Variant report

Variant	rs72819466
Chromosome Location	chr2:95843013-95843014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95842139..95845316-chr2:95846030..95848957,3	MCF-7	breast:
2	chr2:95836491..95838392-chr2:95840410..95843594,3	MCF-7	breast:
3	chr2:95828222..95833713-chr2:95836399..95844526,15	MCF-7	breast:
4	chr2:95841614..95845091-chr2:95847928..95851123,3	K562	blood:
5	chr2:95829409..95833600-chr2:95842624..95845699,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163067	Chromatin interaction
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs72819427	0.83[EUR][1000 genomes]
rs72819453	0.91[EUR][1000 genomes]
rs72819463	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72819465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819479	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819493	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72819495	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72821406	1.00[AMR][1000 genomes];0.87[EUR][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	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95832200-95843200	Weak transcription	Esophagus	oesophagus
2	chr2:95832200-95843200	Weak transcription	Left Ventricle	heart
3	chr2:95832200-95845200	Weak transcription	Placenta	Placenta
4	chr2:95832400-95843400	Weak transcription	Psoas Muscle	Psoas
5	chr2:95832400-95845200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:95832400-95845200	Weak transcription	Colonic Mucosa	Colon
7	chr2:95832400-95845400	Weak transcription	Pancreas	Pancrea
8	chr2:95832400-95845600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:95832400-95846400	Weak transcription	Fetal Brain Male	brain
10	chr2:95832400-95846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:95832600-95843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:95832600-95843200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:95832600-95843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:95832600-95843400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:95832600-95843600	Weak transcription	Fetal Brain Female	brain
16	chr2:95832600-95843800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:95832600-95844000	Weak transcription	Small Intestine	intestine
18	chr2:95832600-95844400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:95832600-95845000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:95832600-95845200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:95832600-95845200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:95832600-95845200	Weak transcription	HSMM	muscle
23	chr2:95832600-95845400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:95832600-95845600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:95832600-95845600	Weak transcription	Fetal Thymus	thymus
26	chr2:95832600-95846600	Weak transcription	NHDF-Ad	bronchial
27	chr2:95832600-95847000	Weak transcription	K562	blood
28	chr2:95832800-95843200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:95832800-95843400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:95832800-95843600	Weak transcription	Gastric	stomach
31	chr2:95832800-95844000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:95832800-95845200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:95832800-95845200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:95832800-95845200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:95832800-95845200	Weak transcription	HSMMtube	muscle
36	chr2:95832800-95845400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:95832800-95846600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:95832800-95850200	Weak transcription	Hela-S3	cervix
39	chr2:95833000-95843200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:95833000-95843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:95833000-95845200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:95833000-95845200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:95833000-95845200	Weak transcription	Thymus	Thymus
44	chr2:95833000-95845200	Weak transcription	Dnd41	blood
45	chr2:95833000-95846000	Weak transcription	NHEK	skin
46	chr2:95837400-95843200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:95837600-95845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:95838000-95846400	Weak transcription	NHLF	lung
49	chr2:95838200-95845200	Weak transcription	Spleen	Spleen
50	chr2:95838400-95851400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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