Variant report

Variant	rs530654947
Chromosome Location	chr2:11833587-11833588
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11832559..11835214-chr2:11848775..11850407,2	MCF-7	breast:
2	chr2:11832958..11833976-chr2:11924790..11925426,3	MCF-7	breast:
3	chr2:11832764..11833679-chr2:11919280..11919852,3	MCF-7	breast:
4	chr2:11832588..11833837-chr2:11918873..11919890,5	MCF-7	breast:
5	chr2:11832816..11833693-chr2:11918698..11919916,5	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv10240	chr2:11832427-11837975	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11828800-11836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:11829000-11836600	Weak transcription	Fetal Thymus	thymus
3	chr2:11829000-11836600	Weak transcription	Right Atrium	heart
4	chr2:11829000-11836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:11829200-11836000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:11829200-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:11829200-11836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:11829200-11836600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:11829200-11836800	Weak transcription	HUVEC	blood vessel
10	chr2:11829200-11837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:11829200-11837000	Weak transcription	HSMM	muscle
12	chr2:11829200-11838400	Weak transcription	Fetal Lung	lung
13	chr2:11829400-11836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:11829400-11836600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:11829400-11836600	Weak transcription	NHEK	skin
16	chr2:11829400-11836800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:11829400-11836800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:11829400-11837000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:11829400-11837000	Weak transcription	Fetal Heart	heart
20	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:11831400-11833800	Enhancers	Adipose Nuclei	Adipose
22	chr2:11831800-11835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:11832000-11833800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:11832400-11833800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:11832600-11834600	Weak transcription	Psoas Muscle	Psoas
26	chr2:11833000-11833600	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:11833000-11833800	Enhancers	Liver	Liver
28	chr2:11833200-11833600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:11833200-11833600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr2:11833200-11833600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:11833200-11833600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:11833200-11833600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:11833200-11833600	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:11833200-11833600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:11833200-11833600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11833200-11833600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:11833200-11833600	Enhancers	Placenta	Placenta
38	chr2:11833200-11833600	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:11833200-11833600	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:11833200-11833600	Enhancers	A549	lung
41	chr2:11833200-11833600	Enhancers	Dnd41	blood
42	chr2:11833200-11833600	Enhancers	Hela-S3	cervix
43	chr2:11833200-11833600	Enhancers	K562	blood
44	chr2:11833200-11833600	Enhancers	NHDF-Ad	bronchial
45	chr2:11833200-11833800	Enhancers	Ovary	ovary
46	chr2:11833200-11833800	Enhancers	HepG2	liver
47	chr2:11833400-11833800	Enhancers	Colonic Mucosa	Colon
48	chr2:11833400-11833800	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:11833400-11833800	Enhancers	Fetal Intestine Large	intestine
50	chr2:11833400-11833800	Enhancers	Fetal Intestine Small	intestine

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