Variant report

Variant	rs12203904
Chromosome Location	chr6:167032929-167032930
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	chr6:167027450..167030161-chr6:167032275..167034525,2	MCF-7	breast:
2	chr6:167028450..167030849-chr6:167031302..167033259,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10946178	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12196315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12199983	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12202785	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs12204787	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12215660	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs3778367	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778370	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778372	1.00[CEU][hapmap];0.96[GIH][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3778373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799566	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs3799570	0.94[CEU][hapmap];0.91[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3799571	1.00[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58727224	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60145177	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6456097	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs6456098	0.94[CEU][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs6916042	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6919949	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs6929319	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72503823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873070	1.00[CEU][hapmap];0.85[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873071	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874153	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs916389	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs9356498	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9364864	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs9366034	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs9459701	0.82[EUR][1000 genomes]

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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
3	chr6:167023600-167033200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:167024000-167033600	Weak transcription	Fetal Brain Male	brain
5	chr6:167025400-167034800	Enhancers	Ovary	ovary
6	chr6:167025600-167034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:167026400-167033000	Weak transcription	Fetal Lung	lung
8	chr6:167028200-167035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:167028600-167034600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:167028800-167033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:167028800-167033400	Weak transcription	Stomach Mucosa	stomach
12	chr6:167029200-167033000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:167029200-167033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:167029200-167034400	Weak transcription	Colonic Mucosa	Colon
15	chr6:167029200-167039000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:167029400-167036800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:167029600-167034200	Weak transcription	Brain Substantia Nigra	brain
18	chr6:167029800-167033000	Genic enhancers	Lung	lung
19	chr6:167030200-167033800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:167030400-167033400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:167030400-167033600	Weak transcription	Brain Anterior Caudate	brain
22	chr6:167030600-167033000	Weak transcription	Psoas Muscle	Psoas
23	chr6:167030600-167033800	Weak transcription	Liver	Liver
24	chr6:167031200-167033200	Weak transcription	HUVEC	blood vessel
25	chr6:167031400-167033000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:167031400-167033000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:167031400-167034400	Weak transcription	Fetal Kidney	kidney
28	chr6:167031600-167037200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:167031800-167033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:167031800-167033000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:167031800-167033200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr6:167032200-167034600	Enhancers	HSMMtube	muscle
33	chr6:167032200-167034800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:167032200-167034800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:167032400-167033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:167032400-167033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:167032400-167033400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:167032400-167033400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:167032400-167033800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:167032400-167033800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:167032400-167033800	Enhancers	Right Atrium	heart
42	chr6:167032400-167034200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:167032400-167034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:167032400-167034400	Weak transcription	Spleen	Spleen
45	chr6:167032400-167035000	Enhancers	Fetal Heart	heart
46	chr6:167032600-167033000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:167032600-167033000	Weak transcription	Fetal Brain Female	brain
48	chr6:167032600-167033200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:167032600-167033200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:167032600-167033200	Weak transcription	Adipose Nuclei	Adipose

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