Variant report

Variant	rs13252184
Chromosome Location	chr8:116231057-116231058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13267959	1.00[EUR][1000 genomes]
rs13274649	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13274984	0.96[EUR][1000 genomes]
rs13277974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13280123	1.00[EUR][1000 genomes]
rs13280450	0.89[EUR][1000 genomes]
rs13439821	0.86[EUR][1000 genomes]
rs16887143	0.92[EUR][1000 genomes]
rs16887165	0.86[EUR][1000 genomes]
rs16887186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645421	0.86[EUR][1000 genomes]
rs34217298	0.96[EUR][1000 genomes]
rs34552607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35795849	0.92[EUR][1000 genomes]
rs35906055	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4500103	0.92[EUR][1000 genomes]
rs59909738	0.92[EUR][1000 genomes]
rs60776807	1.00[EUR][1000 genomes]
rs61620615	0.92[EUR][1000 genomes]
rs7004888	0.86[EUR][1000 genomes]
rs7012742	0.86[EUR][1000 genomes]
rs71528495	0.89[EUR][1000 genomes]
rs71528498	1.00[EUR][1000 genomes]
rs71528499	0.92[EUR][1000 genomes]
rs71528500	0.86[EUR][1000 genomes]
rs71528501	0.92[EUR][1000 genomes]
rs73703186	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7822851	0.92[EUR][1000 genomes]
rs7824433	0.86[EUR][1000 genomes]
rs931558	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv891399	chr8:116037798-116295809	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv891400	chr8:116139213-116373329	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831431	chr8:116209344-116402304	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1024074	chr8:116211511-116387442	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116215400-116231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:116230000-116232000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr8:116230200-116231400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr8:116230200-116231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:116230200-116232000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:116230200-116232000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:116230200-116232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:116230200-116232400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:116230200-116232800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:116230200-116233400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:116230200-116236000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:116230400-116231400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:116230400-116231600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:116230400-116232600	Enhancers	Dnd41	blood
15	chr8:116230400-116236000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:116230600-116231200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:116230600-116231200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:116230600-116231200	Enhancers	HSMM	muscle
19	chr8:116230600-116231400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:116230600-116231400	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:116230600-116231600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:116230600-116231800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:116230600-116232000	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:116230600-116232000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:116230600-116232000	Enhancers	HMEC	breast
26	chr8:116230600-116232000	Enhancers	NH-A	brain
27	chr8:116230600-116232200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr8:116230600-116232200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:116230600-116232400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:116230600-116233000	Enhancers	Primary T cells from cord blood	blood
31	chr8:116230600-116235600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:116230600-116236000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:116230800-116231200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:116230800-116231200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:116230800-116231200	Enhancers	Thymus	Thymus
36	chr8:116230800-116231600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:116230800-116231600	Enhancers	Brain Substantia Nigra	brain
38	chr8:116230800-116231800	Enhancers	HSMMtube	muscle
39	chr8:116230800-116232000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:116230800-116232000	Enhancers	Osteobl	bone
41	chr8:116231000-116231200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:116231000-116231200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:116231000-116231200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:116231000-116231200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:116231000-116231200	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:116231000-116231400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:116231000-116231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:116231000-116231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:116231000-116231600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:116231000-116231600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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