Variant report

Variant	rs11993344
Chromosome Location	chr8:63923481-63923482
allele	C/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	POLR2A	chr8:63923387-63923497	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63896894..63899189-chr8:63921841..63923926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240915	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11991808	1.00[EUR][1000 genomes]
rs1378519	1.00[EUR][1000 genomes]
rs1455577	1.00[EUR][1000 genomes]
rs1480117	1.00[EUR][1000 genomes]
rs2353365	1.00[EUR][1000 genomes]
rs2883147	1.00[EUR][1000 genomes]
rs4270960	1.00[EUR][1000 genomes]
rs57145420	1.00[EUR][1000 genomes]
rs57317205	1.00[EUR][1000 genomes]
rs58136897	1.00[EUR][1000 genomes]
rs60595425	1.00[EUR][1000 genomes]
rs61143666	1.00[EUR][1000 genomes]
rs61144659	1.00[EUR][1000 genomes]
rs6472082	1.00[EUR][1000 genomes]
rs6982424	1.00[EUR][1000 genomes]
rs6986007	1.00[EUR][1000 genomes]
rs7000002	1.00[EUR][1000 genomes]
rs7003391	1.00[EUR][1000 genomes]
rs7014890	1.00[EUR][1000 genomes]
rs73254921	1.00[EUR][1000 genomes]
rs73254933	1.00[EUR][1000 genomes]
rs73254954	1.00[EUR][1000 genomes]
rs73266757	1.00[EUR][1000 genomes]
rs73266758	1.00[EUR][1000 genomes]
rs73266781	1.00[EUR][1000 genomes]
rs73268678	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73268679	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73268681	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270521	1.00[EUR][1000 genomes]
rs73270530	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270590	1.00[EUR][1000 genomes]
rs73272416	1.00[EUR][1000 genomes]
rs7823443	1.00[EUR][1000 genomes]
rs7831801	1.00[EUR][1000 genomes]
rs7833923	1.00[EUR][1000 genomes]

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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63919600-63924800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:63919800-63923600	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:63919800-63924800	Enhancers	Fetal Intestine Small	intestine
5	chr8:63920800-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:63921200-63923800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:63921600-63923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:63922000-63923600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr8:63922000-63932000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:63922200-63923600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:63922200-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:63922600-63936600	Weak transcription	HSMM	muscle
14	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
15	chr8:63922800-63923600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr8:63922800-63923800	Enhancers	Fetal Kidney	kidney
17	chr8:63922800-63924000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:63922800-63924600	Weak transcription	Placenta	Placenta
19	chr8:63922800-63925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:63922800-63928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:63922800-63931000	Weak transcription	Thymus	Thymus
22	chr8:63922800-63937600	Weak transcription	Fetal Thymus	thymus
23	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
25	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:63922800-63950000	Weak transcription	HMEC	breast
29	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:63923000-63923600	Enhancers	Adipose Nuclei	Adipose
31	chr8:63923000-63924000	Enhancers	HepG2	liver
32	chr8:63923000-63924200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:63923000-63924200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:63923000-63924800	Enhancers	Fetal Intestine Large	intestine
35	chr8:63923000-63926600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:63923200-63923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:63923200-63923600	Enhancers	Liver	Liver
38	chr8:63923200-63930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:63923400-63923600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:63923400-63923600	Enhancers	Colonic Mucosa	Colon
41	chr8:63923400-63923600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr8:63923400-63923600	Enhancers	Small Intestine	intestine
43	chr8:63923400-63923600	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:63923400-63923800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:63923400-63924200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr8:63923400-63925800	Weak transcription	Brain Germinal Matrix	brain
47	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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