Variant report

Variant	rs17048297
Chromosome Location	chr2:114465475-114465476
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10199515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11123202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11883963	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11899799	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12329244	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12711787	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13401587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13410586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13424899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17048299	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17048352	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17048506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2290109	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60047530	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60893071	1.00[ASN][1000 genomes]
rs60896642	0.89[AFR][1000 genomes]
rs72944699	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946665	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589738	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7600262	0.87[EUR][1000 genomes];1.00[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	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114452400-114470200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:114452600-114469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:114453000-114470400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:114455000-114470400	Weak transcription	NHEK	skin
5	chr2:114455400-114472200	Weak transcription	HMEC	breast
6	chr2:114455600-114470400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:114455800-114470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:114458000-114466400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:114458000-114466600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:114458000-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:114458000-114472000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:114458200-114466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:114458200-114469600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:114458200-114469600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:114458200-114470200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:114458200-114470200	Weak transcription	GM12878-XiMat	blood
17	chr2:114458200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:114458200-114470400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:114458200-114470400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:114458200-114486200	Weak transcription	Dnd41	blood
21	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:114458400-114467200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:114458400-114469400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:114458400-114469400	Weak transcription	Placenta	Placenta
25	chr2:114458400-114469400	Weak transcription	K562	blood
26	chr2:114458400-114470200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:114458400-114470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:114458400-114470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:114458400-114470400	Weak transcription	Fetal Thymus	thymus
30	chr2:114458400-114471800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:114458400-114475000	Weak transcription	Thymus	Thymus
32	chr2:114458400-114484200	Weak transcription	Pancreas	Pancrea
33	chr2:114458400-114497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:114458400-114500000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:114458800-114469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:114460000-114470200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:114460000-114470400	Weak transcription	Fetal Brain Female	brain
38	chr2:114460000-114470400	Weak transcription	NHDF-Ad	bronchial
39	chr2:114460200-114484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:114460600-114469400	Weak transcription	Osteobl	bone
41	chr2:114460600-114470400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:114460800-114470200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:114460800-114475200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:114461000-114470200	Weak transcription	HSMMtube	muscle
45	chr2:114461000-114470400	Weak transcription	NHLF	lung
46	chr2:114461000-114472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:114461200-114470200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:114461200-114470200	Weak transcription	Fetal Kidney	kidney
49	chr2:114461200-114470200	Weak transcription	NH-A	brain
50	chr2:114461200-114473200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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