Variant report

Variant	rs73139927
Chromosome Location	chr7:66223584-66223585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66222166..66224180-chr7:66308292..66309931,2	K562	blood:
2	chr7:66220562..66222668-chr7:66223187..66225396,2	K562	blood:

Variant related genes	Relation type
ENSG00000154710	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10950047	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11766583	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666079	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12668022	0.82[ASN][1000 genomes]
rs1267814	0.89[EUR][1000 genomes]
rs13311962	0.89[EUR][1000 genomes]
rs1638724	0.89[EUR][1000 genomes]
rs1638725	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1638728	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1638732	0.86[EUR][1000 genomes]
rs1638735	0.91[EUR][1000 genomes]
rs17747939	0.84[ASN][1000 genomes]
rs1796212	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1796217	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1796218	0.91[EUR][1000 genomes]
rs1796219	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1796222	0.81[EUR][1000 genomes]
rs1796226	0.91[EUR][1000 genomes]
rs1796227	0.91[EUR][1000 genomes]
rs1922722	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052089	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2533282	0.92[EUR][1000 genomes]
rs2533283	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2533284	0.94[EUR][1000 genomes]
rs2707851	0.91[EUR][1000 genomes]
rs28425729	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28817617	0.85[EUR][1000 genomes]
rs2901267	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244862	0.84[ASN][1000 genomes]
rs3800815	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4717322	0.95[ASN][1000 genomes]
rs4718385	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718410	0.95[ASN][1000 genomes]
rs6460311	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6947441	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6966953	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6970767	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974046	0.82[ASN][1000 genomes]
rs6979167	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139974	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73377549	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73377594	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801199	0.89[EUR][1000 genomes]
rs801210	0.89[EUR][1000 genomes]
rs801212	0.89[EUR][1000 genomes]
rs801213	0.89[EUR][1000 genomes]
rs964971	0.88[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs73139927	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs73139927	GS1-124K5.4	cis	Artery Aorta	GTEx
rs73139927	GS1-124K5.4	cis	Stomach	GTEx
rs73139927	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs73139927	RNU6-96P	cis	Thyroid	GTEx
rs73139927	GS1-124K5.11	cis	Thyroid	GTEx
rs73139927	GTF2IRD1P1	cis	Thyroid	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
3	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
5	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
6	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
8	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:66208000-66230600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:66208000-66232400	Weak transcription	Thymus	Thymus
15	chr7:66208000-66236800	Weak transcription	Dnd41	blood
16	chr7:66208000-66238000	Weak transcription	A549	lung
17	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
19	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
20	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
21	chr7:66209400-66239000	Weak transcription	HMEC	breast
22	chr7:66211000-66228600	Weak transcription	Fetal Lung	lung
23	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:66213400-66230600	Weak transcription	NH-A	brain
26	chr7:66214200-66224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:66214200-66224000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:66214200-66225800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:66214200-66234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:66214400-66225000	Weak transcription	Ovary	ovary
31	chr7:66214400-66229600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:66214400-66234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:66214600-66223800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:66214600-66224000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:66214600-66231000	Weak transcription	Left Ventricle	heart
38	chr7:66214600-66234000	Weak transcription	NHLF	lung
39	chr7:66214600-66234200	Weak transcription	Gastric	stomach
40	chr7:66215000-66230600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:66215600-66234200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:66215800-66234200	Weak transcription	NHEK	skin
43	chr7:66216800-66239400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:66220000-66241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:66220800-66223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:66220800-66228400	Weak transcription	Brain Substantia Nigra	brain
47	chr7:66220800-66229600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:66220800-66230800	Weak transcription	Brain Angular Gyrus	brain
49	chr7:66221600-66229800	Weak transcription	Fetal Heart	heart
50	chr7:66221800-66223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links