Variant report

Variant	rs35507656
Chromosome Location	chr18:43652541-43652542
allele	A/C
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	CTCF	chr18:43652440-43652590	AoAF	blood vessel:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
2	POLR2A	chr18:43651769-43652723	MCF10A-Er-Src	breast:	n/a	n/a
3	NRF1	chr18:43651987-43652575	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr18:43652400-43652550	HMEC	breast:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
5	E2F6	chr18:43652488-43652690	K562	blood:	n/a	n/a
6	CTCF	chr18:43652460-43652610	HRE	kidney:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
7	POLR2A	chr18:43651891-43652743	SK-N-MC	brain:	n/a	n/a
8	ZBTB7A	chr18:43651141-43652680	ECC-1	luminal epithelium:	n/a	chr18:43651829-43651838
9	ZNF143	chr18:43652091-43652551	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr18:43651820-43652574	GM12892	blood:	n/a	n/a
11	CTCF	chr18:43652440-43652590	WI-38	lung:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
12	FOSL1	chr18:43652054-43652542	K562	blood:	n/a	n/a
13	MAX	chr18:43651557-43652564	ECC-1	luminal epithelium:	n/a	chr18:43651886-43651893 chr18:43652044-43652053
14	UBTF	chr18:43651006-43652701	K562	blood:	n/a	n/a
15	CTCF	chr18:43652400-43652550	HEK293	kidney:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
16	CTCF	chr18:43652400-43652550	GM06990	blood:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
17	CTCF	chr18:43652440-43652590	HRPEpiC	eye:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
18	CTCF	chr18:43652420-43652570	AG10803	skin:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
19	POLR2A	chr18:43651890-43652690	HUVEC	blood vessel:	n/a	n/a
20	MTA3	chr18:43652252-43652622	GM12878	blood:	n/a	n/a
21	TCF12	chr18:43651689-43652634	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr18:43652400-43652550	HA-sp	spinal cord:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
23	MTA3	chr18:43650648-43652748	GM12878	blood:	n/a	n/a
24	RAD21	chr18:43652092-43652547	H1-hESC	embryonic stem cell:	n/a	chr18:43652376-43652390
25	TEAD4	chr18:43652039-43652557	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr18:43651631-43652652	K562	blood:	n/a	chr18:43651886-43651893 chr18:43652044-43652053
27	CTCF	chr18:43652440-43652590	AG09319	gingival:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
28	ELF1	chr18:43650797-43652660	GM12878	blood:	n/a	n/a
29	CTCF	chr18:43652420-43652570	WERI-Rb-1	eye:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
30	POLR2A	chr18:43651851-43652549	GM18951	blood:	n/a	n/a
31	ZBTB7A	chr18:43651044-43652622	K562	blood:	n/a	chr18:43651829-43651838
32	POLR2A	chr18:43651908-43652599	H1-neurons	neurons:	n/a	n/a
33	CTCF	chr18:43652420-43652570	GM12875	blood:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
34	POLR2A	chr18:43651486-43652594	GM18505	blood:	n/a	n/a
35	MAX	chr18:43652506-43652733	K562	blood:	n/a	n/a
36	POLR2A	chr18:43652051-43652575	HCT-116	colon:	n/a	n/a
37	CUX1	chr18:43652259-43652602	K562	blood:	n/a	n/a
38	NFIC	chr18:43651784-43652608	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr18:43651718-43652977	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr18:43652420-43652570	HFF	foreskin:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
41	POLR2A	chr18:43651935-43652555	GM12878	blood:	n/a	n/a
42	MAZ	chr18:43651556-43652607	IMR90	lung:	n/a	chr18:43651886-43651893 chr18:43652044-43652053
43	PML	chr18:43651748-43652626	GM12878	blood:	n/a	n/a
44	E2F6	chr18:43651604-43652795	H1-hESC	embryonic stem cell:	n/a	chr18:43651830-43651839
45	CREB1	chr18:43652042-43652551	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAZ	chr18:43651719-43652661	K562	blood:	n/a	chr18:43651886-43651893 chr18:43652044-43652053
47	MXI1	chr18:43651593-43653290	IMR90	lung:	n/a	n/a
48	CTCF	chr18:43652420-43652570	SK-N-SH_RA	brain:	n/a	chr18:43652461-43652479 chr18:43652463-43652476
49	TBP	chr18:43651848-43652622	K562	blood:	n/a	n/a
50	ZBTB7A	chr18:43651055-43653183	ECC-1	luminal epithelium:	n/a	chr18:43651829-43651838

Variant related genes	Relation type
PSTPIP2	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11082509	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082510	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659357	0.89[EUR][1000 genomes]
rs11659478	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11659795	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11661945	0.83[EUR][1000 genomes]
rs11664764	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11872954	0.85[EUR][1000 genomes]
rs11872985	0.85[EUR][1000 genomes]
rs11874712	0.86[EUR][1000 genomes]
rs12954944	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13381709	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800637	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800639	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800640	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2298787	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28457840	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504655	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28699609	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34907121	0.89[EUR][1000 genomes]
rs3765636	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075249	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56181324	0.91[EUR][1000 genomes]
rs62096500	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7230064	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7235373	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244921	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7244950	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8083998	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8085444	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8085743	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088881	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8089150	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8091452	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8092674	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8093880	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8094902	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095031	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8095608	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8097521	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9304326	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304327	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304328	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9783884	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783887	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783888	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944637	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9944659	0.86[ASN][1000 genomes]
rs9945606	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9945751	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9947908	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954278	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9961065	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962380	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9962458	0.90[EUR][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43650200-43652800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr18:43650800-43652600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:43650800-43652600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:43650800-43652600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr18:43650800-43652600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:43650800-43652800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr18:43650800-43652800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr18:43650800-43652800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr18:43650800-43653000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:43650800-43653000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr18:43651000-43652600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:43651000-43652600	Active TSS	Colon Smooth Muscle	Colon
13	chr18:43651000-43652800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr18:43651000-43652800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr18:43651000-43653000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:43651200-43652600	Active TSS	Fetal Kidney	kidney
17	chr18:43651200-43652600	Flanking Active TSS	Right Ventricle	heart
18	chr18:43651200-43652600	Active TSS	HSMMtube	muscle
19	chr18:43651200-43652600	Active TSS	NHDF-Ad	bronchial
20	chr18:43651200-43652800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr18:43651200-43652800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:43651400-43652600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:43651400-43652600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr18:43651400-43652600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr18:43651400-43652600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:43651400-43652600	Active TSS	Aorta	Aorta
27	chr18:43651400-43652600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr18:43651400-43652600	Active TSS	Gastric	stomach
29	chr18:43651400-43652600	Flanking Active TSS	HUVEC	blood vessel
30	chr18:43651400-43652800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr18:43651400-43652800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr18:43651400-43652800	Active TSS	K562	blood
33	chr18:43651400-43657400	Weak transcription	A549	lung
34	chr18:43651600-43652600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:43651600-43652600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr18:43651600-43652600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:43651600-43652600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:43651600-43652600	Active TSS	Esophagus	oesophagus
39	chr18:43651600-43652600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr18:43651600-43652800	Active TSS	Ovary	ovary
41	chr18:43651600-43652800	Active TSS	Hela-S3	cervix
42	chr18:43651600-43657600	Weak transcription	Dnd41	blood
43	chr18:43651800-43652600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:43651800-43652600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:43651800-43652600	Active TSS	Brain Angular Gyrus	brain
46	chr18:43651800-43652600	Bivalent Enhancer	Fetal Brain Male	brain
47	chr18:43651800-43652600	Active TSS	Lung	lung
48	chr18:43651800-43652600	Active TSS	Thymus	Thymus
49	chr18:43651800-43652600	Bivalent/Poised TSS	HepG2	liver
50	chr18:43651800-43652800	Active TSS	H9 Cell Line	embryonic stem cell

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