Variant report

Variant	rs363088
Chromosome Location	chr4:3210330-3210331
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3204224..3206144-chr4:3208836..3210457,2	K562	blood:
2	chr4:3209550..3212168-chr4:3442496..3445416,2	MCF-7	breast:
3	chr4:3045756..3048472-chr4:3209114..3211020,2	K562	blood:
4	chr4:3202805..3205724-chr4:3208836..3211288,3	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction
ENSG00000199335	Chromatin interaction
ENSG00000109758	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs110501	0.83[ASN][1000 genomes]
rs16843804	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16843836	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1891701	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2071662	0.80[ASN][1000 genomes]
rs2071703	0.83[ASN][1000 genomes]
rs2269477	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269499	0.86[EUR][1000 genomes]
rs2298967	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298971	0.98[ASN][1000 genomes]
rs28403215	0.90[ASN][1000 genomes]
rs3121419	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3135175	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs362268	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs362271	0.86[EUR][1000 genomes]
rs362272	0.84[EUR][1000 genomes]
rs362273	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs362275	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs362306	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs362309	0.86[ASN][1000 genomes]
rs362312	0.82[ASN][1000 genomes]
rs362319	0.82[ASN][1000 genomes]
rs362331	0.87[ASN][1000 genomes]
rs362336	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs363063	0.86[ASN][1000 genomes]
rs363064	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs363066	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs363092	0.98[ASN][1000 genomes]
rs363096	0.89[ASN][1000 genomes]
rs363099	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3755883	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3775061	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4690011	0.88[ASN][1000 genomes]
rs4690073	0.88[ASN][1000 genomes]
rs4690075	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59613878	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60197694	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61792530	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66684864	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6844859	0.93[ASN][1000 genomes]
rs6855981	0.85[ASN][1000 genomes]
rs73193303	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685686	0.95[ASN][1000 genomes]
rs82332	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs82333	0.83[ASN][1000 genomes]
rs82334	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs916171	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv461164	chr4:3149016-3215835	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv593439	chr4:3149016-3215835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3172400-3238800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3191800-3211600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:3193800-3233000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:3194000-3237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:3194200-3210600	Weak transcription	HMEC	breast
8	chr4:3194200-3212600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:3196000-3242600	Strong transcription	Fetal Intestine Small	intestine
10	chr4:3201400-3238400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:3203800-3211600	Weak transcription	Fetal Heart	heart
12	chr4:3204800-3210800	Weak transcription	Small Intestine	intestine
13	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:3205000-3213600	Weak transcription	Psoas Muscle	Psoas
15	chr4:3205200-3212200	Strong transcription	GM12878-XiMat	blood
16	chr4:3205400-3212600	Strong transcription	Dnd41	blood
17	chr4:3205400-3224800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:3205600-3216600	Weak transcription	Hela-S3	cervix
19	chr4:3205800-3228000	Strong transcription	Left Ventricle	heart
20	chr4:3206000-3210600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:3206000-3220400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:3206000-3234800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:3206000-3244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:3206000-3246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:3206400-3229600	Strong transcription	Fetal Stomach	stomach
26	chr4:3206600-3210400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:3206600-3210600	Weak transcription	Fetal Brain Male	brain
28	chr4:3206800-3221600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:3207200-3229000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:3207600-3211200	Strong transcription	Thymus	Thymus
31	chr4:3207600-3221000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:3207600-3238600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:3207600-3243600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr4:3207600-3244000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:3207600-3244600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:3207600-3245400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:3207600-3246400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:3207800-3210600	Strong transcription	Gastric	stomach
39	chr4:3207800-3212000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:3207800-3212400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:3207800-3212400	Strong transcription	Brain Substantia Nigra	brain
42	chr4:3207800-3212400	Strong transcription	NHLF	lung
43	chr4:3207800-3212600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:3207800-3212600	Strong transcription	Brain Angular Gyrus	brain
45	chr4:3207800-3212600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr4:3207800-3219400	Strong transcription	HSMM	muscle
47	chr4:3207800-3221400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:3207800-3221600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr4:3207800-3221600	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:3207800-3226400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links