Variant report

Variant	rs11692723
Chromosome Location	chr2:33467055-33467056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr2:33466823-33467070	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:33466716-33468990	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LTBP1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10167324	0.85[ASN][1000 genomes]
rs10167399	0.85[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10173416	0.95[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10195782	0.85[ASN][1000 genomes]
rs10201015	0.85[ASN][1000 genomes]
rs10201397	0.85[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10205515	0.85[ASN][1000 genomes]
rs10514773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11675702	0.95[ASN][1000 genomes]
rs11686962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11691887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11886337	0.85[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13408945	0.85[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012612	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012615	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17012778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2004437	0.90[ASN][1000 genomes]
rs2290427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769546	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4578839	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4641915	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs55852365	0.90[ASN][1000 genomes]
rs57095191	0.85[ASN][1000 genomes]
rs57119251	0.85[ASN][1000 genomes]
rs60523332	0.85[ASN][1000 genomes]
rs61754245	0.95[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6728561	0.85[ASN][1000 genomes]
rs6730341	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6734291	0.85[ASN][1000 genomes]
rs6752708	0.85[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6757381	0.85[ASN][1000 genomes]
rs6760864	0.95[ASN][1000 genomes]
rs72855746	0.85[ASN][1000 genomes]
rs72855774	0.85[ASN][1000 genomes]
rs72855787	0.85[ASN][1000 genomes]
rs72858037	0.85[ASN][1000 genomes]
rs72858071	0.95[ASN][1000 genomes]
rs72858072	0.95[ASN][1000 genomes]
rs73927364	0.90[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7606937	0.85[ASN][1000 genomes]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs964701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33442600-33467600	Weak transcription	Ovary	ovary
3	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
4	chr2:33447400-33468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:33455800-33470600	Weak transcription	Fetal Kidney	kidney
7	chr2:33461200-33468600	Enhancers	HUVEC	blood vessel
8	chr2:33462200-33467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:33462600-33467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:33463800-33468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:33463800-33471400	Weak transcription	Aorta	Aorta
12	chr2:33464000-33468000	Weak transcription	NHEK	skin
13	chr2:33464200-33467800	Weak transcription	HMEC	breast
14	chr2:33464200-33471800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33464400-33467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:33465000-33471600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:33465600-33467600	Weak transcription	NHLF	lung
18	chr2:33465600-33467800	Weak transcription	NHDF-Ad	bronchial
19	chr2:33466000-33468600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33466200-33467200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33466200-33467400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:33466200-33467800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33466200-33467800	Enhancers	Fetal Heart	heart
24	chr2:33466400-33467600	Weak transcription	A549	lung
25	chr2:33466400-33468400	Enhancers	Osteobl	bone
26	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:33466600-33467200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33466600-33468000	Weak transcription	Lung	lung
29	chr2:33466600-33468800	Enhancers	NH-A	brain
30	chr2:33466600-33471400	Weak transcription	Left Ventricle	heart
31	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:33466800-33467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:33466800-33468600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33466800-33468600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
36	chr2:33467000-33468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:33467000-33469200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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