Variant report

Variant	rs2927461
Chromosome Location	chr19:45245959-45245960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45244086..45247886-chr19:45254876..45256709,3	K562	blood:
2	chr19:45243778..45246172-chr19:45250580..45252564,2	K562	blood:
3	chr19:45226230..45230081-chr19:45243505..45246570,6	MCF-7	breast:
4	chr19:45244778..45247481-chr19:45616190..45618062,2	MCF-7	breast:
5	chr19:45238713..45247485-chr19:45247961..45259019,19	K562	blood:

Variant related genes	Relation type
ENSG00000252200	Chromatin interaction
ENSG00000069399	Chromatin interaction

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

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

rs_ID	r²[population]
rs2927460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2965129	1.00[AMR][1000 genomes]
rs2965172	1.00[AMR][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	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45235400-45250400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:45239800-45246800	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:45240800-45247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:45242000-45246000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:45242000-45248200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr19:45242400-45246000	Weak transcription	Right Ventricle	heart
7	chr19:45242800-45250200	Enhancers	Liver	Liver
8	chr19:45243400-45246000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:45243400-45246800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:45243400-45246800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr19:45243400-45247400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:45243400-45247400	Enhancers	Stomach Mucosa	stomach
13	chr19:45243400-45248400	Enhancers	Colonic Mucosa	Colon
14	chr19:45243400-45250000	Enhancers	Fetal Intestine Small	intestine
15	chr19:45243400-45250200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:45243400-45250400	Enhancers	Fetal Intestine Large	intestine
17	chr19:45243600-45246400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:45243600-45246600	Enhancers	Brain Hippocampus Middle	brain
19	chr19:45243600-45246600	Enhancers	Fetal Muscle Leg	muscle
20	chr19:45243600-45246800	Enhancers	Fetal Thymus	thymus
21	chr19:45243600-45246800	Enhancers	Right Atrium	heart
22	chr19:45243600-45247000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:45243600-45248200	Enhancers	Adipose Nuclei	Adipose
24	chr19:45243600-45248400	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:45243600-45249200	Enhancers	Pancreas	Pancrea
26	chr19:45243600-45250200	Enhancers	Fetal Muscle Trunk	muscle
27	chr19:45243800-45246000	Weak transcription	Spleen	Spleen
28	chr19:45243800-45246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:45243800-45252000	Weak transcription	Gastric	stomach
30	chr19:45244000-45246400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr19:45244000-45249000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr19:45244000-45249800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:45244200-45246600	Enhancers	HMEC	breast
34	chr19:45244200-45247200	Enhancers	Fetal Stomach	stomach
35	chr19:45244200-45250200	Enhancers	Primary B cells from cord blood	blood
36	chr19:45244400-45246400	Enhancers	NHEK	skin
37	chr19:45244600-45246200	Enhancers	Primary B cells from peripheral blood	blood
38	chr19:45244600-45246200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr19:45244600-45246400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr19:45244600-45246400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:45244600-45246400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:45244600-45246400	Enhancers	NH-A	brain
43	chr19:45244600-45246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr19:45244600-45246600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:45244600-45246600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr19:45244600-45246600	Enhancers	NHLF	lung
47	chr19:45244600-45246800	Enhancers	HUVEC	blood vessel
48	chr19:45244600-45247200	Enhancers	NHDF-Ad	bronchial
49	chr19:45244600-45247600	Enhancers	Small Intestine	intestine
50	chr19:45244600-45249200	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links