Variant report

Variant	rs111483248
Chromosome Location	chr8:66938094-66938095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66933795..66936922-chr8:66937756..66943533,5	K562	blood:
2	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
3	chr8:66703420..66705855-chr8:66937536..66939633,2	MCF-7	breast:
4	chr8:66928177..66937337-chr8:66937383..66943347,17	MCF-7	breast:
5	chr8:66934410..66936922-chr8:66937926..66940879,2	K562	blood:
6	chr8:66931688..66936639-chr8:66937276..66942801,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3395265	chr8:66936048-66939146	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66931000-66938800	Weak transcription	Spleen	Spleen
2	chr8:66931600-66938800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:66933800-66938600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:66933800-66944400	Weak transcription	Pancreas	Pancrea
5	chr8:66934000-66943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:66934000-66944400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:66934600-66938800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:66934600-66939200	Weak transcription	Psoas Muscle	Psoas
9	chr8:66934800-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:66934800-66938600	Weak transcription	Thymus	Thymus
11	chr8:66934800-66938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:66934800-66938800	Weak transcription	Esophagus	oesophagus
13	chr8:66934800-66938800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:66934800-66938800	Weak transcription	Gastric	stomach
15	chr8:66934800-66938800	Weak transcription	Right Atrium	heart
16	chr8:66934800-66940800	Weak transcription	Lung	lung
17	chr8:66935000-66938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:66935000-66938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:66935000-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:66935000-66938600	Weak transcription	HMEC	breast
21	chr8:66935000-66938600	Weak transcription	NHEK	skin
22	chr8:66935000-66938800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:66935000-66938800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:66935000-66938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:66935000-66938800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:66935200-66938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:66935400-66938400	Weak transcription	Hela-S3	cervix
28	chr8:66935400-66938600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:66935400-66938800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:66935400-66938800	Weak transcription	Left Ventricle	heart
31	chr8:66935400-66938800	Weak transcription	HepG2	liver
32	chr8:66935400-66945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:66935600-66938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:66935600-66938600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:66935600-66938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:66935600-66938600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:66935600-66938600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:66935600-66938600	Weak transcription	Fetal Thymus	thymus
39	chr8:66935600-66938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:66935600-66938800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:66935600-66938800	Weak transcription	Adipose Nuclei	Adipose
42	chr8:66935600-66938800	Weak transcription	NHDF-Ad	bronchial
43	chr8:66935600-66938800	Weak transcription	NHLF	lung
44	chr8:66935800-66938600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:66935800-66938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:66936200-66938600	Weak transcription	Primary T cells from cord blood	blood
47	chr8:66936200-66938600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:66936200-66938600	Weak transcription	A549	lung
49	chr8:66936200-66938800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:66936200-66941200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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