Variant report

Variant	rs72951034
Chromosome Location	chr2:58282405-58282406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58281941..58283918-chr2:58310687..58313540,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72949133	0.83[AFR][1000 genomes]
rs72951033	0.94[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:109 , 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	chr2:58274800-58296400	Weak transcription	Ovary	ovary
5	chr2:58274800-58296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
7	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:58275000-58283800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:58275000-58285000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:58275000-58285000	Weak transcription	Placenta	Placenta
11	chr2:58275000-58285400	Weak transcription	Fetal Thymus	thymus
12	chr2:58275000-58287800	Weak transcription	Fetal Kidney	kidney
13	chr2:58275000-58290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:58275000-58290800	Weak transcription	Thymus	Thymus
15	chr2:58275000-58291000	Weak transcription	HSMM	muscle
16	chr2:58275000-58297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
18	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
19	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
23	chr2:58275200-58283600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:58275400-58283200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:58275400-58283400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:58275400-58283800	Weak transcription	Right Ventricle	heart
27	chr2:58275400-58290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:58275400-58290600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:58275400-58290600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:58275400-58290800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:58275400-58291000	Weak transcription	NH-A	brain
32	chr2:58275400-58294400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:58275600-58283200	Weak transcription	NHLF	lung
34	chr2:58275600-58283600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:58275600-58285000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:58275600-58286800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:58275600-58287200	Weak transcription	NHDF-Ad	bronchial
38	chr2:58275600-58289000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:58275600-58289800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:58275600-58291000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:58275600-58291000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:58275600-58293800	Weak transcription	Small Intestine	intestine
43	chr2:58275800-58290600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:58275800-58316800	Weak transcription	HMEC	breast
45	chr2:58276000-58285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:58276200-58283800	Weak transcription	HepG2	liver
47	chr2:58276200-58284600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:58276200-58289600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:58276400-58283600	Weak transcription	HUVEC	blood vessel
50	chr2:58276400-58285000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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