Variant report

Variant	rs10168995
Chromosome Location	chr2:47522487-47522488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47403230..47405677-chr2:47521258..47523732,2	MCF-7	breast:
2	chr2:47509605..47513477-chr2:47518467..47523163,4	K562	blood:
3	chr2:47196068..47199021-chr2:47522197..47525047,2	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166026	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166123	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169556	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171003	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471906	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4558636	0.81[CHB][hapmap]
rs6720211	0.90[CHB][hapmap]
rs9789479	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47512200-47523000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:47515000-47527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:47515200-47523400	Enhancers	A549	lung
4	chr2:47515200-47528400	Weak transcription	HepG2	liver
5	chr2:47516600-47525400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:47517600-47524200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47517600-47525200	Weak transcription	NHDF-Ad	bronchial
8	chr2:47517600-47530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:47517800-47526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:47519000-47522600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:47519800-47527200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:47519800-47537200	Weak transcription	Fetal Stomach	stomach
13	chr2:47520200-47534200	Weak transcription	Fetal Brain Female	brain
14	chr2:47520800-47523400	Enhancers	Fetal Intestine Large	intestine
15	chr2:47520800-47540000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:47521000-47523200	Enhancers	Fetal Intestine Small	intestine
17	chr2:47521200-47523400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47521200-47523400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:47521200-47523800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:47521400-47522800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:47521400-47523400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:47521600-47523600	Enhancers	Fetal Kidney	kidney
23	chr2:47521600-47526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:47521800-47527000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:47522000-47523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:47522200-47523000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:47522200-47523200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:47522200-47523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:47522200-47523400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:47522200-47523800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:47522200-47526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:47522200-47527000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:47522400-47523000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:47522400-47523000	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:47522400-47523200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:47522400-47523200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:47522400-47523400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:47522400-47523400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:47522400-47523400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:47522400-47523400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:47522400-47523400	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:47522400-47523400	Enhancers	Brain Hippocampus Middle	brain
43	chr2:47522400-47523600	Enhancers	Brain Angular Gyrus	brain
44	chr2:47522400-47523600	Enhancers	Brain Substantia Nigra	brain

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