Variant report

Variant	rs6731774
Chromosome Location	chr2:171816370-171816371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171806216..171808590-chr2:171814117..171816828,2	MCF-7	breast:
2	chr2:171786521..171789315-chr2:171814811..171817447,2	K562	blood:
3	chr2:171787073..171789315-chr2:171814638..171817447,2	K562	blood:

Variant related genes	Relation type
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10803853	0.84[EUR][1000 genomes]
rs10803854	0.88[EUR][1000 genomes]
rs10930448	0.88[EUR][1000 genomes]
rs10930449	0.88[EUR][1000 genomes]
rs11686985	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11902360	0.82[ASN][1000 genomes]
rs11902369	0.82[ASN][1000 genomes]
rs12471930	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12612871	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12621769	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13025033	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1529391	0.85[EUR][1000 genomes]
rs16859050	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2098999	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2114738	0.84[EUR][1000 genomes]
rs2356423	0.87[ASN][1000 genomes]
rs3755124	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3755126	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3770438	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667667	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4667673	0.88[ASN][1000 genomes]
rs4668343	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4668344	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4668345	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4668346	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4668349	0.88[EUR][1000 genomes]
rs4668350	0.87[EUR][1000 genomes]
rs4668354	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4668355	0.90[EUR][1000 genomes]
rs6433266	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6433267	0.85[EUR][1000 genomes]
rs6714300	0.88[EUR][1000 genomes]
rs6729847	0.84[EUR][1000 genomes]
rs6742564	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6742797	0.88[EUR][1000 genomes]
rs6760293	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs731693	0.88[EUR][1000 genomes]
rs7559136	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7560889	0.81[ASN][1000 genomes]
rs7567927	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7570701	0.88[EUR][1000 genomes]
rs7585607	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7598194	0.84[ASN][1000 genomes]
rs965518	0.84[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	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
rs6731774	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	chr2:171803600-171824600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:171803800-171824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:171803800-171825600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:171804000-171825000	Strong transcription	HepG2	liver
7	chr2:171804600-171817400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:171804800-171824800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:171805000-171817400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:171805000-171819600	Strong transcription	K562	blood
12	chr2:171805000-171824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:171805000-171825000	Strong transcription	Dnd41	blood
14	chr2:171805200-171824800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:171805400-171816400	Strong transcription	NHEK	skin
16	chr2:171805400-171824600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:171805400-171825000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:171805400-171825200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:171805400-171825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:171805400-171825600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:171805600-171816600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:171805600-171817400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:171805600-171821800	Strong transcription	HSMM	muscle
26	chr2:171805600-171824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:171805600-171824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:171805600-171825800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:171805800-171818400	Strong transcription	Adipose Nuclei	Adipose
30	chr2:171805800-171821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:171805800-171823800	Strong transcription	NHDF-Ad	bronchial
32	chr2:171805800-171825200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:171805800-171825800	Strong transcription	Placenta	Placenta
34	chr2:171805800-171825800	Strong transcription	Osteobl	bone
35	chr2:171805800-171826200	Strong transcription	Fetal Thymus	thymus
36	chr2:171806000-171821200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:171806000-171821600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:171806000-171821600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:171806000-171821800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:171806000-171821800	Strong transcription	NH-A	brain
41	chr2:171806000-171822200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:171806000-171822400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:171806000-171823400	Strong transcription	Liver	Liver
44	chr2:171806000-171823800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:171806000-171824400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:171806000-171824400	Strong transcription	Left Ventricle	heart
47	chr2:171806000-171824800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:171806000-171825000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:171806000-171825000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:171806000-171825200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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