Variant report

Variant	rs72956620
Chromosome Location	chr2:99325741-99325742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99320303..99322866-chr2:99324363..99327818,3	MCF-7	breast:
2	chr2:99324587..99327520-chr2:99346109..99348267,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61163796	1.00[AMR][1000 genomes]
rs72956638	0.95[AFR][1000 genomes]
rs7576990	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:99313000-99327000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:99313200-99326600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:99319200-99336800	Weak transcription	Spleen	Spleen
6	chr2:99320400-99325800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:99320600-99327600	Weak transcription	Thymus	Thymus
8	chr2:99321000-99336200	Weak transcription	Fetal Stomach	stomach
9	chr2:99321200-99326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:99321200-99335000	Weak transcription	Lung	lung
11	chr2:99321600-99336600	Weak transcription	Fetal Kidney	kidney
12	chr2:99322000-99326200	Weak transcription	Stomach Mucosa	stomach
13	chr2:99322000-99327200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:99322000-99332600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:99322000-99334000	Weak transcription	Dnd41	blood
16	chr2:99322000-99336800	Weak transcription	Colonic Mucosa	Colon
17	chr2:99322200-99336200	Weak transcription	Fetal Intestine Large	intestine
18	chr2:99322800-99326200	Weak transcription	HepG2	liver
19	chr2:99322800-99327600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:99323400-99326400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:99323400-99327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:99323800-99326600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:99323800-99326800	Genic enhancers	Primary T cells from cord blood	blood
24	chr2:99324000-99325800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:99324000-99326800	Enhancers	Small Intestine	intestine
26	chr2:99324000-99327200	Enhancers	Right Atrium	heart
27	chr2:99324200-99326600	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr2:99324200-99336600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:99324400-99326000	Weak transcription	Right Ventricle	heart
30	chr2:99324400-99326800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:99324600-99326400	Enhancers	Brain Germinal Matrix	brain
32	chr2:99325000-99325800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:99325000-99326200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr2:99325000-99326400	Enhancers	Colon Smooth Muscle	Colon
35	chr2:99325000-99326400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr2:99325000-99326600	Enhancers	Brain Angular Gyrus	brain
37	chr2:99325000-99326600	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr2:99325000-99326800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:99325000-99326800	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:99325000-99327200	Enhancers	Psoas Muscle	Psoas
41	chr2:99325000-99328600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:99325000-99328800	Enhancers	HUVEC	blood vessel
43	chr2:99325200-99325800	Enhancers	Left Ventricle	heart
44	chr2:99325200-99326400	Enhancers	Fetal Brain Female	brain
45	chr2:99325200-99326600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:99325200-99326800	Enhancers	Liver	Liver
47	chr2:99325200-99327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:99325200-99328400	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:99325400-99325800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:99325400-99325800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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