Variant report

Variant	rs11101309
Chromosome Location	chr10:49600391-49600392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49599866..49602810-chr10:49604615..49606169,2	K562	blood:
2	chr10:49597669..49599901-chr10:49599925..49601637,2	K562	blood:
3	chr10:49513543..49515966-chr10:49598483..49600970,2	K562	blood:
4	chr10:49590873..49596805-chr10:49597234..49602162,8	K562	blood:
5	chr10:49597870..49600573-chr10:49685383..49687773,2	K562	blood:
6	chr10:49598612..49601205-chr10:49623829..49626212,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56293364	1.00[AFR][1000 genomes]
rs74130259	1.00[AFR][1000 genomes]
rs74130265	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49593200-49607600	Weak transcription	Fetal Lung	lung
2	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
3	chr10:49596600-49601200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr10:49596800-49600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr10:49596800-49600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr10:49597200-49600600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:49597400-49600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:49597400-49600400	Enhancers	Small Intestine	intestine
9	chr10:49597400-49600400	Enhancers	HMEC	breast
10	chr10:49597600-49600800	Enhancers	HUVEC	blood vessel
11	chr10:49597600-49601200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:49598200-49600400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:49598200-49606400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:49598400-49600400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:49598400-49601200	Enhancers	Primary T cells from cord blood	blood
16	chr10:49598600-49600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
18	chr10:49598800-49600400	Enhancers	NHEK	skin
19	chr10:49598800-49612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:49599000-49600600	Enhancers	HSMM	muscle
21	chr10:49599200-49608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:49599200-49622200	Weak transcription	HepG2	liver
23	chr10:49599400-49600400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:49599400-49600400	Enhancers	Fetal Heart	heart
25	chr10:49599400-49600400	Enhancers	Right Ventricle	heart
26	chr10:49599400-49606400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:49599600-49600400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:49599600-49600400	Enhancers	Gastric	stomach
29	chr10:49599600-49600400	Enhancers	Left Ventricle	heart
30	chr10:49599600-49600400	Enhancers	Psoas Muscle	Psoas
31	chr10:49599600-49600400	Enhancers	Right Atrium	heart
32	chr10:49599800-49600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:49599800-49600400	Enhancers	Ovary	ovary
34	chr10:49599800-49600800	Weak transcription	Brain Angular Gyrus	brain
35	chr10:49599800-49601800	Weak transcription	NHDF-Ad	bronchial
36	chr10:49599800-49606200	Weak transcription	Brain Anterior Caudate	brain
37	chr10:49599800-49606200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:49599800-49606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:49599800-49607200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:49600000-49601600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr10:49600000-49606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:49600000-49607000	Weak transcription	NHLF	lung
44	chr10:49600000-49607400	Weak transcription	Fetal Thymus	thymus
45	chr10:49600000-49612400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr10:49600200-49601200	Enhancers	K562	blood
50	chr10:49600200-49606200	Weak transcription	Brain Substantia Nigra	brain

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