Variant report

Variant	rs10495945
Chromosome Location	chr2:47751239-47751240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47746690..47748585-chr2:47750437..47753356,2	MCF-7	breast:
2	chr2:47750662..47752920-chr2:47755355..47758272,2	K562	blood:
3	chr2:47750662..47752850-chr2:47755355..47757377,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10175972	0.82[ASN][1000 genomes]
rs10197011	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10206575	0.81[ASN][1000 genomes]
rs10206782	0.82[ASN][1000 genomes]
rs10209369	0.83[CHB][hapmap]
rs11684661	0.83[AMR][1000 genomes]
rs11886591	0.82[CEU][hapmap];0.89[CHB][hapmap]
rs11896864	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11901645	0.87[ASN][1000 genomes]
rs12712994	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12991125	0.83[ASN][1000 genomes]
rs13031342	0.82[ASN][1000 genomes]
rs17502941	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2059520	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2278139	0.85[ASN][1000 genomes]
rs2303424	0.93[ASN][1000 genomes]
rs3771274	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs3771280	0.90[CHB][hapmap]
rs4550716	0.82[CHB][hapmap]
rs4583514	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6544990	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap]
rs6711675	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs6718364	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6724382	0.81[EUR][1000 genomes]
rs6744097	0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs6746426	0.91[ASN][1000 genomes]
rs6759990	0.83[CHB][hapmap]
rs748780	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7585174	0.82[ASN][1000 genomes]
rs7599880	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7601062	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7606984	0.85[ASN][1000 genomes]
rs876936	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs876937	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs879722	0.93[ASN][1000 genomes]
rs9784092	0.87[AMR][1000 genomes];0.94[ASN][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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47744800-47752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:47747800-47755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47748800-47755200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:47748800-47755600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:47748800-47757200	Weak transcription	Right Atrium	heart
7	chr2:47748800-47761000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:47748800-47772800	Weak transcription	Gastric	stomach
9	chr2:47749000-47752400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:47749000-47752400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:47749000-47755000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:47749000-47761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:47749000-47771000	Weak transcription	Ovary	ovary
14	chr2:47749200-47761000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:47749200-47762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:47749400-47754800	Weak transcription	Fetal Brain Female	brain
17	chr2:47749400-47760000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47749400-47760600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:47749800-47754000	Weak transcription	Thymus	Thymus

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