Variant report

Variant	rs3026785
Chromosome Location	chr10:43625686-43625687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43623236..43626129-chr10:43750680..43753451,2	K562	blood:
2	chr10:43623719..43626484-chr10:43632512..43634776,3	K562	blood:
3	chr10:43624629..43626379-chr10:43749891..43752180,2	K562	blood:
4	chr10:43624978..43626803-chr10:43789083..43792063,2	K562	blood:

Variant related genes	Relation type
ENSG00000169826	Chromatin interaction
ENSG00000273008	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11238472	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12244413	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs12570625	0.89[AMR][1000 genomes]
rs1800862	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1955355	0.84[AMR][1000 genomes]
rs3026768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35718664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41298781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41301581	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41301585	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3026785	GALNACT-2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 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	chr10:43606600-43626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:43609800-43626800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:43614800-43626800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:43617200-43632000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:43617400-43632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:43618000-43632600	Weak transcription	Spleen	Spleen
9	chr10:43619600-43625800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:43621800-43629800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr10:43622000-43626400	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:43622600-43626400	Enhancers	NHDF-Ad	bronchial
13	chr10:43622800-43632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:43623200-43626000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:43623400-43632600	Weak transcription	Primary B cells from cord blood	blood
16	chr10:43624000-43626200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:43624200-43627000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:43624200-43627000	Enhancers	NHEK	skin
19	chr10:43624400-43627000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:43624800-43631600	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:43624800-43632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:43625000-43629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:43625000-43631600	Weak transcription	Fetal Lung	lung
24	chr10:43625200-43625800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:43625200-43626000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:43625200-43626200	Weak transcription	Placenta	Placenta
27	chr10:43625200-43627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:43625200-43627600	Enhancers	HSMMtube	muscle
29	chr10:43625200-43632600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr10:43625200-43632600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:43625200-43632600	Weak transcription	Thymus	Thymus
32	chr10:43625400-43625800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr10:43625400-43625800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:43625400-43626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:43625400-43627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:43625400-43628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:43625400-43628800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:43625400-43628800	Weak transcription	GM12878-XiMat	blood
39	chr10:43625400-43629000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:43625400-43631600	Weak transcription	NHLF	lung
41	chr10:43625600-43626000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:43625600-43626400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr10:43625600-43626800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr10:43625600-43631200	Weak transcription	Osteobl	bone
45	chr10:43625600-43632000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:43625600-43632000	Weak transcription	Fetal Thymus	thymus
47	chr10:43625600-43632000	Weak transcription	HSMM	muscle

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