Variant report

Variant	rs9485416
Chromosome Location	chr6:101295145-101295146
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	chr6:101294725..101296598-chr6:101316147..101318633,2	K562	blood:
2	chr6:101271307..101273305-chr6:101294411..101297319,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12183204	0.86[ASN][1000 genomes]
rs1336240	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1336247	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1336248	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1336249	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1472299	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1577618	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1889888	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2172843	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736784	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3736785	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs41285889	0.86[ASN][1000 genomes]
rs41288407	0.86[ASN][1000 genomes]
rs41288409	0.86[ASN][1000 genomes]
rs41288411	0.86[ASN][1000 genomes]
rs41289345	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839788	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840143	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840145	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4840146	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840149	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840152	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59852351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422696	0.86[ASN][1000 genomes]
rs6902414	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6908453	0.86[ASN][1000 genomes]
rs6923187	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6925086	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6932921	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6939613	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73506930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741877	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7751872	0.86[ASN][1000 genomes]
rs7756019	0.86[ASN][1000 genomes]
rs7757823	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7764514	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7765469	0.86[ASN][1000 genomes]
rs7767971	0.86[ASN][1000 genomes]
rs7770430	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7773317	0.86[ASN][1000 genomes]
rs9322169	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9373587	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9377215	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9390683	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9399681	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9399691	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9404014	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9485419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498396	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9498401	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:101233600-101306600	Weak transcription	K562	blood
4	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:101244600-101296200	Weak transcription	NH-A	brain
6	chr6:101249400-101298200	Weak transcription	A549	lung
7	chr6:101252200-101295600	Weak transcription	NHDF-Ad	bronchial
8	chr6:101253400-101295600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:101253400-101295800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
11	chr6:101253800-101295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:101258200-101295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:101264000-101295600	Weak transcription	HepG2	liver
14	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:101271200-101296000	Weak transcription	Ovary	ovary
16	chr6:101271400-101296000	Weak transcription	HSMMtube	muscle
17	chr6:101274600-101295600	Weak transcription	Fetal Thymus	thymus
18	chr6:101275800-101314400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:101276600-101295400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:101277000-101295600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:101277200-101295800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:101277400-101299800	Weak transcription	Esophagus	oesophagus
23	chr6:101277600-101295400	Weak transcription	Placenta	Placenta
24	chr6:101277600-101295600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:101277600-101295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:101277600-101296000	Weak transcription	Fetal Intestine Large	intestine
27	chr6:101277600-101296400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:101277600-101296400	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:101277600-101299600	Weak transcription	Thymus	Thymus
30	chr6:101277600-101299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:101278000-101306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:101278000-101313800	Weak transcription	Fetal Intestine Small	intestine
33	chr6:101278600-101296000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:101279400-101298200	Weak transcription	NHEK	skin
35	chr6:101279600-101295800	Weak transcription	Liver	Liver
36	chr6:101281200-101317000	Weak transcription	Small Intestine	intestine
37	chr6:101281800-101299600	Weak transcription	Fetal Stomach	stomach
38	chr6:101282000-101296200	Weak transcription	Left Ventricle	heart
39	chr6:101282000-101311400	Weak transcription	Aorta	Aorta
40	chr6:101283000-101301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:101284800-101304000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:101285000-101304400	Weak transcription	Brain Substantia Nigra	brain
43	chr6:101285200-101295800	Weak transcription	Adipose Nuclei	Adipose
44	chr6:101285600-101295800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:101285600-101326600	Weak transcription	NHLF	lung
46	chr6:101285800-101295400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:101285800-101295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:101287800-101313000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:101289200-101304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:101289400-101302600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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