Variant report

Variant	rs17738266
Chromosome Location	chr5:74062266-74062267
allele	C/G
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	chr5:74062195-74063174	HepG2	liver:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
2	CTCF	chr5:74062216-74062459	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr5:74062260-74062410	GM12870	blood:	n/a	n/a
4	CTCF	chr5:74062260-74062446	GM13977	blood:	n/a	n/a
5	CTCF	chr5:74062240-74062390	HL-60	blood:	n/a	n/a
6	MAX	chr5:74062210-74063798	A549	lung:	n/a	n/a
7	GTF2F1	chr5:74062177-74063825	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:74062221-74062464	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:74062257-74062411	Pancreas_OC	pancreas:	n/a	n/a
10	MYC	chr5:74062256-74063509	NB4	blood:	n/a	n/a
11	CTCF	chr5:74062220-74062370	GM12864	blood:	n/a	n/a
12	CTCF	chr5:74062245-74062430	Kidney_OC	kidney:	n/a	n/a
13	MAFK	chr5:74062250-74063177	HepG2	liver:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
14	MYC	chr5:74062221-74063814	K562	blood:	n/a	n/a
15	CTCF	chr5:74062240-74062390	GM12869	blood:	n/a	n/a
16	CTCF	chr5:74062231-74062469	Medullo	brain:	n/a	n/a
17	MYC	chr5:74062260-74063512	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr5:74062260-74062410	GM06990	blood:	n/a	n/a
19	ELK1	chr5:74062265-74063440	GM12878	blood:	n/a	chr5:74062947-74062956 chr5:74062947-74062956
20	CTCF	chr5:74062260-74062410	WERI-Rb-1	eye:	n/a	n/a
21	TCF12	chr5:74062227-74063956	A549	lung:	n/a	n/a
22	CTCF	chr5:74062220-74062370	NHDF-neo	bronchial:	n/a	n/a
23	HCFC1	chr5:74062043-74063786	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:74062265-74063743	K562	blood:	n/a	n/a
25	CTCF	chr5:74062240-74062390	GM12872	blood:	n/a	n/a
26	CTCF	chr5:74062260-74062410	HCM	heart:	n/a	n/a
27	CTCF	chr5:74062244-74062491	Gliobla	brain:	n/a	n/a
28	EP300	chr5:74062225-74062540	GM12878	blood:	n/a	n/a
29	CTCF	chr5:74062136-74063397	GM12878	blood:	n/a	n/a
30	MXI1	chr5:74061749-74064458	SK-N-SH	brain:	n/a	n/a
31	RAD21	chr5:74062212-74062533	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr5:74062258-74064596	HepG2	liver:	n/a	n/a
33	ZNF143	chr5:74062234-74063657	GM12878	blood:	n/a	chr5:74063254-74063272
34	CTCF	chr5:74062194-74062515	A549	lung:	n/a	n/a
35	MYC	chr5:74062093-74063977	A549	lung:	n/a	chr5:74063870-74063886
36	MXI1	chr5:74062219-74064047	IMR90	lung:	n/a	n/a
37	IRF1	chr5:74062248-74063704	K562	blood:	n/a	n/a
38	MAFK	chr5:74062196-74063200	Hela-S3	cervix:	n/a	chr5:74062377-74062388 chr5:74062373-74062388
39	CTCF	chr5:74062243-74062474	Lung_OC	lung:	n/a	n/a
40	IRF1	chr5:74062195-74063638	K562	blood:	n/a	n/a
41	RAD21	chr5:74062144-74063257	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUN	chr5:74062180-74063866	K562	blood:	n/a	n/a
43	CTCF	chr5:74062229-74062486	K562	blood:	n/a	n/a
44	SIN3A	chr5:74062246-74063871	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr5:74062195-74062505	K562	blood:	n/a	n/a
46	CTCF	chr5:74062171-74062566	A549	lung:	n/a	n/a
47	CTCF	chr5:74062120-74062270	A549	lung:	n/a	n/a
48	CHD1	chr5:74061825-74063823	IMR90	lung:	n/a	chr5:74062820-74062830
49	CTCF	chr5:74062161-74062470	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr5:74062173-74062589	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:
2	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:

Variant related genes	Relation type
NSA2	TF binding region
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10062244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1043968	0.92[JPT][hapmap]
rs10515189	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10515191	1.00[JPT][hapmap]
rs11556477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739122	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11740871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741464	0.81[ASN][1000 genomes]
rs11741789	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs11742773	0.83[ASN][1000 genomes]
rs11746069	0.91[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11746611	0.81[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11747965	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11749137	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs11948188	1.00[JPT][hapmap]
rs11955898	0.92[JPT][hapmap]
rs1350097	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs1447453	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs1531103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs15694	0.85[JPT][hapmap]
rs16872333	0.80[ASN][1000 genomes]
rs16872346	1.00[JPT][hapmap]
rs16872347	0.80[ASN][1000 genomes]
rs16872364	0.80[ASN][1000 genomes]
rs17670701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17670867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670975	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17671140	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17738565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17738674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17852781	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1812122	0.84[ASN][1000 genomes]
rs1992712	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993370	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1993372	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044410	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2061162	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2084116	0.83[ASN][1000 genomes]
rs2084118	0.83[ASN][1000 genomes]
rs2084119	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100033	0.83[ASN][1000 genomes]
rs3733794	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3932895	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3968877	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4594835	0.80[ASN][1000 genomes]
rs56068548	0.80[ASN][1000 genomes]
rs56202905	0.80[ASN][1000 genomes]
rs58184895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61093699	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366366	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366371	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62366373	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366375	0.81[ASN][1000 genomes]
rs62366376	0.81[ASN][1000 genomes]
rs62366406	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62366413	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366414	0.83[ASN][1000 genomes]
rs62366415	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366416	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366418	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366419	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366420	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366421	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366423	0.80[ASN][1000 genomes]
rs62366424	0.80[ASN][1000 genomes]
rs62366426	0.80[ASN][1000 genomes]
rs62366450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366454	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366455	0.80[ASN][1000 genomes]
rs62366456	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62366457	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366458	0.80[ASN][1000 genomes]
rs62366459	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62367765	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62367766	0.80[ASN][1000 genomes]
rs62367767	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6453077	0.85[JPT][hapmap]
rs6453084	1.00[JPT][hapmap]
rs6453086	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6453087	1.00[JPT][hapmap]
rs6866082	1.00[JPT][hapmap]
rs6873067	0.80[ASN][1000 genomes]
rs6874094	0.83[ASN][1000 genomes]
rs6874609	1.00[JPT][hapmap]
rs6877116	1.00[JPT][hapmap]
rs6877442	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6879781	0.91[JPT][hapmap]
rs6882499	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6883061	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6884843	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6885093	0.85[JPT][hapmap]
rs6885675	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6890815	0.83[ASN][1000 genomes]
rs6897698	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs6897904	0.80[ASN][1000 genomes]
rs72764640	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72764681	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7708203	0.85[JPT][hapmap]
rs7717223	0.80[ASN][1000 genomes]
rs7724292	0.80[ASN][1000 genomes]
rs7728889	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs820828	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs820830	0.89[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs820834	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9686657	1.00[JPT][hapmap];0.83[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74060800-74062400	Enhancers	Spleen	Spleen
2	chr5:74060800-74062400	Flanking Active TSS	Hela-S3	cervix
3	chr5:74061000-74062400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:74061000-74062400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr5:74061000-74063000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr5:74061000-74064600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:74061200-74062400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:74061200-74062400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr5:74061200-74062400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr5:74061200-74063800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr5:74061200-74064400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:74061400-74063600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:74061400-74063800	Active TSS	NHLF	lung
14	chr5:74061400-74064000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:74061400-74064000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:74061400-74064000	Active TSS	Fetal Kidney	kidney
17	chr5:74061400-74064000	Active TSS	NHDF-Ad	bronchial
18	chr5:74061400-74064200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74061400-74064400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:74061600-74064000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:74061600-74064000	Active TSS	A549	lung
22	chr5:74061600-74064000	Active TSS	GM12878-XiMat	blood
23	chr5:74061800-74062400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:74061800-74062400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:74061800-74062400	Flanking Active TSS	Liver	Liver
26	chr5:74061800-74062400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr5:74061800-74062400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr5:74061800-74062400	Flanking Active TSS	Fetal Brain Female	brain
29	chr5:74061800-74062400	Flanking Active TSS	Fetal Stomach	stomach
30	chr5:74061800-74062400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:74061800-74062600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr5:74061800-74062600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:74061800-74063600	Active TSS	NH-A	brain
34	chr5:74061800-74063800	Active TSS	HSMM	muscle
35	chr5:74061800-74064200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr5:74061800-74064400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:74061800-74064600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:74062000-74062400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr5:74062000-74062400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:74062000-74062400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr5:74062000-74062400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:74062000-74062400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:74062000-74062400	Flanking Active TSS	Fetal Lung	lung
44	chr5:74062000-74063600	Active TSS	Brain Angular Gyrus	brain
45	chr5:74062000-74063600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:74062000-74063600	Active TSS	Right Ventricle	heart
47	chr5:74062000-74063600	Active TSS	Small Intestine	intestine
48	chr5:74062000-74063600	Active TSS	Stomach Mucosa	stomach
49	chr5:74062000-74063800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:74062000-74063800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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