Variant report

Variant	rs1951631
Chromosome Location	chr14:68717529-68717530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
2	chr14:68716909..68718440-chr14:68825908..68828082,2	MCF-7	breast:
3	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
4	chr14:68716325..68719103-chr14:68757433..68761699,4	MCF-7	breast:
5	chr14:68705859..68707707-chr14:68717110..68718892,2	K562	blood:
6	chr14:68708247..68712239-chr14:68715393..68718268,4	MCF-7	breast:
7	chr14:68715587..68718504-chr14:69240857..69243611,2	MCF-7	breast:
8	chr14:68714804..68718493-chr14:68766094..68768941,3	MCF-7	breast:
9	chr14:68715259..68719440-chr14:68772805..68775724,5	MCF-7	breast:
10	chr14:68717006..68718787-chr14:69279079..69280637,2	MCF-7	breast:
11	chr14:68715317..68717585-chr14:68825893..68828768,2	MCF-7	breast:
12	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
13	chr14:68716936..68719181-chr14:68937108..68938850,2	MCF-7	breast:
14	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
15	chr14:68714818..68717761-chr14:68719497..68721496,2	MCF-7	breast:
16	chr14:68714912..68718303-chr14:68931649..68935294,4	MCF-7	breast:
17	chr14:68716541..68718661-chr14:69283257..69284761,2	MCF-7	breast:
18	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
19	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
20	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
21	chr14:68713812..68718253-chr14:68930214..68933178,5	MCF-7	breast:
22	chr14:68716374..68719235-chr14:69124469..69126637,2	MCF-7	breast:
23	chr14:68715942..68718392-chr14:68782258..68784729,2	MCF-7	breast:
24	chr14:68717220..68719898-chr14:69134172..69135890,2	MCF-7	breast:
25	chr14:68604794..68607877-chr14:68715482..68717811,3	MCF-7	breast:
26	chr14:68716843..68718749-chr14:69119159..69120912,2	MCF-7	breast:
27	chr14:68691853..68693824-chr14:68716632..68719476,2	MCF-7	breast:
28	chr14:68715572..68717664-chr14:69031801..69033626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1028842	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1080321	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11628885	0.91[CEU][hapmap];0.99[EUR][1000 genomes]
rs1274637	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1274638	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1274639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274640	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274641	0.82[EUR][1000 genomes]
rs1274642	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274643	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274644	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274645	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274646	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274647	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274648	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274649	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274650	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274651	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274652	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274653	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274654	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274655	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274656	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1274657	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274658	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274659	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1274661	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1290939	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs1295780	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1295781	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1295782	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1296527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1298340	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1299581	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1314911	0.93[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1314912	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1314913	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1314914	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1314915	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1314916	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs1314918	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1314919	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1314921	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1315984	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1316014	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1316118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1316170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1467673	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1536455	0.83[EUR][1000 genomes]
rs1555945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17105269	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1744947	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1744949	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1744959	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1751381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1751382	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1952245	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs1952246	0.83[TSI][hapmap]
rs1958111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs1958113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1958116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1980850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2038979	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2243905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2255767	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2588806	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2588808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588809	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2588814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs2588815	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs2588816	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588818	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588819	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588821	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2588823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588825	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2588828	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2588834	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs2767365	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2767377	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2767378	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2767379	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2767383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2767384	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34409637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435620	1.00[CHB][hapmap]
rs7141160	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap]
rs7141450	1.00[CHB][hapmap]
rs7155764	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs725453	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8022206	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1951631	GALNTL1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
2	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
3	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
4	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
7	chr14:68709600-68717800	Enhancers	Adipose Nuclei	Adipose
8	chr14:68710000-68718800	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:68710200-68718600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:68710200-68718800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:68710200-68719000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
13	chr14:68710400-68718600	Enhancers	Brain Hippocampus Middle	brain
14	chr14:68710400-68718600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr14:68710400-68718800	Enhancers	Fetal Stomach	stomach
16	chr14:68710800-68717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:68710800-68718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:68710800-68719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:68711200-68718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:68711400-68719200	Enhancers	Colon Smooth Muscle	Colon
21	chr14:68712000-68717800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:68712200-68717800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:68712200-68718000	Enhancers	Brain Anterior Caudate	brain
24	chr14:68712200-68718000	Enhancers	HUVEC	blood vessel
25	chr14:68712200-68718000	Enhancers	Osteobl	bone
26	chr14:68712200-68723600	Enhancers	Fetal Kidney	kidney
27	chr14:68712400-68717600	Enhancers	Liver	Liver
28	chr14:68712400-68718400	Enhancers	HepG2	liver
29	chr14:68712400-68718800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:68712400-68719400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:68712600-68717800	Enhancers	HSMM	muscle
32	chr14:68712800-68718000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:68712800-68718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:68712800-68718400	Enhancers	Hela-S3	cervix
35	chr14:68712800-68723600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:68713000-68718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:68713000-68718400	Enhancers	NHEK	skin
38	chr14:68713000-68718800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:68713400-68719200	Enhancers	GM12878-XiMat	blood
40	chr14:68713600-68719600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:68713800-68719400	Enhancers	Primary T cells from cord blood	blood
42	chr14:68714200-68719000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:68714400-68717800	Flanking Active TSS	A549	lung
44	chr14:68714400-68718200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:68714400-68718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:68714400-68718600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:68714400-68718600	Enhancers	Fetal Muscle Leg	muscle
48	chr14:68714400-68718800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:68714400-68718800	Enhancers	Fetal Thymus	thymus
50	chr14:68714400-68718800	Enhancers	NHLF	lung

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