Variant report

Variant	rs9454892
Chromosome Location	chr6:70494213-70494214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:70488028..70491551-chr6:70493595..70496779,4	K562	blood:
2	chr6:70491992..70496576-chr6:70504929..70507216,4	MCF-7	breast:
3	chr6:70493722..70496441-chr6:70496878..70499426,2	K562	blood:
4	chr6:70479419..70482346-chr6:70493730..70495316,2	K562	blood:
5	chr6:70478026..70480919-chr6:70492815..70495230,2	K562	blood:
6	chr6:70492141..70498273-chr6:70502800..70508075,8	K562	blood:

Variant related genes	Relation type
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10498869	0.86[CEU][hapmap];0.93[EUR][1000 genomes]
rs13437057	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1457498	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16868113	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16868129	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17503698	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs28434733	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799109	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4620077	1.00[ASN][1000 genomes]
rs4707324	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6936974	0.88[EUR][1000 genomes]
rs9294847	0.91[AFR][1000 genomes]
rs9294849	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9446157	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9446159	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9446161	0.88[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9454865	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9454868	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9454873	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9454876	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9454880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9454881	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9454887	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9454889	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9454890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9454893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70431400-70498600	Weak transcription	Ovary	ovary
2	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
3	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:70447800-70498400	Weak transcription	Placenta	Placenta
6	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:70457200-70494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:70471000-70495200	Weak transcription	Gastric	stomach
9	chr6:70473000-70499000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:70474200-70495000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:70477200-70505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:70477600-70501600	Weak transcription	Fetal Kidney	kidney
13	chr6:70477600-70505400	Weak transcription	NHDF-Ad	bronchial
14	chr6:70478400-70505000	Weak transcription	Fetal Brain Male	brain
15	chr6:70478800-70498600	Weak transcription	HSMM	muscle
16	chr6:70479600-70500600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:70479800-70506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:70480200-70506000	Weak transcription	Lung	lung
19	chr6:70481400-70498800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:70481400-70502200	Weak transcription	Spleen	Spleen
21	chr6:70481600-70495000	Weak transcription	Right Ventricle	heart
22	chr6:70481600-70501000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:70481600-70505000	Weak transcription	Aorta	Aorta
24	chr6:70483200-70499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:70483200-70500800	Weak transcription	Fetal Brain Female	brain
26	chr6:70483400-70501200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:70484200-70494400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:70484200-70498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:70484200-70505200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:70485600-70498400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:70486400-70501000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:70486400-70501000	Weak transcription	Brain Angular Gyrus	brain
33	chr6:70486400-70501000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:70486600-70500400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:70486600-70501000	Weak transcription	Brain Anterior Caudate	brain
36	chr6:70486600-70501000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:70486600-70501200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:70487200-70501800	Weak transcription	Thymus	Thymus
39	chr6:70487200-70505200	Weak transcription	NHLF	lung
40	chr6:70487800-70498600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:70488000-70505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:70488600-70498400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:70488600-70501200	Weak transcription	Fetal Lung	lung
44	chr6:70490200-70498600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:70490200-70498600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:70490200-70501800	Weak transcription	Esophagus	oesophagus
47	chr6:70490200-70505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:70490400-70494800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:70490400-70498600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:70490400-70501200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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