Variant report

Variant	rs970577
Chromosome Location	chr2:73005579-73005580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73005561..73008287-chr2:73013909..73016278,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10204141	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496187	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11126382	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11126386	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11693376	0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11886503	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12614041	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12615163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12615875	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619068	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12619565	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12996406	0.89[YRI][hapmap]
rs13008515	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1532970	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1876488	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1876489	1.00[JPT][hapmap]
rs1876490	1.00[JPT][hapmap]
rs1995734	0.94[YRI][hapmap]
rs2063168	0.89[EUR][1000 genomes]
rs2068410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666345	0.89[ASN][1000 genomes]
rs4597553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852896	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4852897	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852900	0.87[EUR][1000 genomes]
rs55749009	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55802296	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56181835	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56711961	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57264301	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58890506	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59615613	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60584321	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61619102	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546782	0.89[YRI][hapmap]
rs6716335	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6761253	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67919884	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67926386	0.83[AFR][1000 genomes]
rs67927720	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7567893	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7577528	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7586339	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586886	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7588602	0.94[YRI][hapmap]
rs7593084	0.93[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7600718	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7604402	0.85[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7607226	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs970577	CD207	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:72985200-73008400	Weak transcription	Right Atrium	heart
3	chr2:72985200-73015800	Weak transcription	Ovary	ovary
4	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
5	chr2:72990400-73006600	Weak transcription	Fetal Lung	lung
6	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
7	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:72992400-73007600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:72993600-73009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:72999600-73006600	Weak transcription	Left Ventricle	heart
13	chr2:72999800-73022000	Weak transcription	Right Ventricle	heart
14	chr2:73002600-73007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:73002600-73008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:73002600-73011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:73002600-73012800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:73004400-73005600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:73005000-73006000	Enhancers	HepG2	liver
20	chr2:73005000-73007600	Enhancers	HUVEC	blood vessel
21	chr2:73005200-73005600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:73005200-73005800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:73005200-73005800	Flanking Active TSS	A549	lung
24	chr2:73005200-73006200	Enhancers	HMEC	breast
25	chr2:73005200-73008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:73005400-73005800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:73005400-73005800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:73005400-73005800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:73005400-73005800	Enhancers	Brain Anterior Caudate	brain
30	chr2:73005400-73005800	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:73005400-73005800	Enhancers	Stomach Mucosa	stomach
32	chr2:73005400-73005800	Enhancers	Osteobl	bone
33	chr2:73005400-73006000	Enhancers	NHEK	skin
34	chr2:73005400-73006400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:73005400-73006800	Enhancers	Fetal Heart	heart
36	chr2:73005400-73016200	Weak transcription	Colon Smooth Muscle	Colon

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