Variant report

Variant	rs7571401
Chromosome Location	chr2:33380895-33380896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33372580..33375286-chr2:33379288..33381912,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10205739	0.86[CEU][hapmap];0.90[YRI][hapmap]
rs10432657	0.90[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10495783	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124309	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[YRI][hapmap]
rs11676681	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11681694	0.85[CEU][hapmap];0.90[YRI][hapmap]
rs12611532	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs1377946	0.92[CEU][hapmap]
rs1377947	0.93[CEU][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs17565877	0.80[CEU][hapmap]
rs17640469	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17641115	0.93[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1869542	0.92[CEU][hapmap];0.93[YRI][hapmap]
rs1902049	0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2061026	0.87[YRI][hapmap]
rs2290449	0.89[CEU][hapmap];0.88[YRI][hapmap]
rs2367624	0.93[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs4542826	0.92[CEU][hapmap];0.87[CHB][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4670184	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670225	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670307	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs4670857	0.83[CHB][hapmap];0.89[YRI][hapmap]
rs4670860	0.87[YRI][hapmap]
rs4671016	0.89[CEU][hapmap]
rs62146704	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6543689	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6543690	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6543691	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707911	0.92[CEU][hapmap];0.87[CHB][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6707962	0.87[CHB][hapmap];0.89[YRI][hapmap]
rs6708836	0.92[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6712473	0.87[CHB][hapmap];0.89[YRI][hapmap]
rs6720185	0.81[CHB][hapmap];0.87[YRI][hapmap]
rs6728094	0.89[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6739323	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743685	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs6751657	0.82[CHB][hapmap];0.89[YRI][hapmap]
rs7423390	0.86[CEU][hapmap];0.93[YRI][hapmap]
rs9308931	0.93[CEU][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs961239	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964702	0.93[CEU][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs964703	0.86[YRI][hapmap]
rs996102	0.85[CEU][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
2	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel
3	chr2:33367200-33384000	Weak transcription	K562	blood
4	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
5	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
6	chr2:33371600-33382400	Weak transcription	Fetal Kidney	kidney
7	chr2:33371600-33383800	Weak transcription	HSMMtube	muscle
8	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
9	chr2:33371800-33382800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:33373200-33382800	Weak transcription	Left Ventricle	heart
11	chr2:33373800-33382000	Weak transcription	Fetal Heart	heart
12	chr2:33374000-33384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:33378200-33382800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33378400-33383200	Weak transcription	HSMM	muscle
16	chr2:33378600-33384000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:33379000-33381200	Weak transcription	Aorta	Aorta
18	chr2:33379000-33381400	Weak transcription	NH-A	brain
19	chr2:33379200-33382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:33379200-33383400	Weak transcription	Ovary	ovary
21	chr2:33379400-33381000	Weak transcription	Osteobl	bone
22	chr2:33379400-33382200	Weak transcription	NHDF-Ad	bronchial
23	chr2:33379600-33381200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:33379600-33382200	Weak transcription	NHLF	lung
25	chr2:33379600-33382400	Weak transcription	NHEK	skin
26	chr2:33379600-33383400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:33379600-33383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:33379600-33383400	Weak transcription	HMEC	breast
29	chr2:33379800-33382000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:33379800-33382000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:33379800-33382400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:33380000-33381200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33380000-33382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:33380000-33382600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:33380600-33381600	Strong transcription	Muscle Satellite Cultured Cells	--

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