Variant report

Variant	rs1314911
Chromosome Location	chr14:68698230-68698231
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68688076..68702777-chr14:69257523..69263819,21	MCF-7	breast:
2	chr14:68610235..68612397-chr14:68697672..68699451,2	MCF-7	breast:
3	chr14:68697979..68700527-chr14:69251377..69254277,2	MCF-7	breast:
4	chr14:68602094..68605658-chr14:68697621..68700210,3	MCF-7	breast:
5	chr14:68630532..68635204-chr14:68697159..68701180,5	MCF-7	breast:
6	chr14:68697764..68699372-chr14:68745653..68748495,2	MCF-7	breast:
7	chr14:68697623..68699184-chr14:68705803..68708348,2	MCF-7	breast:
8	chr14:68675359..68680545-chr14:68694673..68700591,7	MCF-7	breast:
9	chr14:68697755..68699525-chr14:68925028..68926847,2	MCF-7	breast:
10	chr14:68405745..68408366-chr14:68697948..68699941,3	MCF-7	breast:
11	chr14:68676724..68679537-chr14:68695696..68698941,3	MCF-7	breast:
12	chr14:68696801..68698863-chr17:57914178..57916102,2	MCF-7	breast:
13	chr14:68406980..68410129-chr14:68693689..68698967,5	MCF-7	breast:
14	chr14:68400663..68402399-chr14:68697653..68700271,2	MCF-7	breast:
15	chr14:68611791..68614328-chr14:68697550..68699528,2	MCF-7	breast:
16	chr14:68658527..68664263-chr14:68695508..68700857,17	MCF-7	breast:
17	chr14:68605985..68611095-chr14:68698031..68701146,7	MCF-7	breast:
18	chr14:68657222..68663496-chr14:68695468..68701015,13	MCF-7	breast:
19	chr14:68698187..68701712-chr14:69259612..69262470,4	MCF-7	breast:
20	chr14:68696499..68699543-chr14:68714462..68717236,3	MCF-7	breast:
21	chr14:68691744..68694555-chr14:68697000..68699651,2	MCF-7	breast:
22	chr14:68628675..68631095-chr14:68697947..68699547,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1028842	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10483809	1.00[CHB][hapmap]
rs1080321	0.85[EUR][1000 genomes]
rs11621638	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11628885	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1274637	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs1274638	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1274639	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1274640	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1274641	0.86[EUR][1000 genomes]
rs1274642	0.87[EUR][1000 genomes]
rs1274643	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1274644	0.87[EUR][1000 genomes]
rs1274645	0.87[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1274646	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274647	0.87[EUR][1000 genomes]
rs1274648	0.97[EUR][1000 genomes]
rs1274649	0.87[EUR][1000 genomes]
rs1274650	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274651	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274652	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1274653	0.97[EUR][1000 genomes]
rs1274654	0.87[EUR][1000 genomes]
rs1274655	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1274656	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1274657	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274658	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274659	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1274661	0.87[EUR][1000 genomes]
rs1290939	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs1295780	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1295781	0.87[EUR][1000 genomes]
rs1295782	0.90[GIH][hapmap];0.87[EUR][1000 genomes]
rs1296527	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs1298340	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1299581	0.87[EUR][1000 genomes]
rs1314912	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1314913	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1314914	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1314915	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1314916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314918	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1314919	0.85[EUR][1000 genomes]
rs1314921	0.95[EUR][1000 genomes]
rs1315984	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1316014	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1316118	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1316170	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs1536455	0.87[EUR][1000 genomes]
rs17105269	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs1744947	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1744949	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1744959	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1751381	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs1751382	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs17828120	1.00[ASW][hapmap]
rs17828548	1.00[CHB][hapmap]
rs1951631	0.93[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1952246	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.81[CEU][hapmap]
rs2255767	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs2588808	0.81[CEU][hapmap]
rs2588809	0.81[CEU][hapmap];0.83[GIH][hapmap];0.82[EUR][1000 genomes]
rs2588814	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs2588819	0.81[CEU][hapmap]
rs2588827	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2767368	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs2767377	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2767378	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs2767382	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs34558039	1.00[ASN][1000 genomes]
rs7150454	1.00[LWK][hapmap]
rs7155764	0.81[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs725453	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs72725154	1.00[ASN][1000 genomes]
rs72725158	1.00[ASN][1000 genomes]
rs72725160	1.00[ASN][1000 genomes]
rs72725163	1.00[ASN][1000 genomes]
rs72725173	1.00[ASN][1000 genomes]
rs729138	1.00[CHB][hapmap]
rs8009813	1.00[CHB][hapmap]
rs8010233	1.00[CHB][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
rs1314911	GALNTL1	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68676800-68703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:68685000-68705200	Weak transcription	K562	blood
3	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:68691000-68705800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:68693000-68705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:68695800-68701000	Enhancers	Liver	Liver
7	chr14:68696000-68700400	Enhancers	NHDF-Ad	bronchial
8	chr14:68696000-68701400	Enhancers	Fetal Stomach	stomach
9	chr14:68696200-68700400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:68696400-68698600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:68696400-68700400	Enhancers	Fetal Muscle Leg	muscle
12	chr14:68696400-68700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:68696400-68701000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:68696400-68701200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:68696600-68698800	Enhancers	GM12878-XiMat	blood
16	chr14:68696600-68702000	Enhancers	Stomach Mucosa	stomach
17	chr14:68696800-68698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:68696800-68698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:68696800-68699800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:68696800-68699800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:68697000-68699600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:68697000-68700000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:68697000-68701200	Enhancers	Fetal Intestine Small	intestine
24	chr14:68697000-68701400	Enhancers	Colon Smooth Muscle	Colon
25	chr14:68697000-68702000	Enhancers	Fetal Kidney	kidney
26	chr14:68697000-68702000	Enhancers	Fetal Lung	lung
27	chr14:68697000-68702000	Enhancers	NH-A	brain
28	chr14:68697200-68698800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:68697200-68698800	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:68697200-68699000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:68697200-68699000	Enhancers	Osteobl	bone
32	chr14:68697200-68699400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:68697200-68700000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:68697200-68700400	Enhancers	NHLF	lung
35	chr14:68697200-68700800	Enhancers	Stomach Smooth Muscle	stomach
36	chr14:68697200-68701200	Enhancers	Hela-S3	cervix
37	chr14:68697200-68701400	Enhancers	HMEC	breast
38	chr14:68697400-68698400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:68697400-68698400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:68697400-68698400	Enhancers	HUVEC	blood vessel
41	chr14:68697400-68699400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:68697400-68699400	Flanking Active TSS	A549	lung
43	chr14:68697400-68702000	Enhancers	Fetal Intestine Large	intestine
44	chr14:68697400-68711400	Weak transcription	Spleen	Spleen
45	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
46	chr14:68697600-68698400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:68697600-68699000	Enhancers	NHEK	skin
48	chr14:68697600-68699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:68697600-68699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:68697600-68700800	Enhancers	HSMMtube	muscle

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