Variant report

Variant	rs11695605
Chromosome Location	chr2:134250805-134250806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:134248954..134251953-chr4:6675322..6677333,2	MCF-7	breast:
2	chr2:134250271..134251246-chr2:134262119..134262954,2	MCF-7	breast:
3	chr2:134250274..134251222-chr2:134262111..134262982,5	MCF-7	breast:
4	chr2:134200313..134200915-chr2:134250302..134251048,2	MCF-7	breast:
5	chr2:134088967..134089889-chr2:134250249..134251166,2	MCF-7	breast:
6	chr2:134250533..134253276-chr2:134255115..134256615,2	MCF-7	breast:
7	chr2:134250215..134251119-chr2:134262111..134263140,7	MCF-7	breast:
8	chr2:134250267..134251079-chr2:134262506..134263278,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251580	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1008125	0.96[CEU][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1017368	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11887480	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11896713	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1836669	0.88[JPT][hapmap]
rs1836671	0.86[CHB][hapmap]
rs1865585	0.96[CEU][hapmap];0.87[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1897429	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163653	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2163654	0.81[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2320935	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2874399	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3910163	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4953883	0.86[CHB][hapmap]
rs4954052	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4954059	0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7559239	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595258	0.96[EUR][1000 genomes];0.91[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134240000-134262400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134244800-134252200	Weak transcription	Fetal Kidney	kidney
3	chr2:134245200-134253000	Weak transcription	Fetal Stomach	stomach
4	chr2:134245400-134251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:134245400-134253000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:134245600-134252800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:134246400-134262400	Weak transcription	Gastric	stomach
8	chr2:134247800-134252200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:134247800-134252800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:134247800-134254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:134248000-134252800	Weak transcription	Adipose Nuclei	Adipose
12	chr2:134248000-134252800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:134248000-134262000	Weak transcription	NHLF	lung
14	chr2:134248200-134252600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:134248200-134256600	Weak transcription	NHEK	skin
16	chr2:134248400-134252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:134248400-134252800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:134248400-134255000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:134249000-134252800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:134249000-134252800	Weak transcription	Fetal Lung	lung
21	chr2:134249000-134252800	Weak transcription	Left Ventricle	heart
22	chr2:134249000-134253000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:134249000-134254400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:134249000-134254600	Weak transcription	NHDF-Ad	bronchial
25	chr2:134249800-134251400	Weak transcription	Right Atrium	heart
26	chr2:134250200-134257200	Enhancers	Fetal Intestine Small	intestine
27	chr2:134250400-134251000	Enhancers	Fetal Heart	heart
28	chr2:134250400-134253200	Enhancers	Stomach Mucosa	stomach
29	chr2:134250400-134255800	Enhancers	Liver	Liver
30	chr2:134250600-134251000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:134250600-134251200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:134250600-134251400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:134250800-134251000	Enhancers	Right Ventricle	heart
34	chr2:134250800-134257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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