Variant report

Variant	rs6433759
Chromosome Location	chr2:180015053-180015054
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	MAFK	chr2:180015041-180015186	HepG2	liver:	n/a	chr2:180015155-180015166

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179628215..179630011-chr2:180014131..180016832,2	MCF-7	breast:

Variant related genes	Relation type
SESTD1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1048026	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10497533	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497534	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897308	0.82[AFR][1000 genomes]
rs11900884	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490997	0.81[AFR][1000 genomes]
rs16866635	0.82[AFR][1000 genomes]
rs16866665	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866667	0.85[AFR][1000 genomes]
rs16866673	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363183	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363246	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17363323	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363393	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17363449	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363603	0.86[ASN][1000 genomes]
rs17453976	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17454024	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17454108	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17454150	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454164	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17454192	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17454458	0.88[ASN][1000 genomes]
rs2008215	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044477	0.82[AFR][1000 genomes]
rs2305170	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731739	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816345	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4101465	0.81[ASN][1000 genomes]
rs4499457	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58582728	0.84[ASN][1000 genomes]
rs60072979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433758	0.83[AFR][1000 genomes]
rs6433762	0.85[AFR][1000 genomes]
rs6433765	0.82[AFR][1000 genomes]
rs6433766	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707001	0.85[AFR][1000 genomes]
rs6710100	0.86[AFR][1000 genomes]
rs6723850	0.83[AFR][1000 genomes]
rs6725309	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745433	0.81[AFR][1000 genomes]
rs7566810	0.81[AFR][1000 genomes]
rs7598995	0.94[AFR][1000 genomes]
rs879539	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs930620	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3060	chr2:179990791-180035511	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179973400-180030200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
4	chr2:179980000-180038800	Weak transcription	HMEC	breast
5	chr2:179980000-180056800	Weak transcription	HSMM	muscle
6	chr2:179981400-180016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:179985000-180025600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:179986600-180030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
10	chr2:179995800-180016200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:179996200-180047600	Weak transcription	NH-A	brain
12	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
13	chr2:180000600-180016200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:180000600-180016200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:180001200-180016200	Strong transcription	HepG2	liver
16	chr2:180002400-180016400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:180002400-180030200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:180003200-180039800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:180003800-180016200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:180004800-180019200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:180004800-180046000	Weak transcription	Spleen	Spleen
22	chr2:180005000-180028800	Weak transcription	Hela-S3	cervix
23	chr2:180005600-180040200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:180005600-180044400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:180005600-180044400	Weak transcription	Esophagus	oesophagus
26	chr2:180005800-180018200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:180005800-180030200	Weak transcription	Thymus	Thymus
28	chr2:180005800-180043200	Weak transcription	Fetal Brain Male	brain
29	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:180006000-180030600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:180006000-180044600	Weak transcription	Pancreas	Pancrea
32	chr2:180006200-180016600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:180006200-180031400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:180006200-180031400	Weak transcription	Fetal Brain Female	brain
35	chr2:180006400-180030200	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:180006600-180042000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
38	chr2:180006800-180031600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:180007200-180028600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:180007400-180035200	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:180007400-180035600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:180007400-180042200	Weak transcription	Brain Angular Gyrus	brain
44	chr2:180007400-180043000	Weak transcription	Aorta	Aorta
45	chr2:180007600-180030400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:180007600-180031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:180007600-180031200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:180008400-180030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:180008400-180042200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:180008600-180028400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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