Variant report

Variant	rs965518
Chromosome Location	chr2:171826598-171826599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171823033..171825275-chr2:171825625..171831472,9	K562	blood:
2	chr2:171783032..171788275-chr2:171824950..171831826,10	K562	blood:
3	chr2:171784385..171789962-chr2:171821380..171827816,10	K562	blood:
4	chr2:171824245..171828535-chr2:172013886..172017505,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10182205	0.82[EUR][1000 genomes]
rs10186343	0.84[EUR][1000 genomes]
rs10198197	0.82[EUR][1000 genomes]
rs10208271	0.82[EUR][1000 genomes]
rs10208341	0.82[EUR][1000 genomes]
rs10210693	0.82[EUR][1000 genomes]
rs10210791	0.81[EUR][1000 genomes]
rs10210883	0.84[EUR][1000 genomes]
rs1025240	0.81[EUR][1000 genomes]
rs1025241	0.81[EUR][1000 genomes]
rs1035825	0.82[EUR][1000 genomes]
rs10515934	0.94[ASN][1000 genomes]
rs10803853	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10803854	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10803855	0.85[EUR][1000 genomes]
rs10930448	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930449	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930453	0.85[EUR][1000 genomes]
rs10930455	0.82[EUR][1000 genomes]
rs10930456	0.82[EUR][1000 genomes]
rs10930457	0.82[EUR][1000 genomes]
rs11674590	0.85[EUR][1000 genomes]
rs12151587	0.92[ASN][1000 genomes]
rs12471930	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12612871	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614580	0.84[EUR][1000 genomes]
rs12988738	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12996518	0.94[ASN][1000 genomes]
rs13000644	0.82[ASN][1000 genomes]
rs13000898	0.97[ASN][1000 genomes]
rs13004273	0.86[EUR][1000 genomes]
rs13010307	0.82[EUR][1000 genomes]
rs13011011	0.82[ASN][1000 genomes]
rs13015226	0.88[ASN][1000 genomes]
rs13025198	0.83[EUR][1000 genomes]
rs13026662	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028857	0.88[ASN][1000 genomes]
rs13030784	0.82[EUR][1000 genomes]
rs13034529	0.82[EUR][1000 genomes]
rs13035460	0.88[ASN][1000 genomes]
rs13395669	0.80[EUR][1000 genomes]
rs13401706	0.82[EUR][1000 genomes]
rs13402107	0.81[EUR][1000 genomes]
rs13403285	0.82[EUR][1000 genomes]
rs13411575	0.82[EUR][1000 genomes]
rs13419444	0.82[EUR][1000 genomes]
rs13425247	0.82[EUR][1000 genomes]
rs13427723	0.82[EUR][1000 genomes]
rs13428613	0.82[EUR][1000 genomes]
rs13430489	0.82[EUR][1000 genomes]
rs13432813	0.82[EUR][1000 genomes]
rs1344237	0.81[EUR][1000 genomes]
rs1529378	0.82[EUR][1000 genomes]
rs1529391	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16859066	0.94[ASN][1000 genomes]
rs16859081	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16859142	0.82[EUR][1000 genomes]
rs17281735	0.94[ASN][1000 genomes]
rs1978592	0.85[EUR][1000 genomes]
rs2059724	0.84[EUR][1000 genomes]
rs2081715	0.82[EUR][1000 genomes]
rs2114596	0.81[EUR][1000 genomes]
rs2114738	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195116	0.80[ASN][1000 genomes]
rs2195117	0.86[EUR][1000 genomes]
rs2217154	0.82[EUR][1000 genomes]
rs2356423	0.81[AFR][1000 genomes]
rs2356599	0.80[EUR][1000 genomes]
rs2356608	0.81[EUR][1000 genomes]
rs2557794	0.86[EUR][1000 genomes]
rs2557799	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2676151	0.87[EUR][1000 genomes]
rs34004615	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34005022	0.88[ASN][1000 genomes]
rs34017170	0.85[ASN][1000 genomes]
rs34330182	0.82[ASN][1000 genomes]
rs34342928	0.91[ASN][1000 genomes]
rs34518725	0.83[EUR][1000 genomes]
rs34911788	0.88[ASN][1000 genomes]
rs35123411	0.94[ASN][1000 genomes]
rs35173138	0.82[EUR][1000 genomes]
rs35864840	0.85[ASN][1000 genomes]
rs35890547	0.94[ASN][1000 genomes]
rs35987434	1.00[ASN][1000 genomes]
rs35988467	0.80[EUR][1000 genomes]
rs3755121	0.82[EUR][1000 genomes]
rs3755125	0.88[ASN][1000 genomes]
rs3770423	0.82[EUR][1000 genomes]
rs3770428	0.86[EUR][1000 genomes]
rs3770433	0.84[EUR][1000 genomes]
rs3770435	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770438	0.85[EUR][1000 genomes]
rs3770440	0.94[ASN][1000 genomes]
rs3770441	0.88[ASN][1000 genomes]
rs4544401	0.82[EUR][1000 genomes]
rs4564745	0.82[EUR][1000 genomes]
rs4668349	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4668350	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4668354	0.87[EUR][1000 genomes]
rs4668355	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55758155	0.82[EUR][1000 genomes]
rs55996750	0.86[EUR][1000 genomes]
rs56402728	0.82[EUR][1000 genomes]
rs56405950	0.81[EUR][1000 genomes]
rs6433267	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433276	0.86[EUR][1000 genomes]
rs6709077	0.85[ASN][1000 genomes]
rs6714164	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6714300	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715332	0.85[EUR][1000 genomes]
rs6715386	0.88[ASN][1000 genomes]
rs6716127	0.81[EUR][1000 genomes]
rs6722537	0.85[EUR][1000 genomes]
rs6724493	0.88[ASN][1000 genomes]
rs6729847	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6730417	0.81[EUR][1000 genomes]
rs6731774	0.84[EUR][1000 genomes]
rs6732229	0.83[EUR][1000 genomes]
rs6733178	0.83[EUR][1000 genomes]
rs6734542	0.85[EUR][1000 genomes]
rs6734903	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6742564	0.91[EUR][1000 genomes]
rs6742797	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743201	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6749427	0.81[EUR][1000 genomes]
rs6750849	0.85[EUR][1000 genomes]
rs6754315	0.82[EUR][1000 genomes]
rs6761596	0.83[EUR][1000 genomes]
rs6761642	0.82[EUR][1000 genomes]
rs71415229	0.88[ASN][1000 genomes]
rs71415231	0.82[ASN][1000 genomes]
rs71415232	0.94[ASN][1000 genomes]
rs71415233	0.82[ASN][1000 genomes]
rs731692	0.82[ASN][1000 genomes]
rs731693	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73976229	0.94[ASN][1000 genomes]
rs7570701	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7578491	0.81[EUR][1000 genomes]
rs7581195	0.81[EUR][1000 genomes]
rs7585418	0.86[EUR][1000 genomes]
rs7603316	0.82[EUR][1000 genomes]
rs7603460	0.82[EUR][1000 genomes]
rs7606502	0.82[EUR][1000 genomes]
rs7606822	0.83[EUR][1000 genomes]
rs960222	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs965518	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
2	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:171806000-171826800	Strong transcription	Fetal Muscle Leg	muscle
4	chr2:171811400-171830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:171814600-171829400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:171818400-171829000	Weak transcription	Fetal Brain Male	brain
7	chr2:171819600-171829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:171820200-171827000	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr2:171822200-171829600	Weak transcription	Fetal Heart	heart
10	chr2:171822600-171829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:171822600-171830200	Weak transcription	Stomach Mucosa	stomach
12	chr2:171823000-171829800	Weak transcription	Right Ventricle	heart
13	chr2:171823200-171829000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:171823200-171830200	Weak transcription	Small Intestine	intestine
15	chr2:171823600-171829000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:171823600-171829200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:171823600-171829400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:171823800-171827000	Enhancers	Liver	Liver
19	chr2:171823800-171827600	Strong transcription	NHEK	skin
20	chr2:171823800-171829000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:171823800-171829000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:171823800-171829000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:171823800-171829000	Weak transcription	Fetal Brain Female	brain
24	chr2:171823800-171829000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:171823800-171829200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:171823800-171829200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:171823800-171829200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:171823800-171829800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:171823800-171829800	Weak transcription	Ovary	ovary
30	chr2:171823800-171829800	Weak transcription	Psoas Muscle	Psoas
31	chr2:171823800-171829800	Weak transcription	NHDF-Ad	bronchial
32	chr2:171824000-171828800	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:171824000-171829000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:171824000-171829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:171824000-171829000	Weak transcription	K562	blood
36	chr2:171824000-171829200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:171824000-171829400	Weak transcription	HMEC	breast
38	chr2:171824000-171829600	Weak transcription	Colonic Mucosa	Colon
39	chr2:171824000-171829600	Weak transcription	Hela-S3	cervix
40	chr2:171824000-171829600	Weak transcription	HSMMtube	muscle
41	chr2:171824000-171829800	Weak transcription	Fetal Kidney	kidney
42	chr2:171824000-171829800	Weak transcription	Fetal Lung	lung
43	chr2:171824400-171829400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:171824400-171829400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:171824400-171829400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:171824600-171826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:171824600-171826600	Weak transcription	HUVEC	blood vessel
48	chr2:171824600-171829000	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:171824600-171829200	Weak transcription	GM12878-XiMat	blood
50	chr2:171824600-171829400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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