Variant report

Variant	rs72956642
Chromosome Location	chr2:99354034-99354035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99352512..99355304-chr2:99377484..99380437,2	MCF-7	breast:
2	chr2:99097067..99098913-chr2:99352317..99355051,2	MCF-7	breast:
3	chr2:99352944..99355702-chr2:99450894..99453779,2	MCF-7	breast:
4	chr2:99344987..99348857-chr2:99353398..99358314,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10496331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11123750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12611496	0.96[ASN][1000 genomes]
rs12616910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56943554	0.81[ASN][1000 genomes]
rs57480100	0.81[ASN][1000 genomes]
rs61419135	0.81[ASN][1000 genomes]
rs61552487	0.81[ASN][1000 genomes]
rs61604726	0.81[ASN][1000 genomes]
rs72956641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72956651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7557719	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99348600-99359200	Weak transcription	Aorta	Aorta
3	chr2:99348800-99360600	Weak transcription	Lung	lung
4	chr2:99349200-99357200	Enhancers	HepG2	liver
5	chr2:99349400-99355800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:99349800-99355200	Enhancers	Fetal Thymus	thymus
7	chr2:99351200-99355600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:99351400-99355000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:99351400-99355800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:99351600-99355000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:99351600-99355800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:99351800-99354400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:99351800-99354400	Weak transcription	Thymus	Thymus
14	chr2:99351800-99354600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:99351800-99355200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:99351800-99355200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:99351800-99355400	Enhancers	Primary T cells from cord blood	blood
18	chr2:99351800-99355800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:99351800-99356200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:99351800-99356600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:99351800-99356600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:99351800-99360400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:99351800-99360600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:99352600-99355200	Enhancers	Small Intestine	intestine
25	chr2:99352800-99354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:99352800-99359000	Weak transcription	Placenta	Placenta
27	chr2:99352800-99360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:99353200-99356800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:99353400-99354400	Weak transcription	Dnd41	blood
30	chr2:99353400-99354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:99353400-99358000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:99353400-99359400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:99353400-99360400	Weak transcription	HMEC	breast
34	chr2:99353600-99355200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:99353600-99355600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:99353600-99359400	Weak transcription	HUVEC	blood vessel
37	chr2:99353800-99355200	Enhancers	Gastric	stomach
38	chr2:99353800-99355600	Enhancers	Pancreas	Pancrea
39	chr2:99354000-99359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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