Variant report

Variant	rs13403508
Chromosome Location	chr2:189342602-189342603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189336721..189339436-chr2:189342195..189344064,2	MCF-7	breast:
2	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10185493	1.00[AMR][1000 genomes]
rs10188279	1.00[AMR][1000 genomes]
rs10432433	0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10804022	0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931365	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904835	0.84[YRI][hapmap]
rs13392080	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs13399616	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414813	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs13418323	0.80[YRI][hapmap]
rs13426900	1.00[AMR][1000 genomes]
rs4667230	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667232	0.84[YRI][hapmap]
rs6434282	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434283	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434284	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434287	0.84[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs6710263	1.00[CHD][hapmap]
rs6736780	0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6744742	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6761280	0.84[YRI][hapmap]
rs7423329	1.00[MEX][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs7423378	0.86[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs7579593	1.00[MEX][hapmap]
rs7580259	0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589600	1.00[MEX][hapmap];0.94[MKK][hapmap]
rs7592288	0.84[YRI][hapmap]
rs7593824	0.84[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];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:31 , 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	chr2:189339200-189349400	Weak transcription	Aorta	Aorta
10	chr2:189339400-189343200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:189340200-189344600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:189340600-189343800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:189341200-189343000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:189341200-189343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:189341200-189343600	Weak transcription	Psoas Muscle	Psoas
16	chr2:189341200-189343600	Weak transcription	HUVEC	blood vessel
17	chr2:189341200-189349000	Weak transcription	A549	lung
18	chr2:189341200-189350200	Weak transcription	NHDF-Ad	bronchial
19	chr2:189341200-189358800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189341800-189342800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:189341800-189343800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:189341800-189344000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:189341800-189344000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:189342000-189343400	Weak transcription	Fetal Heart	heart
25	chr2:189342400-189342800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:189342400-189343600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:189342400-189343800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189342400-189343800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:189342400-189344000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:189342400-189344200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:189342600-189344200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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