Variant report

Variant	rs8178242
Chromosome Location	chr8:48695181-48695182
allele	G/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	chr8:48695093-48695186	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:48694801-48695398	K562	blood:	n/a	n/a
3	POLR2A	chr8:48694971-48695243	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:48695114-48695212	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr8:48695174-48695349	K562	blood:	n/a	n/a
6	POLR2A	chr8:48695022-48695181	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:48694439-48695425	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr8:48694316-48695528	K562	blood:	n/a	n/a
9	POLR2A	chr8:48694880-48695283	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:48694772-48695318	K562	blood:	n/a	n/a
11	CTCF	chr8:48695160-48695310	GM12867	blood:	n/a	n/a

Variant related genes	Relation type
PRKDC	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12114231	1.00[AMR][1000 genomes]
rs8178073	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48678400-48700000	Weak transcription	Small Intestine	intestine
2	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:48684200-48695600	Strong transcription	HSMM	muscle
6	chr8:48684200-48701600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:48684200-48704000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:48684400-48698400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr8:48684400-48698600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr8:48684400-48702200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:48684400-48704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:48684400-48861600	Strong transcription	Dnd41	blood
18	chr8:48684600-48696400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:48684600-48698400	Strong transcription	GM12878-XiMat	blood
20	chr8:48684600-48702000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:48685000-48698400	Strong transcription	Liver	Liver
24	chr8:48685000-48713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
26	chr8:48685200-48695200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:48685200-48696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:48685200-48701600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:48685200-48707600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:48685200-48713400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:48685400-48696400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:48685400-48696600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:48685400-48696800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:48685400-48697000	Strong transcription	Fetal Intestine Small	intestine
36	chr8:48685400-48698200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:48685400-48698400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:48685400-48698400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:48685400-48702200	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:48685400-48703400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:48686000-48699000	Strong transcription	Fetal Stomach	stomach
43	chr8:48686200-48698600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:48686200-48699000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:48686600-48698600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:48686800-48696400	Strong transcription	NHEK	skin
47	chr8:48687200-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:48687400-48719800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:48688200-48698400	Strong transcription	Primary T cells from cord blood	blood
50	chr8:48688200-48701200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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