Variant report

Variant	rs2502547
Chromosome Location	chr6:70490710-70490711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70488028..70491551-chr6:70493595..70496779,4	K562	blood:
2	chr6:70488681..70490886-chr6:70505342..70508224,2	K562	blood:

Variant related genes	Relation type
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16867995	0.82[ASN][1000 genomes]
rs16868038	0.82[ASN][1000 genomes]
rs16868102	0.86[ASN][1000 genomes]
rs16868111	0.91[ASN][1000 genomes]
rs2487420	1.00[AMR][1000 genomes]
rs2502546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2502548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752788	1.00[ASN][1000 genomes]
rs3799108	0.91[ASN][1000 genomes]
rs60397804	0.91[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:107 , 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	chr6:70456600-70491000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:70457200-70494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:70463000-70492400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:70469000-70492000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:70471000-70495200	Weak transcription	Gastric	stomach
12	chr6:70471200-70491000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:70472600-70491800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:70473000-70499000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:70474200-70495000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:70474400-70494200	Weak transcription	Psoas Muscle	Psoas
17	chr6:70477200-70505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:70477600-70501600	Weak transcription	Fetal Kidney	kidney
19	chr6:70477600-70505400	Weak transcription	NHDF-Ad	bronchial
20	chr6:70478400-70505000	Weak transcription	Fetal Brain Male	brain
21	chr6:70478600-70493000	Weak transcription	Colonic Mucosa	Colon
22	chr6:70478800-70498600	Weak transcription	HSMM	muscle
23	chr6:70479200-70492000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:70479600-70500600	Weak transcription	Brain Germinal Matrix	brain
25	chr6:70479800-70506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:70480200-70494200	Weak transcription	Small Intestine	intestine
27	chr6:70480200-70506000	Weak transcription	Lung	lung
28	chr6:70480400-70492000	Weak transcription	Liver	Liver
29	chr6:70481400-70498800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:70481400-70502200	Weak transcription	Spleen	Spleen
31	chr6:70481600-70495000	Weak transcription	Right Ventricle	heart
32	chr6:70481600-70501000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:70481600-70505000	Weak transcription	Aorta	Aorta
34	chr6:70482000-70491800	Weak transcription	K562	blood
35	chr6:70482400-70490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:70483200-70499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:70483200-70500800	Weak transcription	Fetal Brain Female	brain
38	chr6:70483400-70501200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:70484200-70494400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:70484200-70498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:70484200-70505200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:70485200-70492800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:70485600-70498400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:70486200-70492200	Strong transcription	Primary B cells from cord blood	blood
45	chr6:70486400-70490800	Strong transcription	Fetal Thymus	thymus
46	chr6:70486400-70494200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:70486400-70501000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:70486400-70501000	Weak transcription	Brain Angular Gyrus	brain
49	chr6:70486400-70501000	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:70486600-70494200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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