Variant report

Variant	rs6467153
Chromosome Location	chr7:127466490-127466491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127461642..127463502-chr7:127465709..127469347,4	K562	blood:
2	chr7:127465782..127468789-chr7:127470154..127473836,3	MCF-7	breast:
3	chr7:127465972..127469010-chr7:127469751..127472262,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10274574	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1419968	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs1978495	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2043981	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2402868	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3757764	0.82[CHB][hapmap]
rs3779526	0.82[ASW][hapmap]
rs3808077	0.90[YRI][hapmap]
rs3808089	0.88[CHB][hapmap]
rs3824001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473953	0.88[CHB][hapmap]
rs6467140	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6467148	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6943219	0.83[ASW][hapmap];0.88[CHB][hapmap]
rs6943385	0.88[CHB][hapmap]
rs6947779	0.87[AFR][1000 genomes]
rs6953134	0.83[ASW][hapmap];0.88[CHB][hapmap]
rs6970024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976887	0.90[AFR][1000 genomes]
rs6978335	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979634	0.88[CHB][hapmap]
rs7778413	0.83[ASW][hapmap];0.88[CHB][hapmap]
rs7781189	0.88[CHB][hapmap]
rs7783102	0.88[CHB][hapmap]
rs7784200	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7786786	0.83[ASW][hapmap];0.88[CHB][hapmap]
rs806176	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[TSI][hapmap]
rs806178	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[TSI][hapmap]
rs806179	0.82[CHB][hapmap]
rs806187	0.86[CEU][hapmap];0.88[CHB][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers 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 lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127449800-127469200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:127450800-127471200	Weak transcription	Dnd41	blood
7	chr7:127456400-127469000	Weak transcription	Left Ventricle	heart
8	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
9	chr7:127456600-127469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:127457000-127497800	Weak transcription	Gastric	stomach
12	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:127461000-127469200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
18	chr7:127461400-127471400	Weak transcription	Right Atrium	heart
19	chr7:127461400-127473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:127461400-127476800	Weak transcription	HSMM	muscle
23	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
24	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:127461400-127477400	Weak transcription	NH-A	brain
27	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127461600-127470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:127461600-127473400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:127461600-127473800	Weak transcription	NHDF-Ad	bronchial
31	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
32	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:127463400-127468800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:127463400-127474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
37	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
38	chr7:127463600-127468800	Weak transcription	Primary B cells from cord blood	blood
39	chr7:127463600-127469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:127463600-127469000	Weak transcription	Pancreas	Pancrea
41	chr7:127463600-127472600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:127463600-127473200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:127463600-127474400	Weak transcription	Spleen	Spleen
44	chr7:127463600-127477600	Weak transcription	HMEC	breast
45	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
46	chr7:127463800-127468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:127463800-127469000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:127463800-127471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:127463800-127472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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