Variant report

Variant	rs745689
Chromosome Location	chr10:43630564-43630565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43630562-43630570	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43628229..43631373-chr10:43632666..43635838,4	K562	blood:
2	chr10:43628655..43631472-chr10:43631665..43635303,8	MCF-7	breast:
3	chr10:43629065..43631893-chr10:43754557..43757372,3	MCF-7	breast:
4	chr10:43604834..43606698-chr10:43629827..43631473,2	MCF-7	breast:
5	chr10:43626673..43631547-chr10:43631796..43635248,5	K562	blood:

No data

Variant related genes	Relation type
CSGALNACT2	TF binding region
ENSG00000169826	Chromatin interaction
ENSG00000273008	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10899775	0.83[YRI][hapmap]
rs11238442	1.00[AFR][1000 genomes]
rs11238443	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs11238462	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12243788	0.88[AFR][1000 genomes]
rs12244691	0.88[AFR][1000 genomes]
rs12254612	0.89[YRI][hapmap]
rs12257299	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12263074	0.96[AFR][1000 genomes]
rs12266774	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12268127	0.85[YRI][hapmap]
rs6593509	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7073629	0.90[YRI][hapmap]
rs7358114	0.91[YRI][hapmap];0.98[AFR][1000 genomes]
rs7894347	1.00[AFR][1000 genomes]
rs7913867	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046892	chr10:43609488-43636278	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43601400-43632800	Weak transcription	Gastric	stomach
2	chr10:43606400-43632600	Weak transcription	Right Atrium	heart
3	chr10:43617200-43632000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:43617400-43632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:43618000-43632600	Weak transcription	Spleen	Spleen
6	chr10:43622800-43632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43623400-43632600	Weak transcription	Primary B cells from cord blood	blood
8	chr10:43624800-43631600	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:43624800-43632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:43625000-43631600	Weak transcription	Fetal Lung	lung
11	chr10:43625200-43632600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:43625200-43632600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:43625200-43632600	Weak transcription	Thymus	Thymus
14	chr10:43625400-43631600	Weak transcription	NHLF	lung
15	chr10:43625600-43631200	Weak transcription	Osteobl	bone
16	chr10:43625600-43632000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:43625600-43632000	Weak transcription	Fetal Thymus	thymus
18	chr10:43625600-43632000	Weak transcription	HSMM	muscle
19	chr10:43626000-43632400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:43626400-43631800	Weak transcription	NHDF-Ad	bronchial
21	chr10:43626400-43632600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:43626400-43632600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:43626400-43632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:43626600-43632000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:43626600-43632000	Weak transcription	Ovary	ovary
26	chr10:43627000-43632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:43627000-43632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:43627000-43632400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:43627800-43632600	Weak transcription	Fetal Intestine Large	intestine
30	chr10:43628400-43631600	Enhancers	HSMMtube	muscle
31	chr10:43628400-43632000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:43628800-43632600	Enhancers	GM12878-XiMat	blood
33	chr10:43629200-43631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:43629200-43632000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:43629600-43630600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:43629600-43632000	Weak transcription	Placenta	Placenta
37	chr10:43629600-43633000	Weak transcription	Aorta	Aorta
38	chr10:43629800-43631600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr10:43629800-43632000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:43629800-43632400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:43629800-43632600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:43629800-43632600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:43629800-43632600	Weak transcription	Fetal Kidney	kidney
44	chr10:43630200-43632000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:43630400-43630800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:43630400-43632800	Weak transcription	A549	lung

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