Variant report

Variant	rs13016705
Chromosome Location	chr2:171943820-171943821
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171940581..171942917-chr2:171943648..171945919,3	K562	blood:
2	chr2:171829663..171830542-chr2:171943328..171944295,3	MCF-7	breast:
3	chr2:171943630..171945702-chr2:171997919..172000356,2	K562	blood:
4	chr2:171942057..171944707-chr2:171946083..171949627,4	MCF-7	breast:
5	chr2:171942106..171944844-chr2:171973253..171975943,2	MCF-7	breast:
6	chr2:171939365..171942427-chr2:171942880..171945148,3	K562	blood:
7	chr2:171943472..171944017-chr2:172015511..172016356,2	MCF-7	breast:
8	chr2:171943462..171944981-chr2:171945527..171947241,2	MCF-7	breast:
9	chr2:171943225..171944994-chr2:171985056..171987250,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs10177560	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10182205	0.90[ASN][1000 genomes]
rs10182207	0.90[ASN][1000 genomes]
rs10183486	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs10186343	0.85[ASN][1000 genomes]
rs10189480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10191270	1.00[CHB][hapmap]
rs10193992	0.90[ASN][1000 genomes]
rs10197081	0.90[ASN][1000 genomes]
rs10198197	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10199500	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10206289	0.90[ASN][1000 genomes]
rs10207361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10208271	0.81[ASN][1000 genomes]
rs10208341	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10210693	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10210791	0.81[ASN][1000 genomes]
rs10210883	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1025240	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs1025241	0.81[ASN][1000 genomes]
rs1025242	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1035825	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs1035826	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1035828	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs1045327	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[ASN][1000 genomes]
rs10515934	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10803854	1.00[CHB][hapmap]
rs10803855	0.85[ASN][1000 genomes]
rs10930449	1.00[CHB][hapmap]
rs10930453	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10930455	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10930456	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10930457	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11553951	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11674590	0.85[ASN][1000 genomes]
rs11899305	0.85[ASN][1000 genomes]
rs12612871	1.00[CHB][hapmap]
rs12692962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12997252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];0.85[ASN][1000 genomes]
rs12998296	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13002517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13003218	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13004273	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs13006705	0.90[ASN][1000 genomes]
rs13007415	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13008199	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13010307	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13025198	0.85[ASN][1000 genomes]
rs13026444	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13030784	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13034529	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13036123	1.00[CHB][hapmap]
rs13395669	0.81[ASN][1000 genomes]
rs13401706	0.81[ASN][1000 genomes]
rs13402107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13403285	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13411575	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13417709	0.93[ASN][1000 genomes]
rs13417864	0.83[ASN][1000 genomes]
rs13419444	0.81[ASN][1000 genomes]
rs13420171	0.90[ASN][1000 genomes]
rs13425247	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13427723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13428613	0.81[ASN][1000 genomes]
rs13430489	0.85[ASN][1000 genomes]
rs13432325	0.90[ASN][1000 genomes]
rs13432813	0.81[ASN][1000 genomes]
rs1344236	0.93[ASN][1000 genomes]
rs1344237	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1529378	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs1529391	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs16859066	1.00[CHB][hapmap]
rs16859142	0.85[ASN][1000 genomes]
rs17282929	0.87[ASN][1000 genomes]
rs17283147	0.85[ASN][1000 genomes]
rs1962841	0.85[ASN][1000 genomes]
rs1978592	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs1991370	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2033160	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2052808	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2081715	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2114595	0.85[ASN][1000 genomes]
rs2114596	0.81[ASN][1000 genomes]
rs2195072	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs2195116	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2195117	0.85[ASN][1000 genomes]
rs2217154	0.81[ASN][1000 genomes]
rs2356593	0.82[ASN][1000 genomes]
rs2356597	0.85[ASN][1000 genomes]
rs2356607	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2356608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs2555922	1.00[CHB][hapmap]
rs2557794	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2676131	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2676151	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2723233	0.85[ASN][1000 genomes]
rs2723241	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2723242	0.97[ASN][1000 genomes]
rs28740798	0.93[ASN][1000 genomes]
rs34143031	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34303929	0.97[ASN][1000 genomes]
rs34453397	0.90[ASN][1000 genomes]
rs34518725	0.85[ASN][1000 genomes]
rs34563349	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34622740	0.93[ASN][1000 genomes]
rs34792013	0.85[ASN][1000 genomes]
rs34960296	0.97[ASN][1000 genomes]
rs35047553	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35112379	0.93[ASN][1000 genomes]
rs35173138	0.81[ASN][1000 genomes]
rs35279794	0.83[ASN][1000 genomes]
rs35312173	0.81[ASN][1000 genomes]
rs35332006	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35381957	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35900609	0.85[ASN][1000 genomes]
rs35988467	0.81[ASN][1000 genomes]
rs36058634	0.85[ASN][1000 genomes]
rs3731991	0.85[ASN][1000 genomes]
rs3755121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs3755125	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3770423	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3770428	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs3770433	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs3770440	1.00[CHB][hapmap]
rs3770442	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap]
rs4564745	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4668355	1.00[CHB][hapmap]
rs4668368	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs5028603	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs55758155	0.81[ASN][1000 genomes]
rs55987132	0.81[ASN][1000 genomes]
rs55996750	0.85[ASN][1000 genomes]
rs56114146	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56405950	0.81[ASN][1000 genomes]
rs57236236	0.97[ASN][1000 genomes]
rs6433276	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs6710035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6714164	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6716127	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs6719647	0.85[ASN][1000 genomes]
rs6722537	0.85[ASN][1000 genomes]
rs6730417	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs6732229	0.85[ASN][1000 genomes]
rs6733178	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6734542	0.85[ASN][1000 genomes]
rs6742797	1.00[CHB][hapmap]
rs6750849	0.85[ASN][1000 genomes]
rs6754315	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6757510	0.97[ASN][1000 genomes]
rs6758331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6761596	0.85[ASN][1000 genomes]
rs6761642	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs6761759	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6761889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs71415235	0.85[ASN][1000 genomes]
rs719548	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72886381	0.97[ASN][1000 genomes]
rs73013441	0.93[ASN][1000 genomes]
rs731692	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs731693	1.00[CHB][hapmap]
rs7568083	0.93[ASN][1000 genomes]
rs7579424	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7580629	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7581195	0.81[ASN][1000 genomes]
rs7585418	0.85[ASN][1000 genomes]
rs7585619	0.93[ASN][1000 genomes]
rs7587244	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7593186	0.97[ASN][1000 genomes]
rs7593193	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7594177	0.90[ASN][1000 genomes]
rs7600914	0.85[ASN][1000 genomes]
rs7603316	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7603340	0.85[ASN][1000 genomes]
rs7603460	0.81[ASN][1000 genomes]
rs7603858	0.87[ASN][1000 genomes]
rs7606502	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs7606822	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs958183	0.85[ASN][1000 genomes]
rs9646785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13016705	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
2	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
3	chr2:171916600-171944600	Weak transcription	Lung	lung
4	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:171916600-171970800	Weak transcription	Ovary	ovary
6	chr2:171917000-171946200	Weak transcription	Psoas Muscle	Psoas
7	chr2:171917000-171948000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:171917000-171953200	Weak transcription	HSMM	muscle
9	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:171929200-171944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:171931200-171950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:171933200-171954000	Weak transcription	Fetal Stomach	stomach
15	chr2:171933200-171954200	Weak transcription	Esophagus	oesophagus
16	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:171933800-171953200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:171934000-171955800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:171934800-171945800	Weak transcription	HMEC	breast
20	chr2:171937400-171951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:171937600-171947400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:171937600-171948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:171937600-171953600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:171937800-171945800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:171938200-171944800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:171938400-171945600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:171938400-171953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:171938400-171953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:171938600-171946800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:171939000-171945200	Weak transcription	Primary B cells from cord blood	blood
32	chr2:171939200-171947600	Weak transcription	Dnd41	blood
33	chr2:171939200-171948600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:171939200-171950400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:171940200-171947400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:171941000-171954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:171941200-171945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:171941200-171948800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:171941200-171954400	Weak transcription	NHEK	skin
40	chr2:171941800-171950200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:171942200-171946200	Enhancers	HepG2	liver
42	chr2:171942800-171944600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr2:171942800-171945000	Enhancers	Fetal Thymus	thymus
44	chr2:171942800-171947200	Enhancers	Liver	Liver
45	chr2:171943200-171944000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:171943200-171944000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr2:171943200-171944000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:171943200-171944000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:171943200-171944200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:171943200-171944200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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