Variant report

Variant	rs7229150
Chromosome Location	chr18:9397172-9397173
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	chr18:9393548..9395841-chr18:9396684..9399360,2	K562	blood:
2	chr18:9396886..9398786-chr18:9399883..9402900,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11081472	1.00[ASW][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap]
rs11875065	1.00[ASW][hapmap];0.85[GIH][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12456325	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12457923	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12458365	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16954989	1.00[ASW][hapmap];0.85[GIH][hapmap];0.97[LWK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16954996	1.00[ASW][hapmap];0.85[GIH][hapmap];0.86[LWK][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34741369	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4343349	0.89[EUR][1000 genomes]
rs4503865	0.91[EUR][1000 genomes]
rs4797368	0.90[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs55637024	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56124420	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56349417	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57333366	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57456386	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087465	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62087466	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62087468	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62087472	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62087494	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6506656	0.85[ASW][hapmap]
rs6506663	0.91[EUR][1000 genomes]
rs7233757	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7242593	0.83[YRI][hapmap]
rs7243117	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8088103	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8089405	0.86[EUR][1000 genomes]
rs8093378	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8093683	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8093792	0.81[EUR][1000 genomes]
rs8098412	0.86[EUR][1000 genomes]
rs8098532	0.86[EUR][1000 genomes]
rs9676006	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9748497	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9748605	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9962807	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic 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
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7229150	TWSG1	cis	Artery Tibial	GTEx
rs7229150	TWSG1	cis	normal skin	skin_eQTL
rs7229150	TWSG1	cis	Muscle Skeletal	GTEx
rs7229150	TWSG1	cis	multi-tissue	Pritchard
rs7229150	TWSG1	cis	Esophagus Mucosa	GTEx
rs7229150	TWSG1	cis	Thyroid	GTEx
rs7229150	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
3	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
5	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
6	chr18:9368400-9397200	Weak transcription	Placenta	Placenta
7	chr18:9381200-9399400	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:9387200-9403600	Weak transcription	K562	blood
10	chr18:9388200-9402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:9388800-9402600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:9389000-9403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9389400-9405400	Weak transcription	Lung	lung
16	chr18:9390200-9397200	Weak transcription	Small Intestine	intestine
17	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:9391000-9403800	Weak transcription	Gastric	stomach
20	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:9391600-9400200	Weak transcription	NHLF	lung
22	chr18:9392000-9400000	Weak transcription	HUVEC	blood vessel
23	chr18:9392000-9401200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:9392000-9403800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr18:9392200-9397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:9392200-9398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:9392200-9401000	Weak transcription	Brain Substantia Nigra	brain
28	chr18:9392200-9401200	Weak transcription	Fetal Intestine Large	intestine
29	chr18:9392200-9403400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
31	chr18:9392400-9398600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:9392400-9400400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:9392600-9398800	Weak transcription	Fetal Heart	heart
36	chr18:9392600-9400200	Weak transcription	Brain Angular Gyrus	brain
37	chr18:9392800-9401200	Weak transcription	Dnd41	blood
38	chr18:9392800-9402600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:9393000-9399800	Weak transcription	Fetal Kidney	kidney
40	chr18:9393000-9401800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:9393200-9397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
44	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
45	chr18:9393800-9399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:9393800-9399600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:9394000-9397600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:9394000-9397800	Strong transcription	HSMM	muscle
49	chr18:9394000-9398400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:9394600-9402200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links