Variant report

Variant	rs711234
Chromosome Location	chr2:33471441-33471442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33272260..33273940-chr2:33470694..33472711,2	MCF-7	breast:
2	chr2:33430736..33432934-chr2:33471410..33474169,2	MCF-7	breast:
3	chr2:33470293..33473165-chr2:33474172..33476840,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10169788	0.91[CHB][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10175557	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10175619	0.83[CHB][hapmap]
rs11124313	1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11673950	1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11684829	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13391131	0.90[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13392154	0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13394195	0.94[YRI][hapmap];0.91[AMR][1000 genomes]
rs17582516	1.00[CHB][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs2603361	1.00[CHB][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769540	0.91[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3769544	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3769545	0.83[CHB][hapmap]
rs4233909	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670387	1.00[CHB][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4670408	0.91[CHB][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes]
rs62148881	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62148882	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62148927	0.81[AMR][1000 genomes]
rs6543704	0.91[CHB][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6543705	0.91[CHB][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs6711027	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6739030	0.91[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6739506	1.00[CHB][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6739725	0.84[AMR][1000 genomes]
rs711235	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723043	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs749454	0.91[CHB][hapmap]
rs7565095	0.87[AMR][1000 genomes]
rs7581438	0.80[JPT][hapmap]
rs7586227	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7590205	0.90[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7605474	0.81[EUR][1000 genomes]
rs817529	0.91[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817532	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs817534	0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817535	0.81[JPT][hapmap]
rs817536	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817537	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817539	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs971793	0.91[CHB][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[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	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:33464200-33471800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:33465000-33471600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
8	chr2:33467800-33474000	Weak transcription	Fetal Heart	heart
9	chr2:33467800-33475600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:33468200-33475800	Weak transcription	Ovary	ovary
11	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:33468600-33475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:33468600-33475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:33468600-33477000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:33468800-33475400	Weak transcription	NHLF	lung
16	chr2:33469200-33475600	Weak transcription	Fetal Stomach	stomach
17	chr2:33469800-33475800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33469800-33476000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
20	chr2:33470400-33472200	Strong transcription	Osteobl	bone
21	chr2:33470400-33472400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:33470400-33479400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:33470600-33472200	Enhancers	Fetal Kidney	kidney
24	chr2:33470800-33473200	Enhancers	Fetal Lung	lung
25	chr2:33471000-33473200	Strong transcription	NH-A	brain
26	chr2:33471200-33471600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:33471200-33471600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:33471200-33480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:33471400-33471800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:33471400-33471800	Genic enhancers	Aorta	Aorta
31	chr2:33471400-33472000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:33471400-33472000	Enhancers	Left Ventricle	heart
33	chr2:33471400-33472000	Enhancers	Psoas Muscle	Psoas
34	chr2:33471400-33472000	Enhancers	A549	lung
35	chr2:33471400-33472200	Enhancers	Adipose Nuclei	Adipose
36	chr2:33471400-33472400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:33471400-33475600	Weak transcription	Fetal Muscle Leg	muscle

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