Variant report

Variant	rs12995271
Chromosome Location	chr2:209048136-209048137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10192397	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10497896	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10804167	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676550	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11883992	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12373582	0.82[JPT][hapmap]
rs12986551	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12995124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029379	0.81[ASN][1000 genomes]
rs34082227	0.81[ASN][1000 genomes]
rs34575089	1.00[ASN][1000 genomes]
rs35551278	0.81[ASN][1000 genomes]
rs6704765	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6705133	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6710217	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6710543	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6725512	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749281	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6751157	1.00[JPT][hapmap]
rs6751646	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67989853	0.81[ASN][1000 genomes]
rs71418664	0.81[ASN][1000 genomes]
rs71418665	0.81[ASN][1000 genomes]
rs7572263	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7579275	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7579623	0.81[ASN][1000 genomes]
rs7583625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646836	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv584298	chr2:209021232-209052303	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv869592	chr2:209029861-209060862	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv584300	chr2:209033557-209054928	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2763083	chr2:209033581-209058397	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv584301	chr2:209034715-209054928	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209038000-209048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:209040800-209048200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:209040800-209048200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:209040800-209048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:209040800-209048400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:209044200-209051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:209044400-209048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:209044400-209048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:209044600-209048400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:209044800-209048200	Weak transcription	HepG2	liver
12	chr2:209046800-209048400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:209047400-209048200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:209047400-209048400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:209047600-209048200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:209047600-209048200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:209047600-209048400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:209047600-209048400	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:209047600-209049000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:209047600-209049200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:209047800-209048200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:209047800-209048200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:209047800-209048400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:209047800-209048400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:209047800-209048800	Weak transcription	Ovary	ovary
26	chr2:209048000-209048200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:209048000-209048400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:209048000-209048400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:209048000-209048600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:209048000-209049600	Enhancers	Primary monocytes fromperipheralblood	blood

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