Variant report

Variant	rs4949026
Chromosome Location	chr10:43039766-43039767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43038071..43041790-chr10:43046782..43049075,3	K562	blood:
2	chr10:43037621..43040787-chr10:43042829..43044959,3	K562	blood:
3	chr10:43039662..43041965-chr10:43046880..43049075,3	K562	blood:

Variant related genes	Relation type
ENSG00000234420	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11239747	0.92[CHB][hapmap]
rs11239751	0.82[CHB][hapmap]
rs1147918	0.94[JPT][hapmap]
rs11499099	0.88[CHB][hapmap]
rs11812880	0.84[CHB][hapmap]
rs12265862	0.83[CHB][hapmap]
rs12413418	0.92[CHB][hapmap]
rs12414224	0.91[CHB][hapmap]
rs1255395	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1255396	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs17343443	0.84[CHB][hapmap]
rs1810459	0.83[CHB][hapmap]
rs209394	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550670	chr10:42725663-43089965	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895054	chr10:42761931-43068841	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv466877	chr10:42794125-43066414	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv550683	chr10:42794125-43066414	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv895071	chr10:42864138-43066414	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv895073	chr10:42884169-43066505	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	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
15	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43020400-43047000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:43020600-43047000	Weak transcription	HSMM	muscle
3	chr10:43021600-43047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:43033800-43041400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:43034000-43039800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr10:43034000-43040800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr10:43034600-43041600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr10:43035000-43047400	Weak transcription	Stomach Mucosa	stomach
9	chr10:43035600-43046800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:43035600-43047000	Weak transcription	Fetal Thymus	thymus
11	chr10:43035600-43047000	Weak transcription	Gastric	stomach
12	chr10:43035600-43047000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:43035600-43047000	Weak transcription	Right Ventricle	heart
14	chr10:43035600-43047200	Weak transcription	Colonic Mucosa	Colon
15	chr10:43035800-43047000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:43035800-43047000	Weak transcription	NHDF-Ad	bronchial
17	chr10:43037400-43040600	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr10:43037400-43041000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:43037600-43039800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr10:43037600-43039800	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr10:43037800-43040400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:43037800-43040600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr10:43038200-43039800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:43038200-43040000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:43038200-43043000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:43038200-43047000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:43038400-43039800	ZNF genes & repeats	Aorta	Aorta
28	chr10:43038400-43039800	ZNF genes & repeats	Pancreas	Pancrea
29	chr10:43038400-43040800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:43038400-43046000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:43038600-43039800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr10:43038600-43039800	Strong transcription	Dnd41	blood
33	chr10:43038600-43040200	Strong transcription	Primary B cells from cord blood	blood
34	chr10:43038800-43040400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:43039000-43039800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr10:43039000-43039800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:43039000-43039800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:43039000-43039800	Enhancers	Brain Substantia Nigra	brain
39	chr10:43039000-43040000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr10:43039000-43040800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr10:43039000-43041000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr10:43039000-43041200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr10:43039200-43039800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:43039200-43039800	ZNF genes & repeats	Ovary	ovary
45	chr10:43039200-43040000	Flanking Active TSS	K562	blood
46	chr10:43039400-43039800	ZNF genes & repeats	Left Ventricle	heart
47	chr10:43039400-43040200	Flanking Active TSS	HepG2	liver
48	chr10:43039400-43040600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:43039400-43041400	ZNF genes & repeats	Liver	Liver
50	chr10:43039400-43045600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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