Variant report

Variant	rs916388
Chromosome Location	chr6:167030062-167030063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167019640..167022664-chr6:167027634..167030471,3	K562	blood:
2	chr6:167027450..167030161-chr6:167032275..167034525,2	MCF-7	breast:
3	chr6:167028450..167030849-chr6:167031302..167033259,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16899265	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3829842	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4145431	0.95[CEU][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6923603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs916390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295357	0.80[GIH][hapmap]
rs9348156	0.95[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9356497	0.95[CEU][hapmap]
rs9364861	0.95[CEU][hapmap];0.90[MEX][hapmap]
rs9364862	0.95[CEU][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	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:90 , 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	chr6:167013200-167031000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
4	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:167016800-167030200	Weak transcription	Brain Germinal Matrix	brain
6	chr6:167017200-167032200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:167017400-167030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:167022800-167031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:167023400-167030400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:167023600-167033200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:167023800-167031600	Weak transcription	Fetal Brain Female	brain
12	chr6:167024000-167032400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:167024000-167033600	Weak transcription	Fetal Brain Male	brain
14	chr6:167024200-167032800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:167024800-167030400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:167024800-167031800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:167025200-167030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:167025200-167030200	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:167025200-167030400	Enhancers	Right Atrium	heart
20	chr6:167025200-167030600	Enhancers	Left Ventricle	heart
21	chr6:167025400-167034800	Enhancers	Ovary	ovary
22	chr6:167025600-167031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:167025600-167034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:167025800-167030600	Enhancers	Right Ventricle	heart
25	chr6:167026200-167031800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:167026400-167033000	Weak transcription	Fetal Lung	lung
27	chr6:167027000-167031000	Weak transcription	Fetal Kidney	kidney
28	chr6:167027200-167031800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:167027400-167030600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:167027400-167031200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:167027600-167030200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:167027600-167031200	Enhancers	HUVEC	blood vessel
33	chr6:167027800-167030400	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:167027800-167030600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:167027800-167030600	Enhancers	Brain Angular Gyrus	brain
36	chr6:167028000-167030400	Enhancers	Brain Anterior Caudate	brain
37	chr6:167028000-167030600	Enhancers	Psoas Muscle	Psoas
38	chr6:167028200-167030200	Enhancers	Adipose Nuclei	Adipose
39	chr6:167028200-167030400	Enhancers	Gastric	stomach
40	chr6:167028200-167035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:167028400-167030200	Enhancers	Brain Hippocampus Middle	brain
42	chr6:167028600-167031600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:167028600-167034600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr6:167028800-167031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:167028800-167032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:167028800-167033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:167028800-167033400	Weak transcription	Stomach Mucosa	stomach
48	chr6:167029000-167031600	Weak transcription	NHEK	skin
49	chr6:167029000-167032200	Weak transcription	HSMMtube	muscle
50	chr6:167029200-167030200	Genic enhancers	Spleen	Spleen

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