Variant report

Variant	rs17733008
Chromosome Location	chr15:40674920-40674921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr15:40674889-40675312	H1-hESC	embryonic stem cell:	n/a	chr15:40675104-40675118
2	POLR2A	chr15:40674845-40675923	Hela-S3	cervix:	n/a	n/a
3	SP4	chr15:40674775-40675310	H1-hESC	embryonic stem cell:	n/a	chr15:40675051-40675062
4	YY1	chr15:40674707-40675416	SK-N-SH_RA	brain:	n/a	chr15:40675032-40675044
5	MYC	chr15:40674782-40674933	GM12878	blood:	n/a	n/a
6	KAP1	chr15:40674902-40675346	U2OS	brain:	n/a	n/a
7	MYC	chr15:40674533-40675267	H1-hESC	embryonic stem cell:	n/a	chr15:40674946-40674955
8	GABPA	chr15:40674704-40675741	K562	blood:	n/a	n/a
9	TCF7L2	chr15:40674885-40675349	HCT-116	colon:	n/a	n/a
10	YY1	chr15:40674543-40675341	SK-N-SH_RA	brain:	n/a	chr15:40675032-40675044
11	HCFC1	chr15:40674786-40675548	K562	blood:	n/a	n/a
12	YY1	chr15:40674657-40675239	GM12878	blood:	n/a	chr15:40675032-40675044
13	POLR2A	chr15:40674839-40675729	NB4	blood:	n/a	n/a
14	SIX5	chr15:40674816-40675298	GM12878	blood:	n/a	n/a
15	MAX	chr15:40674866-40675934	NB4	blood:	n/a	chr15:40675694-40675704 chr15:40674946-40674955 chr15:40675693-40675708
16	CEBPB	chr15:40674781-40675253	Hela-S3	cervix:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
17	MAX	chr15:40674822-40675775	K562	blood:	n/a	chr15:40675694-40675704 chr15:40674946-40674955 chr15:40675693-40675708
18	SIN3AK20	chr15:40674760-40675716	MCF-7	breast:	n/a	n/a
19	EGR1	chr15:40674680-40675513	HCT-116	colon:	n/a	chr15:40675104-40675118
20	MAX	chr15:40674903-40675361	SK-N-SH	brain:	n/a	chr15:40674946-40674955
21	BACH1	chr15:40674915-40675294	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr15:40674640-40675575	A549	lung:	n/a	chr15:40675032-40675044
23	REST	chr15:40674860-40675310	K562	blood:	n/a	n/a
24	POLR2A	chr15:40674880-40675823	HL-60	blood:	n/a	n/a
25	POLR2A	chr15:40674859-40675737	ECC-1	luminal epithelium:	n/a	n/a
26	SMARCB1	chr15:40674830-40675723	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr15:40674903-40675465	SK-N-SH	brain:	n/a	n/a
28	RFX5	chr15:40674891-40675347	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:40674846-40675878	K562	blood:	n/a	n/a
30	CHD2	chr15:40674685-40675308	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZKSCAN1	chr15:40674872-40675306	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr15:40674728-40675622	HepG2	liver:	n/a	n/a
33	YY1	chr15:40674674-40675346	H1-hESC	embryonic stem cell:	n/a	chr15:40675032-40675044
34	TAF1	chr15:40674859-40675572	K562	blood:	n/a	n/a
35	JUN	chr15:40674684-40675284	H1-hESC	embryonic stem cell:	n/a	n/a
36	GABPA	chr15:40674719-40675618	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr15:40674806-40675734	H1-neurons	neurons:	n/a	n/a
38	CEBPB	chr15:40674792-40675198	IMR90	lung:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
39	ZNF143	chr15:40674795-40675401	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr15:40674851-40675333	K562	blood:	n/a	n/a
41	FOXM1	chr15:40674679-40675866	SK-N-SH	brain:	n/a	n/a
42	TAF1	chr15:40674869-40675331	H1-neurons	neurons:	n/a	n/a
43	CEBPB	chr15:40674454-40675133	HepG2	liver:	n/a	chr15:40674943-40674954 chr15:40674943-40674956
44	POLR2A	chr15:40674838-40676024	HepG2	liver:	n/a	n/a
45	GABPA	chr15:40674890-40675319	HepG2	liver:	n/a	n/a
46	MYBL2	chr15:40674761-40675508	HepG2	liver:	n/a	n/a
47	BRCA1	chr15:40674788-40675301	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr15:40674914-40675398	K562	blood:	n/a	n/a
49	YY1	chr15:40674824-40675220	HCT-116	colon:	n/a	chr15:40675032-40675044
50	GTF2F1	chr15:40674858-40675327	Hela-S3	cervix:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40674883-40674933	BE2_C	brain:	n/a
2	chr15:40674910-40674960	BE2_C	brain:	n/a
3	chr15:40674900-40674950	BJ	skin:	n/a
4	chr15:40674878-40674928	MCF10A-Er-Src	breast:	n/a
5	chr15:40674900-40674950	ECC-1	luminal epithelium:	n/a
6	chr15:40674883-40674933	Caco-2	colon:	n/a
7	chr15:40674883-40674933	T-47D	breast:	n/a
8	chr15:40674883-40674933	AG09309	skin:	n/a
9	chr15:40674883-40674933	HMEC	breast:	n/a
10	chr15:40674878-40674928	ProgFib	skin:	n/a
11	chr15:40674878-40674928	AoSMC	blood vessel:	n/a
12	chr15:40674883-40674933	SAEC	small airway:	n/a
13	chr15:40674878-40674928	HUVEC	blood vessel:	n/a
14	chr15:40674900-40674950	HRCEpiC	kidney:	n/a
15	chr15:40674900-40674950	HEK293	kidney:	embryo
16	chr15:40674910-40674960	AG10803	skin:	n/a
17	chr15:40674900-40674950	LNCaP	prostate:	n/a
18	chr15:40674910-40674960	Jurkat	blood:	n/a
19	chr15:40674883-40674933	HEK293	kidney:	embryo
20	chr15:40674910-40674960	A549	lung:	n/a
21	chr15:40674910-40674960	PANC-1	pancreas:	n/a
22	chr15:40674878-40674928	BJ	skin:	n/a
23	chr15:40674883-40674933	GM19239	blood:	n/a
24	chr15:40674910-40674960	LNCaP	prostate:	n/a
25	chr15:40674883-40674933	HepG2	liver:	n/a
26	chr15:40674910-40674960	GM19239	blood:	n/a
27	chr15:40674878-40674928	RPTEC	kidney:	n/a
28	chr15:40674900-40674950	T-47D	breast:	n/a
29	chr15:40674878-40674928	HRE	kidney:	n/a
30	chr15:40674910-40674960	HMEC	breast:	n/a
31	chr15:40674910-40674960	Hepatocyte	liver:	n/a
32	chr15:40674878-40674928	AG09309	skin:	n/a
33	chr15:40674878-40674928	H1-hESC	embryonic stem cell:	embryo
34	chr15:40674910-40674960	GM06990	blood:	n/a
35	chr15:40674900-40674950	HIPEpiC	eye:	n/a
36	chr15:40674878-40674928	PrEC	prostate:	n/a
37	chr15:40674900-40674950	PrEC	prostate:	n/a
38	chr15:40674900-40674950	HAEpiC	amniotic membrane:	n/a
39	chr15:40674910-40674960	PFSK-1	brain:	n/a
40	chr15:40674878-40674928	IMR90	lung:	fetal
41	chr15:40674883-40674933	GM12878	blood:	n/a
42	chr15:40674900-40674950	Hepatocyte	liver:	n/a
43	chr15:40674878-40674928	NHDF-neo	bronchial:	n/a
44	chr15:40674910-40674960	IMR90	lung:	fetal
45	chr15:40674910-40674960	GM12892	blood:	n/a
46	chr15:40674910-40674960	NH-A	brain:	n/a
47	chr15:40674883-40674933	NB4	blood:	n/a
48	chr15:40674878-40674928	Caco-2	colon:	n/a
49	chr15:40674878-40674928	Hela-S3	cervix:	n/a
50	chr15:40674878-40674928	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40674190..40678981-chr15:40695777..40699659,7	MCF-7	breast:
2	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:
3	chr15:40663732..40667062-chr15:40674726..40678158,3	MCF-7	breast:

No data

Variant related genes	Relation type
KNSTRN	TF binding region
KNSTRN	CpG island
ENSG00000128928	Chromatin interaction
ENSG00000259714	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000261374	Chromatin interaction
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1048163	1.00[JPT][hapmap]
rs11541642	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11557072	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11636097	1.00[JPT][hapmap]
rs11636147	1.00[JPT][hapmap]
rs11638662	1.00[JPT][hapmap]
rs11858714	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16970709	1.00[JPT][hapmap]
rs16970758	1.00[JPT][hapmap]
rs17671194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17671250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17672041	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018127	1.00[JPT][hapmap]
rs2053973	1.00[JPT][hapmap]
rs2289327	1.00[JPT][hapmap]
rs34088794	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803358	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55788133	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55944373	1.00[AFR][1000 genomes]
rs55982218	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56044352	1.00[AFR][1000 genomes]
rs56190115	1.00[AFR][1000 genomes]
rs56334337	1.00[AFR][1000 genomes]
rs679882	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7164132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164321	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172000	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8026523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8027487	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033303	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8033938	1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8037207	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8040419	1.00[JPT][hapmap]
rs8040755	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs900054	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs17733008	KNSTRN	cis	Heart Left Ventricle	GTEx
rs17733008	C15orf23	cis	multi-tissue	Pritchard
rs17733008	IVD	cis	Thyroid	GTEx
rs17733008	KNSTRN	cis	Artery Tibial	GTEx
rs17733008	KNSTRN	cis	lung	GTEx
rs17733008	KNSTRN	cis	Muscle Skeletal	GTEx
rs17733008	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs17733008	KNSTRN	cis	Nerve Tibial	GTEx
rs17733008	IVD	cis	Esophagus Muscularis	GTEx
rs17733008	IVD	cis	Nerve Tibial	GTEx
rs17733008	IVD	cis	Esophagus Mucosa	GTEx
rs17733008	KNSTRN	cis	Artery Aorta	GTEx
rs17733008	KNSTRN	cis	Whole Blood	GTEx
rs17733008	IVD	cis	Artery Tibial	GTEx
rs17733008	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs17733008	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs17733008	IVD	cis	lung	GTEx
rs17733008	KNSTRN	cis	Esophagus Mucosa	GTEx
rs17733008	KNSTRN	cis	Esophagus Muscularis	GTEx
rs17733008	C15orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40672600-40675000	Weak transcription	HUVEC	blood vessel
2	chr15:40674200-40675000	Enhancers	Right Ventricle	heart
3	chr15:40674200-40675200	Enhancers	Lung	lung
4	chr15:40674600-40675000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:40674600-40675000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:40674600-40675000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:40674600-40675000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:40674600-40675000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:40674600-40675000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr15:40674600-40675000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:40674600-40675000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:40674600-40675000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr15:40674600-40675000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr15:40674600-40675000	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr15:40674600-40675000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr15:40674600-40675000	Enhancers	Fetal Heart	heart
17	chr15:40674600-40675000	Enhancers	Placenta	Placenta
18	chr15:40674600-40675000	Enhancers	Thymus	Thymus
19	chr15:40674600-40675000	Flanking Active TSS	Dnd41	blood
20	chr15:40674600-40675000	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr15:40674600-40675000	Flanking Active TSS	K562	blood
22	chr15:40674600-40675000	Flanking Active TSS	Osteobl	bone
23	chr15:40674600-40675200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:40674600-40675400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:40674600-40675400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:40674600-40675400	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:40674600-40675600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:40674600-40675600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr15:40674600-40676200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr15:40674800-40675000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:40674800-40675000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:40674800-40675000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr15:40674800-40675000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40674800-40675000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:40674800-40675000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:40674800-40675000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:40674800-40675000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr15:40674800-40675000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr15:40674800-40675000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr15:40674800-40675000	Enhancers	Primary B cells from peripheral blood	blood
41	chr15:40674800-40675000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr15:40674800-40675000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:40674800-40675000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:40674800-40675000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr15:40674800-40675000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:40674800-40675000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr15:40674800-40675000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:40674800-40675000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr15:40674800-40675000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr15:40674800-40675000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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