Variant report

Variant	rs72825768
Chromosome Location	chr2:99307175-99307176
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99301026..99304352-chr2:99305405..99307955,3	K562	blood:
2	chr2:99296638..99298946-chr2:99305631..99307983,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72825758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825777	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases
3	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
4	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:99294400-99315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:99294400-99318600	Weak transcription	Spleen	Spleen
11	chr2:99294600-99312600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:99294600-99314200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:99295200-99312600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:99295600-99310000	Weak transcription	Fetal Thymus	thymus
16	chr2:99295600-99310400	Weak transcription	Dnd41	blood
17	chr2:99300000-99315600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:99301600-99315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:99301800-99310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:99302400-99307600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:99302400-99318400	Weak transcription	Ovary	ovary
22	chr2:99302600-99308600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:99302600-99313000	Weak transcription	Right Ventricle	heart
24	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:99303800-99311800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:99304000-99307200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:99304000-99307200	Strong transcription	HepG2	liver
28	chr2:99304000-99318800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:99304800-99309000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:99305000-99316800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:99305200-99307600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:99306000-99308000	Enhancers	Gastric	stomach
33	chr2:99306400-99308200	Genic enhancers	Primary T cells from cord blood	blood
34	chr2:99306400-99308400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:99306400-99308400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:99306400-99308800	Enhancers	Pancreas	Pancrea
37	chr2:99306600-99307600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:99306600-99308000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:99306600-99308200	Enhancers	Brain Substantia Nigra	brain
40	chr2:99306600-99308400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:99306600-99308400	Enhancers	Left Ventricle	heart
42	chr2:99306600-99308400	Enhancers	Lung	lung
43	chr2:99306600-99308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:99306800-99307200	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:99306800-99307800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr2:99306800-99308000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:99306800-99308200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:99306800-99308400	Enhancers	Brain Anterior Caudate	brain
49	chr2:99306800-99308400	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:99307000-99309400	Enhancers	Primary T helper cells PMA-I stimulated	--

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