Variant report

Variant	rs6710714
Chromosome Location	chr2:171994385-171994386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171784395..171785901-chr2:171993554..171995979,2	K562	blood:
2	chr2:171992534..171995319-chr2:172015654..172017975,4	MCF-7	breast:
3	chr2:171992932..171995036-chr2:171997675..172000538,3	MCF-7	breast:
4	chr2:171980528..171986238-chr2:171991327..171994997,6	K562	blood:
5	chr2:171994040..171997027-chr2:172088765..172091455,2	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10177560	0.84[AMR][1000 genomes]
rs10182205	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10183486	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10186343	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10198197	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10208271	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10208341	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10210693	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10210791	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10210883	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1025240	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1025241	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1025242	0.81[ASN][1000 genomes]
rs1035825	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1035828	0.81[AMR][1000 genomes]
rs10803855	0.83[AMR][1000 genomes]
rs10930453	0.84[AMR][1000 genomes]
rs10930455	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10930456	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10930457	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11674590	0.84[AMR][1000 genomes]
rs11899305	0.81[AMR][1000 genomes]
rs12053543	0.84[AMR][1000 genomes]
rs12614580	0.81[AMR][1000 genomes]
rs13010307	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13025198	0.91[AMR][1000 genomes]
rs13030784	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13034529	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13036123	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13395669	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13401706	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13402107	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13403285	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13411575	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13419444	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13425247	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13427723	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13428613	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13430489	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13432813	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1344237	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1529378	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17283147	0.83[AMR][1000 genomes]
rs1962841	0.84[AMR][1000 genomes]
rs1978592	0.81[AMR][1000 genomes]
rs2010114	0.84[AMR][1000 genomes]
rs2033160	0.83[AMR][1000 genomes]
rs2052808	0.83[AMR][1000 genomes]
rs2059724	0.81[AMR][1000 genomes]
rs2081715	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2114595	0.82[AMR][1000 genomes]
rs2114596	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2195117	0.81[AMR][1000 genomes]
rs2217154	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2356593	0.85[AMR][1000 genomes]
rs2356597	0.86[AMR][1000 genomes]
rs2356599	0.88[AMR][1000 genomes]
rs2356608	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34563349	0.81[ASN][1000 genomes]
rs34792013	0.84[AMR][1000 genomes]
rs35047553	0.81[ASN][1000 genomes]
rs35173138	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35312173	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35988467	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3731991	0.84[AMR][1000 genomes]
rs3755121	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770428	0.81[AMR][1000 genomes]
rs4564745	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4668368	0.86[AMR][1000 genomes]
rs5028603	0.83[AMR][1000 genomes]
rs55758155	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55987132	0.81[ASN][1000 genomes]
rs56402728	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56405950	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433276	0.81[AMR][1000 genomes]
rs6711287	0.84[AMR][1000 genomes]
rs6716127	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6730417	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732229	0.91[AMR][1000 genomes]
rs6733178	0.89[AMR][1000 genomes]
rs6749427	0.84[AMR][1000 genomes]
rs6754315	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6761596	0.89[AMR][1000 genomes]
rs6761642	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7578491	0.85[AMR][1000 genomes]
rs7580629	0.84[AMR][1000 genomes]
rs7581195	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7581314	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7593193	0.86[AMR][1000 genomes]
rs7597940	0.85[AMR][1000 genomes]
rs7603316	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7603460	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7606502	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs958183	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs6710714	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171957200-172010400	Weak transcription	HSMM	muscle
3	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
7	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
12	chr2:171986400-171995800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:171986400-171996400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
15	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:171988400-171999800	Enhancers	HepG2	liver
17	chr2:171989200-171996600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:171989400-172007000	Weak transcription	Lung	lung
19	chr2:171989800-171996800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:171990000-171994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:171990000-171996400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:171990200-171994400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:171990200-171994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:171990200-171997400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:171990400-171994600	Weak transcription	Primary T cells from cord blood	blood
27	chr2:171990400-171995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
30	chr2:171991200-171997400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:171991600-171996600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:171991600-171998000	Weak transcription	Aorta	Aorta
33	chr2:171991800-171995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:171992200-171995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:171992200-171997200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:171992200-171999800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:171993000-171995400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:171993000-171995800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:171993200-171995000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:171993200-171995400	Enhancers	Liver	Liver
41	chr2:171993400-171994400	Enhancers	A549	lung
42	chr2:171993400-171994800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:171993600-171997600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:171993800-171995200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:171993800-171995800	Weak transcription	Gastric	stomach
46	chr2:171993800-171996400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:171993800-171996600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:171993800-171997600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:171993800-171997600	Weak transcription	Small Intestine	intestine
50	chr2:171993800-172001800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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