Variant report

Variant	rs543791499
Chromosome Location	chr8:67425069-67425070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67424767..67425416-chr8:67625919..67627124,5	MCF-7	breast:
2	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
3	chr8:67424863..67425423-chr8:67446937..67447756,2	MCF-7	breast:
4	chr8:67385971..67387776-chr8:67424804..67426337,2	MCF-7	breast:
5	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
6	chr8:67424749..67427225-chr8:67428836..67431636,2	K562	blood:
7	chr8:67398115..67399973-chr8:67424030..67426495,2	MCF-7	breast:
8	chr8:67424489..67425356-chr8:67521366..67522501,3	MCF-7	breast:
9	chr8:67424694..67427156-chr8:67976156..67978565,3	MCF-7	breast:
10	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
11	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
12	chr8:67424639..67425515-chr8:67626021..67627124,4	MCF-7	breast:
13	chr8:67370581..67378448-chr8:67424626..67427789,7	MCF-7	breast:
14	chr8:67424323..67425873-chr8:67625321..67626734,5	MCF-7	breast:
15	chr8:67424716..67425333-chr8:67434436..67435290,5	MCF-7	breast:
16	chr8:67424158..67425815-chr8:67434087..67435662,5	MCF-7	breast:
17	chr8:67424552..67425654-chr8:67434384..67435380,10	MCF-7	breast:
18	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
19	chr8:67424259..67425739-chr8:67434384..67435598,12	MCF-7	breast:
20	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
21	chr8:67424243..67425486-chr8:67521356..67522211,7	MCF-7	breast:
22	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67420000-67427600	Weak transcription	Liver	Liver
3	chr8:67420600-67425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:67420600-67425600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:67421000-67426000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:67423200-67427200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:67423200-67427800	Enhancers	Fetal Heart	heart
8	chr8:67423400-67425800	Genic enhancers	Brain Cingulate Gyrus	brain
9	chr8:67423600-67425400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:67423600-67426000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:67423800-67425800	Enhancers	Brain Hippocampus Middle	brain
13	chr8:67423800-67426200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:67423800-67426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:67423800-67426600	Enhancers	HSMM	muscle
16	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:67424000-67426600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:67424200-67425400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:67424200-67425400	Enhancers	HMEC	breast
20	chr8:67424200-67425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:67424400-67425200	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:67424400-67425200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:67424400-67425200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:67424400-67425200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr8:67424400-67425200	Enhancers	Spleen	Spleen
26	chr8:67424400-67425200	Flanking Active TSS	Hela-S3	cervix
27	chr8:67424400-67425200	Enhancers	NHEK	skin
28	chr8:67424400-67425400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:67424400-67425400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:67424400-67425400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:67424400-67425400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:67424400-67425400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:67424400-67425400	Enhancers	Ovary	ovary
34	chr8:67424400-67425400	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:67424400-67425400	Flanking Active TSS	HepG2	liver
36	chr8:67424400-67425400	Enhancers	HUVEC	blood vessel
37	chr8:67424400-67425400	Enhancers	NHLF	lung
38	chr8:67424400-67425600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:67424400-67425600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:67424400-67425600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr8:67424400-67425600	Enhancers	Left Ventricle	heart
42	chr8:67424400-67425800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:67424400-67425800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:67424400-67425800	Enhancers	Pancreas	Pancrea
45	chr8:67424400-67425800	Enhancers	NHDF-Ad	bronchial
46	chr8:67424400-67426000	Enhancers	Right Ventricle	heart
47	chr8:67424400-67426000	Enhancers	GM12878-XiMat	blood
48	chr8:67424400-67426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:67424400-67426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:67424400-67426600	Enhancers	Primary T cells fromperipheralblood	blood

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