Variant report

Variant	rs73040495
Chromosome Location	chr2:189341078-189341079
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12615395	0.89[AFR][1000 genomes]
rs73036454	1.00[AMR][1000 genomes]
rs73040414	1.00[AMR][1000 genomes]
rs73040470	1.00[AMR][1000 genomes]
rs73040474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040477	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040488	1.00[AMR][1000 genomes]
rs73042403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042416	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042422	0.89[AFR][1000 genomes];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	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189330600-189346800	Weak transcription	Gastric	stomach
4	chr2:189330600-189356600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:189334600-189367600	Weak transcription	Fetal Lung	lung
6	chr2:189335800-189343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:189336600-189344000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189338600-189360600	Weak transcription	Ovary	ovary
9	chr2:189339000-189341200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:189339000-189341200	Enhancers	HUVEC	blood vessel
11	chr2:189339000-189341600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:189339200-189349400	Weak transcription	Aorta	Aorta
13	chr2:189339400-189342400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:189339400-189342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:189339400-189343200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189340200-189344600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:189340600-189341200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:189340600-189341200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:189340600-189341200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:189340600-189341200	Enhancers	Psoas Muscle	Psoas
21	chr2:189340600-189341200	Enhancers	HSMM	muscle
22	chr2:189340600-189341200	Enhancers	HSMMtube	muscle
23	chr2:189340600-189341200	Enhancers	NH-A	brain
24	chr2:189340600-189341200	Enhancers	NHDF-Ad	bronchial
25	chr2:189340600-189341200	Enhancers	NHLF	lung
26	chr2:189340600-189341200	Enhancers	Osteobl	bone
27	chr2:189340600-189343800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:189340800-189341200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:189340800-189341200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:189340800-189341200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189340800-189341800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:189340800-189342000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:189340800-189342000	Enhancers	Fetal Heart	heart
34	chr2:189341000-189341200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:189341000-189341200	Enhancers	Pancreas	Pancrea
36	chr2:189341000-189341200	Enhancers	A549	lung
37	chr2:189341000-189341800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:189341000-189341800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:189341000-189341800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:189341000-189342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:189341000-189342400	Weak transcription	H9 Cell Line	embryonic stem cell

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