Variant report

Variant	rs4668350
Chromosome Location	chr2:171809771-171809772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:171809370-171809840	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:171808292-171813183	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171807096..171809968-chr2:171810006..171812450,2	MCF-7	breast:

Variant related genes	Relation type
GORASP2	TF binding region
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10515934	0.89[ASN][1000 genomes]
rs10803853	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10803854	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930448	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930449	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12471930	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612871	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12996518	0.89[ASN][1000 genomes]
rs13000898	0.81[ASN][1000 genomes]
rs13015226	0.84[ASN][1000 genomes]
rs13026662	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13035460	0.84[ASN][1000 genomes]
rs1529391	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16859066	0.89[ASN][1000 genomes]
rs16859081	0.81[ASN][1000 genomes]
rs17281735	0.89[ASN][1000 genomes]
rs2114738	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2195116	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2557799	0.84[ASN][1000 genomes]
rs34004615	0.81[ASN][1000 genomes]
rs34017170	0.81[ASN][1000 genomes]
rs34342928	0.86[ASN][1000 genomes]
rs34911788	0.84[ASN][1000 genomes]
rs35123411	0.89[ASN][1000 genomes]
rs35864840	0.81[ASN][1000 genomes]
rs35890547	0.89[ASN][1000 genomes]
rs35987434	0.84[ASN][1000 genomes]
rs3755125	0.84[ASN][1000 genomes]
rs3770438	0.91[EUR][1000 genomes]
rs3770440	0.89[ASN][1000 genomes]
rs3770441	0.84[ASN][1000 genomes]
rs4668349	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4668354	0.90[EUR][1000 genomes]
rs4668355	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433267	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709077	0.81[ASN][1000 genomes]
rs6714164	0.84[ASN][1000 genomes]
rs6714300	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6715386	0.84[ASN][1000 genomes]
rs6724493	0.84[ASN][1000 genomes]
rs6729847	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731774	0.87[EUR][1000 genomes]
rs6734903	0.81[ASN][1000 genomes]
rs6742564	0.86[EUR][1000 genomes]
rs6742797	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6743201	0.81[ASN][1000 genomes]
rs71415229	0.84[ASN][1000 genomes]
rs71415232	0.89[ASN][1000 genomes]
rs731693	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73976229	0.89[ASN][1000 genomes]
rs7570701	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs965518	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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
rs4668350	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
3	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
4	chr2:171789600-171810000	Weak transcription	Stomach Mucosa	stomach
5	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:171803600-171824600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:171803800-171824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:171803800-171825600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:171804000-171825000	Strong transcription	HepG2	liver
10	chr2:171804600-171817400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:171804800-171824800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:171805000-171817400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:171805000-171819600	Strong transcription	K562	blood
15	chr2:171805000-171824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:171805000-171825000	Strong transcription	Dnd41	blood
17	chr2:171805200-171824800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:171805400-171812800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:171805400-171814000	Strong transcription	HUVEC	blood vessel
20	chr2:171805400-171814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:171805400-171816400	Strong transcription	NHEK	skin
22	chr2:171805400-171824600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:171805400-171825000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:171805400-171825200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:171805400-171825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:171805400-171825600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:171805600-171812800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:171805600-171813400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:171805600-171814600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:171805600-171815200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:171805600-171816600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:171805600-171817400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:171805600-171821800	Strong transcription	HSMM	muscle
36	chr2:171805600-171824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:171805600-171824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:171805600-171825800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:171805800-171813200	Strong transcription	HMEC	breast
40	chr2:171805800-171818400	Strong transcription	Adipose Nuclei	Adipose
41	chr2:171805800-171821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:171805800-171823800	Strong transcription	NHDF-Ad	bronchial
43	chr2:171805800-171825200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:171805800-171825800	Strong transcription	Placenta	Placenta
45	chr2:171805800-171825800	Strong transcription	Osteobl	bone
46	chr2:171805800-171826200	Strong transcription	Fetal Thymus	thymus
47	chr2:171806000-171810200	Strong transcription	NHLF	lung
48	chr2:171806000-171811200	Strong transcription	Right Ventricle	heart
49	chr2:171806000-171811400	Strong transcription	Psoas Muscle	Psoas
50	chr2:171806000-171812600	Strong transcription	HSMMtube	muscle

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