Variant report

Variant	rs10183473
Chromosome Location	chr2:99352764-99352765
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	chr2:99346676..99348606-chr2:99349694..99353065,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10191603	0.88[AFR][1000 genomes]
rs10207621	0.88[AFR][1000 genomes]
rs11885661	1.00[AMR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes]
rs13382404	0.88[AFR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes]
rs28419445	0.88[AFR][1000 genomes]
rs59230956	0.88[AFR][1000 genomes]
rs61547213	0.88[AFR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes]
rs6754711	1.00[AMR][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	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	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99348600-99353000	Weak transcription	NHEK	skin
3	chr2:99348600-99359200	Weak transcription	Aorta	Aorta
4	chr2:99348800-99353000	Weak transcription	HMEC	breast
5	chr2:99348800-99360600	Weak transcription	Lung	lung
6	chr2:99349200-99357200	Enhancers	HepG2	liver
7	chr2:99349400-99353800	Weak transcription	Pancreas	Pancrea
8	chr2:99349400-99355800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99349800-99355200	Enhancers	Fetal Thymus	thymus
10	chr2:99350400-99353200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:99350800-99352800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:99351200-99355600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:99351400-99352800	Weak transcription	HUVEC	blood vessel
14	chr2:99351400-99355000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:99351400-99355800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:99351600-99353000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:99351600-99353000	Weak transcription	GM12878-XiMat	blood
18	chr2:99351600-99353200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:99351600-99353400	Enhancers	Dnd41	blood
20	chr2:99351600-99355000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:99351600-99355800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:99351800-99353000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:99351800-99353200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:99351800-99354400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:99351800-99354400	Weak transcription	Thymus	Thymus
26	chr2:99351800-99354600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:99351800-99355200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:99351800-99355200	Weak transcription	Fetal Intestine Small	intestine
29	chr2:99351800-99355400	Enhancers	Primary T cells from cord blood	blood
30	chr2:99351800-99355800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:99351800-99356200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:99351800-99356600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:99351800-99356600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:99351800-99360400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:99351800-99360600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:99352200-99352800	Enhancers	Placenta	Placenta
37	chr2:99352400-99353200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:99352600-99352800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:99352600-99353000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:99352600-99353200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:99352600-99353400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:99352600-99354000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:99352600-99355200	Enhancers	Small Intestine	intestine

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