placenta	Placenta
40	chr3:119048000-119049400	Genic enhancers	Left Ventricle	heart
41	chr3:119048000-119049600	Strong transcription	NH-A	brain
42	chr3:119048000-119051000	Enhancers	Right Atrium	heart
43	chr3:119048000-119051800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:119048000-119052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:119048000-119054600	Enhancers	Fetal Heart	heart
46	chr3:119048200-119049200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:119048400-119049000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:119048400-119049200	Strong transcription	Aorta	Aorta
49	chr3:119048400-119049200	Genic enhancers	Lung	lung
50	chr3:119048400-119049400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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