Variant report

Variant	rs72951033
Chromosome Location	chr2:58279150-58279151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58277557..58280440-chr2:58305019..58306966,2	K562	blood:
2	chr2:58278365..58281283-chr2:58466929..58468495,2	MCF-7	breast:
3	chr2:58251668..58253747-chr2:58277499..58279387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115392	Chromatin interaction
ENSG00000273063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58756932	0.83[AFR][1000 genomes]
rs72948858	0.83[AFR][1000 genomes]
rs72948864	0.83[AFR][1000 genomes]
rs72949133	0.88[AFR][1000 genomes]
rs72951034	0.94[AFR][1000 genomes]
rs72953128	0.83[AFR][1000 genomes]

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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274600-58283600	Weak transcription	Gastric	stomach
2	chr2:58274600-58298600	Weak transcription	Spleen	Spleen
3	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:58274800-58282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:58274800-58296400	Weak transcription	Ovary	ovary
6	chr2:58274800-58296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
8	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:58275000-58280200	Weak transcription	Fetal Lung	lung
10	chr2:58275000-58282000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:58275000-58282200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:58275000-58282200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:58275000-58282200	Weak transcription	Left Ventricle	heart
14	chr2:58275000-58283800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:58275000-58285000	Weak transcription	Fetal Intestine Large	intestine
16	chr2:58275000-58285000	Weak transcription	Placenta	Placenta
17	chr2:58275000-58285400	Weak transcription	Fetal Thymus	thymus
18	chr2:58275000-58287800	Weak transcription	Fetal Kidney	kidney
19	chr2:58275000-58290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:58275000-58290800	Weak transcription	Thymus	Thymus
21	chr2:58275000-58291000	Weak transcription	HSMM	muscle
22	chr2:58275000-58297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
24	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
25	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
29	chr2:58275200-58283600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:58275400-58281800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:58275400-58283200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:58275400-58283400	Weak transcription	Primary B cells from cord blood	blood
33	chr2:58275400-58283800	Weak transcription	Right Ventricle	heart
34	chr2:58275400-58290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:58275400-58290600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:58275400-58290600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:58275400-58290800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:58275400-58291000	Weak transcription	NH-A	brain
39	chr2:58275400-58294400	Weak transcription	Fetal Intestine Small	intestine
40	chr2:58275600-58280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:58275600-58280800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:58275600-58281200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:58275600-58281600	Weak transcription	Fetal Brain Male	brain
44	chr2:58275600-58282000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:58275600-58282200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:58275600-58282200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:58275600-58282200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:58275600-58282200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:58275600-58282200	Weak transcription	Fetal Heart	heart
50	chr2:58275600-58282200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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