Variant report

Variant	rs8107121
Chromosome Location	chr19:41280365-41280366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
2	chr19:41268609..41270148-chr19:41279766..41281327,2	K562	blood:
3	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:

Variant related genes	Relation type
ENSG00000261857	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1833610	1.00[AMR][1000 genomes]
rs2233155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399463	1.00[AMR][1000 genomes]
rs4099161	1.00[AMR][1000 genomes]
rs4803365	1.00[AFR][1000 genomes]
rs56048590	1.00[AMR][1000 genomes]
rs56769205	1.00[AMR][1000 genomes]
rs58677507	1.00[AMR][1000 genomes]
rs72549436	1.00[AMR][1000 genomes]
rs7259158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8105594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8111961	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	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
4	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
5	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
6	chr19:41271800-41282600	Weak transcription	HSMM	muscle
7	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:41272000-41280400	Weak transcription	NHEK	skin
9	chr19:41272000-41280600	Weak transcription	NH-A	brain
10	chr19:41272000-41281200	Weak transcription	Osteobl	bone
11	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
14	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
15	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
17	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
18	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
19	chr19:41272200-41280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:41272200-41280800	Weak transcription	Stomach Mucosa	stomach
21	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:41272200-41281200	Weak transcription	K562	blood
24	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
25	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:41272200-41282600	Weak transcription	Dnd41	blood
27	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
28	chr19:41272200-41282600	Weak transcription	NHLF	lung
29	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
36	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:41272200-41282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:41272200-41282800	Weak transcription	Brain Substantia Nigra	brain
39	chr19:41272200-41282800	Weak transcription	Esophagus	oesophagus
40	chr19:41272200-41282800	Weak transcription	Gastric	stomach
41	chr19:41272200-41282800	Weak transcription	Left Ventricle	heart
42	chr19:41272200-41282800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:41272200-41282800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:41272200-41282800	Weak transcription	Hela-S3	cervix
45	chr19:41272200-41283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:41272400-41281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:41272400-41282600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:41272400-41282600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:41272400-41282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:41272400-41282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links