Variant report

Variant	rs1377947
Chromosome Location	chr2:33433603-33433604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33433197..33433753-chr2:33495397..33495934,2	MCF-7	breast:
2	chr2:33433433..33434972-chr2:33439448..33441761,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10205739	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10211514	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10432657	0.82[CEU][hapmap]
rs10495783	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10495784	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11124309	0.89[CEU][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681694	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12466553	0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs12476719	0.85[ASN][1000 genomes]
rs12611532	0.85[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1377945	0.82[JPT][hapmap]
rs1377946	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1454376	0.84[ASN][1000 genomes]
rs1454379	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17567417	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs17568051	0.87[JPT][hapmap]
rs17640469	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs17641115	1.00[CEU][hapmap];0.88[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17641180	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs17641906	0.86[CHB][hapmap]
rs17642074	0.86[CHB][hapmap]
rs1869542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061026	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2061027	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs2290448	0.81[CHB][hapmap]
rs2290449	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2367619	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2367620	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2367623	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs2367624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34577456	0.84[ASN][1000 genomes]
rs4542826	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4670184	0.91[EUR][1000 genomes]
rs4670186	0.80[ASN][1000 genomes]
rs4670225	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4670252	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4670307	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670313	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4670660	0.81[ASN][1000 genomes]
rs4670822	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4670833	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4670857	0.81[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4670860	0.86[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4670863	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4671010	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs4671016	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671035	0.83[CHB][hapmap]
rs5006120	0.87[ASN][1000 genomes]
rs5006121	0.82[ASN][1000 genomes]
rs5006122	0.82[ASN][1000 genomes]
rs5006123	0.80[ASN][1000 genomes]
rs5006124	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs5006125	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55911139	0.82[ASN][1000 genomes]
rs55957962	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58774073	0.86[ASN][1000 genomes]
rs58920936	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60000782	0.86[ASN][1000 genomes]
rs60558455	0.86[ASN][1000 genomes]
rs62146679	0.84[ASN][1000 genomes]
rs62146704	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62146726	0.87[ASN][1000 genomes]
rs6543689	0.81[EUR][1000 genomes]
rs6543691	0.96[CEU][hapmap];0.97[YRI][hapmap];0.92[EUR][1000 genomes]
rs6543698	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6543700	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs6705772	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs6707911	1.00[CEU][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707962	0.85[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6708836	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712473	0.85[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6720059	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6720185	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6728094	0.81[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs6736908	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6739323	0.84[EUR][1000 genomes]
rs6743685	0.82[CEU][hapmap]
rs6748806	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6751657	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6759943	0.80[JPT][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7423390	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7571401	0.93[CEU][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs7580348	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs7581446	0.81[ASN][1000 genomes]
rs7584473	0.86[ASN][1000 genomes]
rs9308931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs961239	0.93[CEU][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes]
rs964702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964703	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996102	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996103	0.86[CHB][hapmap];0.86[ASN][1000 genomes]

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	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
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 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	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
5	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
6	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:33415600-33434200	Weak transcription	K562	blood
10	chr2:33418400-33435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:33419000-33434200	Weak transcription	NH-A	brain
12	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
13	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:33426600-33435000	Weak transcription	Gastric	stomach
15	chr2:33428000-33435200	Weak transcription	Ovary	ovary
16	chr2:33428000-33437000	Weak transcription	Liver	Liver
17	chr2:33428600-33434400	Weak transcription	Right Ventricle	heart
18	chr2:33428600-33439200	Weak transcription	Right Atrium	heart
19	chr2:33431200-33436400	Weak transcription	Aorta	Aorta
20	chr2:33431400-33434400	Weak transcription	NHLF	lung
21	chr2:33431800-33436600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:33431800-33439000	Enhancers	NHDF-Ad	bronchial
23	chr2:33432200-33434800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:33432200-33435000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:33432600-33434800	Weak transcription	Fetal Heart	heart
26	chr2:33432600-33435400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:33432600-33436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:33432800-33436400	Weak transcription	HSMMtube	muscle
29	chr2:33433000-33434000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:33433000-33434200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:33433000-33435000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:33433000-33435600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:33433000-33435800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:33433200-33435000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:33433400-33433800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:33433400-33434400	Weak transcription	Osteobl	bone
37	chr2:33433400-33434600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:33433600-33433800	Enhancers	Left Ventricle	heart
39	chr2:33433600-33434000	Enhancers	Lung	lung
40	chr2:33433600-33435200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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