Variant report

Variant	rs4749188
Chromosome Location	chr10:27107498-27107499
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27106510..27108807-chr10:27111727..27113503,2	K562	blood:
2	chr10:27098834..27102498-chr10:27103196..27108040,4	K562	blood:

Variant related genes	Relation type
ENSG00000136754	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11015256	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11015257	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11015264	0.87[EUR][1000 genomes]
rs11015277	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11015278	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11015282	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015287	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015290	0.88[AMR][1000 genomes]
rs11015297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015303	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015315	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11015316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11814449	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12220354	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12220461	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17816509	0.80[AFR][1000 genomes]
rs17816641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998633	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2148111	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802615	0.91[ASN][1000 genomes]
rs3802616	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4749190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749193	0.83[EUR][1000 genomes]
rs4749194	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7910986	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27085600-27119000	Weak transcription	Fetal Lung	lung
2	chr10:27086600-27110400	Weak transcription	Fetal Intestine Large	intestine
3	chr10:27091800-27113200	Weak transcription	Placenta	Placenta
4	chr10:27093400-27112400	Weak transcription	Left Ventricle	heart
5	chr10:27094000-27108000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:27094600-27108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:27094600-27111200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:27094800-27108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:27094800-27111200	Weak transcription	Ovary	ovary
10	chr10:27095000-27130600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:27095000-27138600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:27095200-27110800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:27095200-27119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:27095400-27110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:27095400-27111200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:27095400-27113000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:27095400-27116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:27095400-27129800	Weak transcription	NHEK	skin
19	chr10:27095600-27107800	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:27095600-27109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:27095600-27111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:27095600-27114600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr10:27095600-27115400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:27095600-27129000	Weak transcription	Right Atrium	heart
25	chr10:27095600-27132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:27095600-27148800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:27095800-27113400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:27096800-27108200	Weak transcription	Brain Substantia Nigra	brain
29	chr10:27096800-27108200	Weak transcription	Fetal Thymus	thymus
30	chr10:27096800-27110800	Weak transcription	Dnd41	blood
31	chr10:27096800-27112400	Weak transcription	Gastric	stomach
32	chr10:27097200-27120000	Weak transcription	HepG2	liver
33	chr10:27097400-27108800	Weak transcription	Primary T cells from cord blood	blood
34	chr10:27097600-27109800	Weak transcription	Fetal Stomach	stomach
35	chr10:27097800-27110400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:27099000-27113800	Weak transcription	Fetal Brain Female	brain
37	chr10:27099200-27107800	Weak transcription	Brain Anterior Caudate	brain
38	chr10:27099200-27108800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr10:27099800-27128800	Weak transcription	K562	blood
40	chr10:27101000-27108800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr10:27101800-27129000	Weak transcription	Stomach Mucosa	stomach
42	chr10:27103200-27107800	Weak transcription	Primary B cells from cord blood	blood
43	chr10:27104000-27108800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:27104000-27109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:27104400-27110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:27104800-27119200	Weak transcription	Esophagus	oesophagus
47	chr10:27104800-27129200	Weak transcription	Colonic Mucosa	Colon
48	chr10:27105000-27112400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:27105000-27122000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:27105200-27111200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links