Variant report

Variant	rs34330182
Chromosome Location	chr2:171807484-171807485
allele	A/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	chr2:171807463-171808068	HepG2	liver:	n/a	n/a
2	SPI1	chr2:171806706-171807539	GM12878	blood:	n/a	chr2:171807102-171807115

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171784483..171787346-chr2:171806811..171808545,2	MCF-7	breast:
2	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: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1045327	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10515934	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10803853	0.82[ASN][1000 genomes]
rs10803854	0.88[ASN][1000 genomes]
rs10930448	0.88[ASN][1000 genomes]
rs10930449	0.88[ASN][1000 genomes]
rs12471930	0.88[ASN][1000 genomes]
rs12612871	0.88[ASN][1000 genomes]
rs12996518	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997252	0.81[EUR][1000 genomes]
rs13000644	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13000898	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13001088	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13007415	0.81[EUR][1000 genomes]
rs13011011	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015226	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13026662	0.82[ASN][1000 genomes]
rs13028857	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13035460	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1529391	0.88[ASN][1000 genomes]
rs16859066	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17281735	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2114738	0.82[ASN][1000 genomes]
rs2557799	0.82[ASN][1000 genomes]
rs34005022	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34017170	0.81[EUR][1000 genomes]
rs34342928	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34532258	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34911788	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34960296	0.84[AMR][1000 genomes]
rs35123411	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35230775	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35279794	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35864840	0.82[EUR][1000 genomes]
rs35890547	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35987434	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3755125	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770440	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770441	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770442	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821090	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4668355	0.88[ASN][1000 genomes]
rs6433267	0.82[ASN][1000 genomes]
rs6709077	0.82[EUR][1000 genomes]
rs6714164	0.82[ASN][1000 genomes]
rs6714300	0.88[ASN][1000 genomes]
rs6715386	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6724493	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6729847	0.82[ASN][1000 genomes]
rs6742797	0.88[ASN][1000 genomes]
rs6757510	0.81[EUR][1000 genomes]
rs6758331	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71415229	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71415231	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71415232	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71415233	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72886381	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs731692	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731693	0.88[ASN][1000 genomes]
rs73976229	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7570701	0.88[ASN][1000 genomes]
rs7593186	0.84[AMR][1000 genomes]
rs965518	0.82[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
rs34330182	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	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
3	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
4	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
6	chr2:171787800-171809200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:171788000-171807600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:171788000-171808400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:171789600-171810000	Weak transcription	Stomach Mucosa	stomach
10	chr2:171794200-171809200	Weak transcription	Pancreas	Pancrea
11	chr2:171796800-171808200	Weak transcription	Fetal Heart	heart
12	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:171800000-171809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:171800600-171809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:171803600-171824600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:171803800-171824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:171803800-171825600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:171804000-171825000	Strong transcription	HepG2	liver
19	chr2:171804600-171808800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:171804600-171817400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:171804800-171824800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:171805000-171817400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:171805000-171819600	Strong transcription	K562	blood
25	chr2:171805000-171824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:171805000-171825000	Strong transcription	Dnd41	blood
27	chr2:171805200-171824800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:171805400-171812800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:171805400-171814000	Strong transcription	HUVEC	blood vessel
30	chr2:171805400-171814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:171805400-171816400	Strong transcription	NHEK	skin
32	chr2:171805400-171824600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:171805400-171825000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:171805400-171825200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:171805400-171825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:171805400-171825600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:171805600-171812800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:171805600-171813400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:171805600-171814600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:171805600-171815200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:171805600-171816600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:171805600-171817400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:171805600-171821800	Strong transcription	HSMM	muscle
46	chr2:171805600-171824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:171805600-171824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:171805600-171825800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:171805800-171813200	Strong transcription	HMEC	breast
50	chr2:171805800-171818400	Strong transcription	Adipose Nuclei	Adipose

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