Variant report

Variant	rs2175748
Chromosome Location	chr3:111414973-111414974
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111413089..111417299-chr3:111419022..111422240,3	MCF-7	breast:
2	chr3:111413561..111415397-chr3:111433422..111435003,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1533270	1.00[AMR][1000 genomes]
rs2133034	1.00[AMR][1000 genomes]
rs4682053	1.00[AMR][1000 genomes]
rs4682277	1.00[AMR][1000 genomes]
rs59853606	1.00[AMR][1000 genomes]
rs6777041	1.00[AMR][1000 genomes]
rs72939556	1.00[AMR][1000 genomes]
rs72939590	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111406200-111426800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:111409400-111415600	Enhancers	Hela-S3	cervix
3	chr3:111409600-111415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:111410200-111417200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:111410200-111426800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:111410200-111428400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:111410200-111433200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:111410600-111443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:111410800-111418200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:111410800-111419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:111411600-111416200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:111412200-111426800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:111412400-111415200	Enhancers	HSMMtube	muscle
14	chr3:111412400-111415400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:111412400-111426800	Weak transcription	Primary T cells from cord blood	blood
16	chr3:111412400-111426800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:111412600-111415200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:111412600-111415600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:111412600-111415600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:111412800-111430800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:111413000-111415600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:111413000-111415600	Enhancers	NHDF-Ad	bronchial
23	chr3:111413000-111415800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:111413000-111416200	Enhancers	NHEK	skin
25	chr3:111413000-111427000	Weak transcription	Primary B cells from cord blood	blood
26	chr3:111413200-111415200	Enhancers	A549	lung
27	chr3:111413200-111415600	Enhancers	HMEC	breast
28	chr3:111413200-111418200	Weak transcription	GM12878-XiMat	blood
29	chr3:111413400-111415200	Enhancers	HSMM	muscle
30	chr3:111413400-111418400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:111413600-111415200	Enhancers	HUVEC	blood vessel
32	chr3:111413600-111426800	Weak transcription	Fetal Intestine Small	intestine
33	chr3:111413600-111426800	Weak transcription	Fetal Thymus	thymus
34	chr3:111413800-111420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:111413800-111422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:111413800-111427200	Weak transcription	Fetal Intestine Large	intestine
37	chr3:111414000-111415600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr3:111414200-111415000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:111414200-111415000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:111414200-111415200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:111414200-111415600	Enhancers	NHLF	lung
42	chr3:111414400-111415200	Enhancers	Small Intestine	intestine
43	chr3:111414400-111426800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:111414600-111415600	Enhancers	Osteobl	bone
45	chr3:111414800-111415000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:111414800-111415000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:111414800-111415000	Flanking Active TSS	NH-A	brain
48	chr3:111414800-111415200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:111414800-111415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:111414800-111420600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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