Variant report

Variant	rs10070836
Chromosome Location	chr5:115626763-115626764
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	GATA3	chr5:115626625-115627065	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:115626595-115626841	SH-SY5Y	brain:	n/a	n/a
3	GATA2	chr5:115626705-115626930	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr5:115626629-115627023	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:115626634-115627008	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
COMMD10	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035805	0.97[AFR][1000 genomes]
rs10041456	0.97[AFR][1000 genomes]
rs10057752	0.93[AFR][1000 genomes]
rs10078055	0.97[AFR][1000 genomes]
rs10793797	0.97[AFR][1000 genomes]
rs11241376	0.97[AFR][1000 genomes]
rs11750492	0.94[AFR][1000 genomes]
rs28857515	0.97[AFR][1000 genomes]
rs4244399	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4244401	0.94[AFR][1000 genomes]
rs4312923	0.97[AFR][1000 genomes]
rs4327631	0.97[AFR][1000 genomes]
rs4362979	0.91[AFR][1000 genomes]
rs4476764	0.97[AFR][1000 genomes]
rs4533930	0.97[AFR][1000 genomes]
rs4563665	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4591785	0.85[YRI][hapmap]
rs4610496	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4920907	0.94[AFR][1000 genomes]
rs4921074	0.97[AFR][1000 genomes]
rs4921084	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4921089	0.94[AFR][1000 genomes]
rs6594960	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6885123	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6888628	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6894690	0.83[AFR][1000 genomes]
rs6898928	0.97[AFR][1000 genomes]
rs7720967	0.97[AFR][1000 genomes]
rs7731011	0.94[AFR][1000 genomes]
rs9687467	1.00[YRI][hapmap];0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv34428	chr5:115575513-115626966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2753795	chr5:115576026-115626966	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2755740	chr5:115576139-115633474	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2757134	chr5:115578810-115633474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2759372	chr5:115578810-115633474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2760969	chr5:115583627-115630890	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv34342	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2756234	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv432800	chr5:115596277-115626966	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1028323	chr5:115596277-115627008	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1020633	chr5:115596277-115629523	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1023495	chr5:115596277-115629769	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv2752575	chr5:115596277-115633474	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1018649	chr5:115596350-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1015300	chr5:115597953-115629523	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1028664	chr5:115601522-115630878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv1034438	chr5:115612225-115630878	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:115612800-115633200	Weak transcription	Ovary	ovary
3	chr5:115613400-115628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:115613400-115641600	Weak transcription	HSMM	muscle
5	chr5:115613600-115632000	Weak transcription	Fetal Heart	heart
6	chr5:115613600-115633000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:115624200-115631800	Weak transcription	Liver	Liver
8	chr5:115624400-115627000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:115624400-115627800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:115624400-115631800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:115624400-115633200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:115624400-115633600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:115624600-115627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:115624600-115627800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:115624600-115627800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:115624600-115628200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:115624800-115628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:115624800-115628000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:115625000-115628000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:115625400-115627800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:115625600-115627400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:115625600-115628000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:115625600-115628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:115625600-115632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:115625600-115633200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:115625600-115633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:115625600-115633200	Weak transcription	Psoas Muscle	Psoas
28	chr5:115625600-115633600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:115625600-115633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:115625600-115634000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:115625600-115639200	Weak transcription	Fetal Stomach	stomach
32	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:115625800-115628000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:115625800-115630800	Weak transcription	Fetal Intestine Large	intestine
35	chr5:115625800-115631000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:115626000-115633200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:115626000-115633200	Weak transcription	Left Ventricle	heart
38	chr5:115626200-115627000	Enhancers	Fetal Lung	lung
39	chr5:115626200-115632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:115626400-115627800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:115626400-115628000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:115626400-115628400	Enhancers	Fetal Kidney	kidney
43	chr5:115626400-115633400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:115626400-115633800	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:115626600-115626800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr5:115626600-115627800	Weak transcription	Primary T cells from cord blood	blood
47	chr5:115626600-115633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain

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