Variant report

Variant	rs7597940
Chromosome Location	chr2:171971867-171971868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171964302..171967137-chr2:171970157..171973389,3	K562	blood:
2	chr2:171968241..171970769-chr2:171970992..171972766,2	K562	blood:
3	chr2:171962487..171964028-chr2:171970990..171973892,2	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10177560	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10182205	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10183486	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10186343	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10191270	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10198197	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10199500	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10208271	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10208341	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210693	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210791	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210883	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1025240	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1025241	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1025242	0.89[ASN][1000 genomes]
rs1035825	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1035828	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10803855	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930453	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930455	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930456	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930457	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11674590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11899305	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12053543	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12477649	0.86[EUR][1000 genomes]
rs12614580	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12988738	0.81[EUR][1000 genomes]
rs12997252	0.80[ASN][1000 genomes]
rs12998296	0.80[ASN][1000 genomes]
rs13004273	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13010307	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13025198	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13030784	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13034529	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13036123	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395669	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13401706	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13402107	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13403285	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13410683	0.88[EUR][1000 genomes]
rs13411575	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13419444	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13425247	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13427723	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13428613	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430489	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13432813	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1344237	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1529378	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859081	0.82[EUR][1000 genomes]
rs16859142	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17283147	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1962841	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1978592	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1991370	0.80[ASN][1000 genomes]
rs2010114	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2033160	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2052808	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2059724	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2081715	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2114595	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2114596	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2195117	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2217154	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2356593	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2356597	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2356599	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2356608	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555922	0.82[EUR][1000 genomes]
rs2557794	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2557799	0.81[EUR][1000 genomes]
rs2676131	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2676151	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2723233	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2723241	0.80[ASN][1000 genomes]
rs34004615	0.81[EUR][1000 genomes]
rs34518725	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34563349	0.89[ASN][1000 genomes]
rs34792013	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35047553	0.89[ASN][1000 genomes]
rs35173138	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35312173	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35900609	0.80[ASN][1000 genomes]
rs35988467	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36058634	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3731991	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3755121	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770423	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770428	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770433	0.80[EUR][1000 genomes]
rs3770435	0.83[EUR][1000 genomes]
rs4564745	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4668368	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5028603	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55758155	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55987132	0.89[ASN][1000 genomes]
rs55996750	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56114146	0.80[ASN][1000 genomes]
rs56402728	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56405950	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433276	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6710714	0.85[AMR][1000 genomes]
rs6711287	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6714164	0.82[EUR][1000 genomes]
rs6715332	0.81[EUR][1000 genomes]
rs6716127	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6719647	0.80[ASN][1000 genomes]
rs6722537	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6730417	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6732229	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733178	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6734542	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6734903	0.82[EUR][1000 genomes]
rs6743201	0.82[EUR][1000 genomes]
rs6749427	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6750849	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6754315	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761596	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6761642	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71415235	0.80[ASN][1000 genomes]
rs7421377	0.87[EUR][1000 genomes]
rs7578491	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580629	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7581195	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581314	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7585418	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7593193	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7600914	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7603316	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7603340	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7603460	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606502	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7606822	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs930035	0.85[EUR][1000 genomes]
rs930036	0.85[EUR][1000 genomes]
rs958183	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs960222	0.80[EUR][1000 genomes]
rs964172	0.85[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
rs7597940	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:171943400-171973800	Weak transcription	NH-A	brain
5	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:171954600-171973400	Weak transcription	Small Intestine	intestine
10	chr2:171954600-171987200	Weak transcription	Fetal Stomach	stomach
11	chr2:171955600-171973200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:171955800-171980800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:171956400-171980200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:171957000-171972200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:171957000-171975400	Weak transcription	Right Ventricle	heart
16	chr2:171957200-171972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:171957200-171972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:171957200-171973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:171957200-171973800	Weak transcription	Esophagus	oesophagus
20	chr2:171957200-171975800	Weak transcription	Fetal Lung	lung
21	chr2:171957200-171976200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:171957200-171977800	Weak transcription	Thymus	Thymus
23	chr2:171957200-171978000	Weak transcription	NHEK	skin
24	chr2:171957200-171980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:171957200-171980000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:171957200-171982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:171957200-171986000	Weak transcription	Spleen	Spleen
28	chr2:171957200-172010400	Weak transcription	HSMM	muscle
29	chr2:171957400-171972800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:171957400-171975800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:171957600-171975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:171959600-171975800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:171959600-171980000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:171961600-171973200	Weak transcription	Primary T cells from cord blood	blood
35	chr2:171961600-171973400	Weak transcription	Osteobl	bone
36	chr2:171961600-171975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:171962200-171972000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:171963800-171975600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:171964000-171972200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:171964600-171972400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:171964600-171973400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:171965800-171974400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:171966600-171975400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:171966600-171981200	Weak transcription	Brain Anterior Caudate	brain
45	chr2:171966800-171972200	Weak transcription	K562	blood
46	chr2:171966800-171975600	Weak transcription	HMEC	breast
47	chr2:171967000-171972000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:171967000-171973400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:171967000-171974400	Weak transcription	HSMMtube	muscle
50	chr2:171967000-171975400	Weak transcription	Psoas Muscle	Psoas

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