Variant report

Variant	rs9446161
Chromosome Location	chr6:70501661-70501662
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr6:70501611-70501890	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:70501287-70501697	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:70499217..70503850-chr6:70504773..70507699,6	K562	blood:
2	chr6:70487633..70489999-chr6:70500582..70503569,2	K562	blood:
3	chr6:70501344..70503895-chr6:70504897..70508195,4	K562	blood:

Variant related genes	Relation type
LMBRD1	TF binding region
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10498869	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs13437057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868113	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16868129	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17503698	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs28434733	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3799109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4707324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4707375	0.97[ASN][1000 genomes]
rs6936974	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9294846	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9294847	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9294849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9446157	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9446159	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454865	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9454868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9454873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9454876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9454880	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9454881	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9454887	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454889	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454890	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454892	0.88[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9454893	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:70477200-70505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:70477600-70505400	Weak transcription	NHDF-Ad	bronchial
4	chr6:70478400-70505000	Weak transcription	Fetal Brain Male	brain
5	chr6:70479800-70506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:70480200-70506000	Weak transcription	Lung	lung
7	chr6:70481400-70502200	Weak transcription	Spleen	Spleen
8	chr6:70481600-70505000	Weak transcription	Aorta	Aorta
9	chr6:70484200-70505200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:70487200-70501800	Weak transcription	Thymus	Thymus
11	chr6:70487200-70505200	Weak transcription	NHLF	lung
12	chr6:70488000-70505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:70490200-70501800	Weak transcription	Esophagus	oesophagus
14	chr6:70490200-70505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:70490400-70505400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:70490800-70503800	Weak transcription	Dnd41	blood
17	chr6:70490800-70505000	Weak transcription	Hela-S3	cervix
18	chr6:70491600-70504600	Weak transcription	HepG2	liver
19	chr6:70492800-70505000	Weak transcription	Primary T cells from cord blood	blood
20	chr6:70494000-70505400	Weak transcription	Fetal Stomach	stomach
21	chr6:70495200-70504000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:70495400-70506000	Weak transcription	Stomach Mucosa	stomach
23	chr6:70495800-70505400	Weak transcription	Pancreas	Pancrea
24	chr6:70496000-70505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:70496000-70506000	Weak transcription	Gastric	stomach
26	chr6:70499000-70505200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:70499200-70505000	Enhancers	Liver	Liver
28	chr6:70499200-70505400	Weak transcription	HSMM	muscle
29	chr6:70499400-70505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:70499400-70505400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:70499600-70503400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:70499800-70501800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:70499800-70502400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:70499800-70502400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:70499800-70502400	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:70499800-70503000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:70500000-70501800	Weak transcription	Ovary	ovary
38	chr6:70500000-70502400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:70500000-70503400	Weak transcription	K562	blood
40	chr6:70500000-70504800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:70500000-70505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:70500000-70505400	Weak transcription	Placenta	Placenta
43	chr6:70500000-70505800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:70500200-70501800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:70500200-70502000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:70500200-70502000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:70500200-70505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:70500400-70502200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:70500400-70502400	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:70500400-70502800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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