Variant report

Variant	rs9390170
Chromosome Location	chr6:144851684-144851685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144846785..144849151-chr6:144850372..144853303,2	K562	blood:
2	chr6:144848573..144853071-chr6:144854031..144858388,6	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12661566	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663647	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664494	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664819	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534442	0.87[JPT][hapmap]
rs1534443	0.87[JPT][hapmap]
rs1534444	0.86[JPT][hapmap]
rs17073972	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs17073995	1.00[MEX][hapmap]
rs1918751	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs1918752	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs1997252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2056744	0.92[MEX][hapmap]
rs2091486	0.95[ASN][1000 genomes]
rs2293536	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811100	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4076068	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896728	0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs6906465	0.87[JPT][hapmap]
rs9321980	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9373415	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap]
rs9376823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376824	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs9376826	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9376828	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9386070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9386071	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386072	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386073	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390172	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9390174	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9390175	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs9390176	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9390178	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9390184	0.83[JPT][hapmap]
rs9399480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9399481	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9403563	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs9403564	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403567	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9403572	0.82[JPT][hapmap]
rs9497009	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815000-144855400	Weak transcription	Psoas Muscle	Psoas
6	chr6:144815200-144881000	Weak transcription	NHEK	skin
7	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:144829800-144854200	Weak transcription	Gastric	stomach
11	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
13	chr6:144831600-144853200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:144831800-144857000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr6:144832200-144856800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
17	chr6:144833800-144857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:144833800-144857200	Strong transcription	Primary T cells from cord blood	blood
19	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:144835000-144856400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
22	chr6:144839600-144855400	Weak transcription	HSMMtube	muscle
23	chr6:144843000-144854800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:144843200-144855800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:144843600-144857200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:144844400-144861400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:144844600-144860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:144845400-144852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:144845400-144853400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:144845400-144853600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:144847000-144855400	Strong transcription	Adipose Nuclei	Adipose
33	chr6:144847200-144854600	Strong transcription	Fetal Thymus	thymus
34	chr6:144847200-144856000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:144847200-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:144847400-144851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:144847600-144856400	Strong transcription	Liver	Liver
38	chr6:144847800-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:144847800-144857200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:144848000-144852800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr6:144848000-144856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:144848600-144852400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:144848800-144853400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:144848800-144853400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:144849000-144856000	Strong transcription	HepG2	liver
46	chr6:144849200-144852400	Enhancers	Fetal Heart	heart
47	chr6:144849200-144853600	Strong transcription	Lung	lung
48	chr6:144849200-144854400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:144849400-144852000	Enhancers	K562	blood
50	chr6:144849400-144852400	Strong transcription	Rectal Mucosa Donor 31	rectum

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