Variant report

Variant	rs17852781
Chromosome Location	chr5:74046464-74046465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74045315..74047772-chr5:74062616..74065560,2	MCF-7	breast:
2	chr5:74040354..74042046-chr5:74045118..74047151,2	MCF-7	breast:
3	chr5:74046364..74048358-chr5:74051691..74053651,2	MCF-7	breast:
4	chr5:74034327..74035890-chr5:74046348..74047892,2	K562	blood:
5	chr5:74040810..74043898-chr5:74045296..74047358,3	K562	blood:
6	chr5:74040810..74043802-chr5:74045296..74047358,2	K562	blood:

Variant related genes	Relation type
ENSG00000164346	Chromatin interaction
ENSG00000164347	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1043968	0.82[ASN][1000 genomes]
rs10515189	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10515191	0.84[ASN][1000 genomes]
rs11556477	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11740871	0.81[ASN][1000 genomes]
rs11741464	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11743415	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11743655	0.82[ASN][1000 genomes]
rs11746069	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746611	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746717	0.91[ASN][1000 genomes]
rs11948188	0.84[ASN][1000 genomes]
rs1531103	0.81[ASN][1000 genomes]
rs15694	0.82[ASN][1000 genomes]
rs17670605	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17670701	0.84[ASN][1000 genomes]
rs17670867	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17670897	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17670975	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17671140	0.81[ASN][1000 genomes]
rs17738111	0.81[ASN][1000 genomes]
rs17738266	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17738565	0.81[ASN][1000 genomes]
rs17738645	0.81[ASN][1000 genomes]
rs17738674	0.81[ASN][1000 genomes]
rs1992712	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1993372	0.81[ASN][1000 genomes]
rs2084119	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2314936	0.84[ASN][1000 genomes]
rs2314937	0.84[ASN][1000 genomes]
rs3932895	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3968877	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5020673	0.82[ASN][1000 genomes]
rs55870102	0.84[ASN][1000 genomes]
rs56365996	0.84[ASN][1000 genomes]
rs58184895	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58367004	0.80[ASN][1000 genomes]
rs59110717	0.84[ASN][1000 genomes]
rs61093699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366371	0.81[ASN][1000 genomes]
rs62366373	0.84[ASN][1000 genomes]
rs62366375	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366376	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366406	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366408	0.82[ASN][1000 genomes]
rs62366413	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366415	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366416	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366417	0.80[ASN][1000 genomes]
rs62366418	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366419	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366420	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366421	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366450	0.81[ASN][1000 genomes]
rs62366453	0.81[ASN][1000 genomes]
rs62366454	0.81[ASN][1000 genomes]
rs62366457	0.81[ASN][1000 genomes]
rs62366459	0.81[ASN][1000 genomes]
rs62367765	0.81[ASN][1000 genomes]
rs6453075	0.82[ASN][1000 genomes]
rs6453077	0.82[ASN][1000 genomes]
rs6453084	0.82[ASN][1000 genomes]
rs6863738	0.82[ASN][1000 genomes]
rs6874609	0.82[ASN][1000 genomes]
rs6879781	0.82[ASN][1000 genomes]
rs72764666	0.80[ASN][1000 genomes]
rs72764681	0.81[ASN][1000 genomes]
rs820825	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs820827	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs820830	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs820832	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs820833	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs820835	0.92[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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
3	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:74008400-74047800	Strong transcription	Placenta	Placenta
7	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:74010200-74048000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:74012000-74051600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:74012200-74050400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:74013400-74047400	Strong transcription	Adipose Nuclei	Adipose
14	chr5:74014400-74047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:74014400-74051600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:74015200-74048600	Weak transcription	Stomach Mucosa	stomach
17	chr5:74016400-74052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:74018000-74060800	Weak transcription	Gastric	stomach
19	chr5:74018600-74062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:74018800-74049000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:74019200-74058600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:74021600-74060800	Weak transcription	Spleen	Spleen
23	chr5:74021800-74046600	Weak transcription	Fetal Brain Male	brain
24	chr5:74022000-74060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:74022800-74052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:74023400-74047600	Strong transcription	Fetal Thymus	thymus
27	chr5:74023800-74048600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:74024200-74049400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:74025000-74062000	Weak transcription	Aorta	Aorta
30	chr5:74027400-74052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:74029600-74052200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:74031800-74052600	Weak transcription	Small Intestine	intestine
33	chr5:74032000-74054200	Weak transcription	Lung	lung
34	chr5:74033800-74053000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:74037000-74049600	Strong transcription	HSMM	muscle
36	chr5:74037400-74047400	Strong transcription	Primary B cells from cord blood	blood
37	chr5:74037400-74047600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:74037400-74047800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:74037600-74047600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:74037600-74047800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:74037800-74049400	Strong transcription	Liver	Liver
42	chr5:74038000-74049200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:74038000-74052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:74038400-74047400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:74038800-74047400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:74038800-74047400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:74038800-74047400	Strong transcription	NH-A	brain
48	chr5:74039200-74047400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:74039200-74047400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:74039200-74047400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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