Variant report

Variant	rs72646396
Chromosome Location	chr8:48696105-48696106
allele	A/C
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	chr8:48695997-48696341	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PRKDC	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10097508	0.82[EUR][1000 genomes]
rs10109158	0.86[EUR][1000 genomes]
rs12679087	1.00[AFR][1000 genomes]
rs17334535	1.00[AFR][1000 genomes]
rs28485144	0.80[EUR][1000 genomes]
rs28795698	0.85[EUR][1000 genomes]
rs28809491	0.85[EUR][1000 genomes]
rs3614	0.80[EUR][1000 genomes]
rs4873728	0.89[EUR][1000 genomes]
rs4873737	0.80[EUR][1000 genomes]
rs6995756	0.90[EUR][1000 genomes]
rs7014544	0.80[EUR][1000 genomes]
rs7016660	0.90[EUR][1000 genomes]
rs7017622	0.85[EUR][1000 genomes]
rs72646401	0.83[EUR][1000 genomes]
rs72647906	0.82[EUR][1000 genomes]
rs72647908	0.81[EUR][1000 genomes]
rs72647913	1.00[AFR][1000 genomes]
rs72647914	1.00[AFR][1000 genomes]
rs7813617	0.85[EUR][1000 genomes]
rs7818445	0.87[EUR][1000 genomes]
rs7828380	0.90[EUR][1000 genomes]
rs7830350	0.85[EUR][1000 genomes]
rs7830633	0.85[EUR][1000 genomes]
rs7830743	0.97[EUR][1000 genomes]
rs7831196	0.81[EUR][1000 genomes]
rs7832898	0.90[EUR][1000 genomes]
rs7838910	0.90[EUR][1000 genomes]
rs7839161	0.85[EUR][1000 genomes]
rs7841661	0.81[EUR][1000 genomes]
rs8178097	1.00[AFR][1000 genomes]
rs8178158	0.87[EUR][1000 genomes]
rs8178169	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8178238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8178255	0.87[EUR][1000 genomes]
rs8178258	0.87[EUR][1000 genomes]
rs9918758	0.85[EUR][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	chr8:48684200-48701600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:48684200-48704000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:48684400-48698400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:48684400-48698600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr8:48684400-48702200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:48684400-48704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:48684400-48861600	Strong transcription	Dnd41	blood
17	chr8:48684600-48696400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:48684600-48698400	Strong transcription	GM12878-XiMat	blood
19	chr8:48684600-48702000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:48685000-48698400	Strong transcription	Liver	Liver
23	chr8:48685000-48713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
25	chr8:48685200-48696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:48685200-48701600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:48685200-48707600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:48685200-48713400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:48685400-48696400	Strong transcription	Fetal Intestine Large	intestine
31	chr8:48685400-48696600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:48685400-48696800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:48685400-48697000	Strong transcription	Fetal Intestine Small	intestine
34	chr8:48685400-48698200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:48685400-48698400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:48685400-48698400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:48685400-48702200	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:48685400-48703400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:48686000-48699000	Strong transcription	Fetal Stomach	stomach
41	chr8:48686200-48698600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:48686200-48699000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:48686600-48698600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:48686800-48696400	Strong transcription	NHEK	skin
45	chr8:48687200-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:48687400-48719800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:48688200-48698400	Strong transcription	Primary T cells from cord blood	blood
48	chr8:48688200-48701200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:48688400-48696600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr8:48688400-48697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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