Variant report

Variant	rs17097870
Chromosome Location	chr14:31863225-31863226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31854043..31856997-chr14:31862023..31864715,2	MCF-7	breast:
2	chr14:31861407..31863284-chr14:31887639..31889155,2	K562	blood:
3	chr14:31856402..31859394-chr14:31860227..31863431,5	K562	blood:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10872851	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs11156666	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156670	0.93[ASN][1000 genomes]
rs11624447	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11625148	0.84[EUR][1000 genomes]
rs11627106	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627355	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12147258	0.83[AMR][1000 genomes]
rs12588420	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs12886573	0.81[CHB][hapmap]
rs12893465	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs1888576	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2378865	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs34709766	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35904795	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45490191	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981092	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4981842	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56314035	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571416	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144879	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149240	0.96[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs7150262	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs7152230	0.96[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157977	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159731	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8017888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17097870	C14orf126	Cis_1M	lymphoblastoid	RTeQTL
rs17097870	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
8	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
14	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
15	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
16	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
17	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:31838000-31875000	Weak transcription	K562	blood
19	chr14:31841400-31864800	Weak transcription	NHEK	skin
20	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:31844200-31865200	Weak transcription	Right Ventricle	heart
23	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
25	chr14:31847800-31865200	Weak transcription	NHLF	lung
26	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:31849400-31865400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31851000-31872600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:31851200-31870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:31851200-31872400	Strong transcription	HepG2	liver
31	chr14:31851600-31872800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:31852400-31867400	Weak transcription	HUVEC	blood vessel
33	chr14:31853000-31866800	Weak transcription	Fetal Brain Female	brain
34	chr14:31853000-31867400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:31853000-31870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31853000-31870400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:31853200-31875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
39	chr14:31853600-31870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:31854600-31867000	Weak transcription	Brain Substantia Nigra	brain
41	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:31855000-31867000	Weak transcription	A549	lung
43	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
44	chr14:31856000-31864200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:31856200-31865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:31856600-31865600	Weak transcription	NH-A	brain
47	chr14:31856800-31865200	Strong transcription	HSMM	muscle
48	chr14:31858600-31868800	Weak transcription	GM12878-XiMat	blood
49	chr14:31859000-31863400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:31859000-31864000	Weak transcription	NHDF-Ad	bronchial

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