Variant report

Variant	rs34409637
Chromosome Location	chr14:68719114-68719115
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68699987..68701829-chr14:68718554..68721500,2	MCF-7	breast:
2	chr14:68660674..68663358-chr14:68719026..68721726,2	MCF-7	breast:
3	chr14:68715259..68719440-chr14:68772805..68775724,5	MCF-7	breast:
4	chr14:68718502..68724365-chr14:68724697..68730654,11	MCF-7	breast:
5	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
6	chr14:68716936..68719181-chr14:68937108..68938850,2	MCF-7	breast:
7	chr14:68717554..68720339-chr20:52691339..52694234,2	MCF-7	breast:
8	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
9	chr14:68718999..68725813-chr14:68770906..68776082,15	MCF-7	breast:
10	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
11	chr14:68718829..68724499-chr14:68924135..68928480,8	MCF-7	breast:
12	chr14:68716374..68719235-chr14:69124469..69126637,2	MCF-7	breast:
13	chr14:68717220..68719898-chr14:69134172..69135890,2	MCF-7	breast:
14	chr14:68691853..68693824-chr14:68716632..68719476,2	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];0.81[EUR][1000 genomes]
rs1080321	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11628885	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs1274637	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1274638	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1274639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1274640	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1274641	0.81[EUR][1000 genomes]
rs1274642	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274643	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274644	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274645	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274646	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274647	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274648	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274649	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274650	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274651	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274652	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274653	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1274654	0.82[AMR][1000 genomes];0.82[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];0.92[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];0.92[EUR][1000 genomes]
rs1274657	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274658	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274659	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274661	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1290939	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[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];0.82[EUR][1000 genomes]
rs1295781	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1295782	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.82[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];0.92[EUR][1000 genomes]
rs1298340	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.92[EUR][1000 genomes]
rs1299581	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1314911	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1314912	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1314913	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1314914	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1314915	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1314916	0.93[CEU][hapmap];0.99[EUR][1000 genomes]
rs1314918	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1314919	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1314921	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[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];0.84[EUR][1000 genomes]
rs1316014	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1316118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.94[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];0.94[EUR][1000 genomes]
rs1467673	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1536455	0.82[EUR][1000 genomes]
rs1555945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17105269	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1744947	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1744949	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1744959	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[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];0.94[EUR][1000 genomes]
rs1751382	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1951631	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]
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];0.90[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];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];0.91[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]
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];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs725453	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];0.97[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[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
rs34409637	GALNTL1	cis	parietal	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
2	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
4	chr14:68711400-68719200	Enhancers	Colon Smooth Muscle	Colon
5	chr14:68712200-68723600	Enhancers	Fetal Kidney	kidney
6	chr14:68712400-68719400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:68712800-68723600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:68713400-68719200	Enhancers	GM12878-XiMat	blood
9	chr14:68713600-68719600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:68713800-68719400	Enhancers	Primary T cells from cord blood	blood
11	chr14:68714400-68719200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:68714400-68719600	Enhancers	Primary B cells from cord blood	blood
13	chr14:68714600-68719200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:68714600-68719400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:68714600-68719400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:68715200-68727200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:68715800-68719600	Weak transcription	Esophagus	oesophagus
18	chr14:68716000-68722000	Weak transcription	Pancreas	Pancrea
19	chr14:68716000-68722400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:68716000-68723000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:68716800-68719400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:68716800-68722000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:68717000-68722400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:68717200-68719400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:68717200-68721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:68717600-68721000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:68717800-68719400	Enhancers	A549	lung
28	chr14:68717800-68721000	Weak transcription	HSMM	muscle
29	chr14:68717800-68721400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:68717800-68721600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:68717800-68722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:68717800-68722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:68717800-68722800	Weak transcription	Ovary	ovary
34	chr14:68717800-68725600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:68718000-68721000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:68718000-68721000	Weak transcription	HMEC	breast
37	chr14:68718000-68721000	Weak transcription	Osteobl	bone
38	chr14:68718000-68722600	Weak transcription	HUVEC	blood vessel
39	chr14:68718200-68719200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:68718200-68721000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:68718200-68722000	Weak transcription	NH-A	brain
42	chr14:68718200-68722200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:68718400-68720200	Weak transcription	HepG2	liver
44	chr14:68718400-68721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:68718400-68721400	Weak transcription	NHEK	skin
46	chr14:68718400-68722000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:68718400-68722000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:68718400-68722000	Weak transcription	Aorta	Aorta
49	chr14:68718600-68719600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:68718600-68720400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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