Variant report

Variant	rs9369047
Chromosome Location	chr6:38290860-38290861
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	chr6:38275306..38278894-chr6:38287022..38290918,3	MCF-7	breast:
2	chr6:38280546..38282066-chr6:38289673..38292016,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10484927	0.89[ASW][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs10484930	0.86[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10484931	0.86[JPT][hapmap]
rs12055513	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12173290	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12524225	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12527432	1.00[ASW][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12529549	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12660323	0.91[CHD][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12664994	0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16890552	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890561	1.00[ASW][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2395697	0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs4711531	0.91[CHD][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs4711532	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4714139	0.91[CHD][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4714141	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4714145	1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[ASN][1000 genomes]
rs57012325	0.91[ASN][1000 genomes]
rs57575973	0.83[ASN][1000 genomes]
rs57934228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59459724	0.83[AFR][1000 genomes]
rs59624393	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60500173	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6917308	0.80[JPT][hapmap]
rs6938840	0.88[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs714930	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73422824	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73422833	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73730927	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73730928	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7771835	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs871182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871184	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296243	1.00[ASW][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs9349065	0.90[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9349069	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9349071	0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9366951	0.84[AMR][1000 genomes]
rs9366952	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9366956	1.00[ASW][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9369045	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9369046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369050	0.87[ASN][1000 genomes]
rs9369052	0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9380728	0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9380729	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9380730	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9380731	0.84[ASN][1000 genomes]
rs9380732	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9380733	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9380734	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9380735	0.84[ASN][1000 genomes]
rs9380736	0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9380738	0.87[GIH][hapmap];1.00[TSI][hapmap]
rs9380744	0.89[ASW][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs9394483	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9394485	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9394487	0.89[ASW][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9394490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394491	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394496	0.89[ASW][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr6:38275400-38301200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:38278000-38310600	Weak transcription	Gastric	stomach
3	chr6:38278200-38295000	Weak transcription	Lung	lung
4	chr6:38278400-38305400	Weak transcription	Pancreas	Pancrea
5	chr6:38282600-38301400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:38283000-38304000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:38284200-38296000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:38284800-38301200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:38286800-38291000	Weak transcription	Psoas Muscle	Psoas
11	chr6:38286800-38295400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:38287400-38301200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:38287600-38301200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:38288000-38291000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:38288000-38291000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:38288000-38291600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:38288000-38292800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:38288000-38305600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:38288800-38291600	Enhancers	Fetal Lung	lung
20	chr6:38289200-38295600	Weak transcription	Fetal Stomach	stomach
21	chr6:38289200-38301000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:38289400-38291200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:38289400-38291800	Weak transcription	Brain Germinal Matrix	brain
24	chr6:38290000-38291000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:38290000-38291000	Enhancers	GM12878-XiMat	blood
26	chr6:38290000-38291200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:38290200-38291000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:38290200-38294200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:38290400-38291600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:38290600-38291200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:38290600-38292400	Enhancers	Fetal Muscle Leg	muscle
32	chr6:38290800-38291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:38290800-38291200	Enhancers	Fetal Brain Male	brain
34	chr6:38290800-38291200	Enhancers	HSMMtube	muscle
35	chr6:38290800-38291400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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