Variant report

Variant	rs7175905
Chromosome Location	chr15:41041292-41041293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41040512..41043697-chr15:41186254..41188301,3	K562	blood:
2	chr15:41040356..41042250-chr15:41054911..41056539,3	K562	blood:
3	chr15:41040512..41042278-chr15:41186254..41187937,2	K562	blood:

Variant related genes	Relation type
ENSG00000104142	Chromatin interaction
ENSG00000137880	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12148915	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12442560	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12591044	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12592524	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1801321	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2619682	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34305357	0.85[EUR][1000 genomes]
rs4924492	0.83[EUR][1000 genomes]
rs4924496	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924498	0.82[EUR][1000 genomes]
rs4924502	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5030789	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59244061	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6492964	0.83[EUR][1000 genomes]
rs7176245	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7176590	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7177265	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7180135	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7182499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs957603	0.85[AMR][1000 genomes];0.89[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	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs7175905	RP11-111A22.1	cis	Artery Tibial	GTEx
rs7175905	RAD51	Cis_1M	lymphoblastoid	RTeQTL
rs7175905	C15orf57	cis	Heart Left Ventricle	GTEx
rs7175905	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs7175905	C15orf57	cis	Esophagus Muscularis	GTEx
rs7175905	C15orf57	cis	Esophagus Mucosa	GTEx
rs7175905	C15orf57	cis	Stomach	GTEx
rs7175905	RP11-111A22.1	cis	lung	GTEx
rs7175905	C15orf57	cis	Muscle Skeletal	GTEx
rs7175905	C15orf57	cis	Artery Tibial	GTEx
rs7175905	C15orf57	cis	Artery Aorta	GTEx
rs7175905	C15orf57	cis	Nerve Tibial	GTEx
rs7175905	C15orf57	cis	lung	GTEx
rs7175905	C15orf57	cis	Skin Sun Exposed Lower leg	GTEx
rs7175905	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs7175905	C15orf57	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41008200-41046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41019400-41046200	Strong transcription	Fetal Stomach	stomach
3	chr15:41020000-41043600	Strong transcription	Dnd41	blood
4	chr15:41020800-41045400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:41021800-41044600	Strong transcription	Brain Germinal Matrix	brain
6	chr15:41023200-41045200	Strong transcription	Thymus	Thymus
7	chr15:41023800-41045200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:41025600-41045000	Strong transcription	Primary T cells from cord blood	blood
9	chr15:41025600-41045400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:41026000-41044600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:41026200-41044600	Strong transcription	Lung	lung
12	chr15:41026800-41045200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr15:41029000-41041800	Weak transcription	Fetal Kidney	kidney
14	chr15:41030800-41044000	Weak transcription	Psoas Muscle	Psoas
15	chr15:41031000-41046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:41032000-41043000	Weak transcription	Fetal Brain Male	brain
17	chr15:41032600-41046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:41032600-41046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:41032600-41046600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:41033200-41042000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:41034200-41045800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr15:41034400-41044400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:41034400-41044600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:41034400-41045200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:41034600-41044800	Strong transcription	Brain Substantia Nigra	brain
26	chr15:41034600-41045800	Genic enhancers	Fetal Intestine Small	intestine
27	chr15:41034800-41044400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr15:41034800-41044600	Strong transcription	Fetal Brain Female	brain
29	chr15:41034800-41046200	Genic enhancers	Fetal Intestine Large	intestine
30	chr15:41035800-41046600	Weak transcription	Right Atrium	heart
31	chr15:41036600-41041600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:41036600-41042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:41036600-41042800	Weak transcription	HSMMtube	muscle
34	chr15:41036600-41043000	Weak transcription	HMEC	breast
35	chr15:41036600-41044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr15:41036600-41045200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:41036600-41045400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:41036600-41045800	Weak transcription	NH-A	brain
39	chr15:41036800-41043800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr15:41036800-41044400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:41036800-41046000	Weak transcription	Fetal Heart	heart
42	chr15:41036800-41046200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:41037000-41041400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:41037000-41041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:41037000-41044400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:41037000-41044800	Weak transcription	Small Intestine	intestine
47	chr15:41037000-41045600	Strong transcription	NHEK	skin
48	chr15:41037200-41042600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:41037200-41042800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:41037200-41042800	Weak transcription	A549	lung

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