Variant report

Variant	rs552260065
Chromosome Location	chr2:48073532-48073533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48071439..48074255-chr2:48079840..48082748,2	K562	blood:
2	chr2:48071695..48073953-chr2:48129717..48131691,2	K562	blood:
3	chr2:48070745..48074263-chr2:48075364..48078166,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
2	chr2:48048600-48080600	Weak transcription	NHLF	lung
3	chr2:48049200-48096000	Weak transcription	Gastric	stomach
4	chr2:48058200-48074000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48060200-48093000	Weak transcription	Psoas Muscle	Psoas
6	chr2:48061400-48093800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:48061600-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:48062600-48080800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:48063000-48076000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:48063600-48074400	Weak transcription	Colonic Mucosa	Colon
11	chr2:48063800-48081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:48063800-48083600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
14	chr2:48064200-48081800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:48064400-48084800	Weak transcription	NHEK	skin
16	chr2:48065000-48074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:48065000-48081000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:48065200-48086600	Weak transcription	Fetal Brain Female	brain
19	chr2:48065400-48074000	Weak transcription	Fetal Stomach	stomach
20	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:48066000-48085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
25	chr2:48066200-48080000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:48066200-48080800	Weak transcription	HSMMtube	muscle
27	chr2:48066200-48084000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:48066200-48085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
30	chr2:48066400-48074400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:48066400-48083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:48066400-48085400	Weak transcription	Osteobl	bone
33	chr2:48066400-48088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:48066400-48092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:48066600-48076000	Weak transcription	Liver	Liver
37	chr2:48066800-48074000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:48066800-48074400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:48066800-48076600	Weak transcription	Brain Anterior Caudate	brain
40	chr2:48066800-48080800	Weak transcription	Fetal Lung	lung
41	chr2:48066800-48081000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:48066800-48081400	Weak transcription	NHDF-Ad	bronchial
43	chr2:48066800-48083400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:48066800-48083600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:48066800-48084200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:48066800-48088400	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:48066800-48094200	Weak transcription	HSMM	muscle
48	chr2:48066800-48094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:48067000-48074000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:48067000-48074200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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