Variant report

Variant	rs594689
Chromosome Location	chr11:65635559-65635560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65631446-65639140	PANC-1	pancreas:	n/a	n/a
2	ZNF143	chr11:65635471-65635910	GM12878	blood:	n/a	chr11:65635715-65635733 chr11:65635658-65635673 chr11:65635655-65635674
3	CREB1	chr11:65635224-65635983	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIX5	chr11:65635557-65635861	A549	lung:	n/a	chr11:65635721-65635735
5	SP4	chr11:65634906-65635842	H1-hESC	embryonic stem cell:	n/a	chr11:65635212-65635228
6	SIX5	chr11:65635529-65635854	GM12878	blood:	n/a	chr11:65635721-65635735
7	POLR2A	chr11:65635548-65635941	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:65635317-65638162	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr11:65634978-65636119	H1-hESC	embryonic stem cell:	n/a	chr11:65635224-65635242 chr11:65635715-65635733 chr11:65635658-65635673 chr11:65635655-65635674
10	POLR2A	chr11:65635334-65636746	SK-N-SH	brain:	n/a	n/a
11	HCFC1	chr11:65635342-65636083	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
13	CHD2	chr11:65635516-65635858	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:65633884-65638264	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:65634852-65637658	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:65633594-65637483	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:65633508-65637789	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr11:65635296-65635584	GM12878	blood:	n/a	n/a
19	NFATC1	chr11:65635290-65637674	GM12878	blood:	n/a	n/a
20	TEAD4	chr11:65635516-65635876	K562	blood:	n/a	n/a
21	POLR2A	chr11:65635362-65638657	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65635033-65636746	K562	blood:	n/a	n/a
23	SIX5	chr11:65635369-65636023	A549	lung:	n/a	chr11:65635721-65635735
24	ETS1	chr11:65635516-65635895	A549	lung:	n/a	n/a
25	SIX5	chr11:65635411-65635845	H1-hESC	embryonic stem cell:	n/a	chr11:65635721-65635735
26	POLR2A	chr11:65633724-65638544	PANC-1	pancreas:	n/a	n/a
27	SP1	chr11:65635218-65635788	H1-hESC	embryonic stem cell:	n/a	chr11:65635229-65635239 chr11:65635230-65635244 chr11:65635229-65635238 chr11:65635225-65635239 chr11:65635235-65635244 chr11:65635228-65635240 chr11:65635234-65635244 chr11:65635228-65635240
28	POLR2A	chr11:65634816-65638944	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:65635498-65638874	U87	brain:	n/a	n/a
30	POLR2A	chr11:65633881-65638811	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:65634934-65636645	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:65635383-65635750	GM12891	blood:	n/a	n/a
33	MTA3	chr11:65635445-65638693	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65616706-65640269	U87	brain:	n/a	n/a
35	POLR2A	chr11:65634951-65638207	K562	blood:	n/a	n/a
36	SIX5	chr11:65635539-65635858	GM12878	blood:	n/a	chr11:65635721-65635735
37	POLR2A	chr11:65634139-65637525	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr11:65633895-65636834	K562	blood:	n/a	n/a
39	POLR2A	chr11:65635153-65637940	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:65632391-65638275	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr11:65634890-65636708	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr11:65635247-65635873	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr11:65635436-65635984	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:65633886-65639510	K562	blood:	n/a	n/a
45	POLR2A	chr11:65635516-65637481	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:65635229-65636260	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:65635210-65635845	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:65634161-65638575	HL-60	blood:	n/a	n/a
49	POLR2A	chr11:65635498-65638868	U87	brain:	n/a	n/a
50	HCFC1	chr11:65635518-65635889	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65635512-65635562	HUVEC	blood vessel:	n/a
2	chr11:65635512-65635562	Jurkat	blood:	n/a
3	chr11:65635512-65635562	HL-60	blood:	n/a
4	chr11:65635512-65635562	HEEpiC	esophagus:	n/a
5	chr11:65635512-65635562	IMR90	lung:	fetal
6	chr11:65635512-65635562	HNPCEpiC	eye:	n/a
7	chr11:65635512-65635562	HCPEpiC	choroid plexus:	n/a
8	chr11:65635512-65635562	AoSMC	blood vessel:	n/a
9	chr11:65635512-65635562	CMK	blood:	n/a
10	chr11:65635512-65635562	A549	lung:	n/a
11	chr11:65635512-65635562	Hela-S3	cervix:	n/a
12	chr11:65635512-65635562	AG04449	skin:	fetal
13	chr11:65635512-65635562	HRPEpiC	eye:	n/a
14	chr11:65635512-65635562	GM12892	blood:	n/a
15	chr11:65635512-65635562	SK-N-SH	brain:	n/a
16	chr11:65635512-65635562	HIPEpiC	eye:	n/a
17	chr11:65635512-65635562	Hepatocyte	liver:	n/a
18	chr11:65635512-65635562	HAEpiC	amniotic membrane:	n/a
19	chr11:65635512-65635562	PFSK-1	brain:	n/a
20	chr11:65635512-65635562	NHBE	bronchial:	n/a
21	chr11:65635512-65635562	HCM	heart:	n/a
22	chr11:65635512-65635562	HRE	kidney:	n/a
23	chr11:65635512-65635562	AG10803	skin:	n/a
24	chr11:65635512-65635562	HEK293	kidney:	embryo
25	chr11:65635512-65635562	LNCaP	prostate:	n/a
26	chr11:65635512-65635562	PANC-1	pancreas:	n/a
27	chr11:65635512-65635562	MCF-7	breast:	n/a
28	chr11:65635512-65635562	NT2-D1	testis:	n/a
29	chr11:65635512-65635562	Caco-2	colon:	n/a
30	chr11:65635512-65635562	GM12891	blood:	n/a
31	chr11:65635512-65635562	GM19239	blood:	n/a
32	chr11:65635512-65635562	HMEC	breast:	n/a
33	chr11:65635512-65635562	PrEC	prostate:	n/a
34	chr11:65635512-65635562	HCF	heart:	n/a
35	chr11:65635512-65635562	AG09309	skin:	n/a
36	chr11:65635512-65635562	U87	brain:	n/a
37	chr11:65635512-65635562	MCF10A-Er-Src	breast:	n/a
38	chr11:65635512-65635562	NB4	blood:	n/a
39	chr11:65635512-65635562	SKMC	muscle:	n/a
40	chr11:65635512-65635562	NH-A	brain:	n/a
41	chr11:65635512-65635562	T-47D	breast:	n/a
42	chr11:65635512-65635562	SAEC	small airway:	n/a
43	chr11:65635512-65635562	GM12878	blood:	n/a
44	chr11:65635512-65635562	H1-hESC	embryonic stem cell:	embryo
45	chr11:65635512-65635562	GM06990	blood:	n/a
46	chr11:65635512-65635562	ProgFib	skin:	n/a
47	chr11:65635512-65635562	HepG2	liver:	n/a
48	chr11:65635512-65635562	BE2_C	brain:	n/a
49	chr11:65635512-65635562	SK-N-SH_RA	brain:	n/a
50	chr11:65635512-65635562	RPTEC	kidney:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45283607..45286477-chr11:65634041..65636204,2	K562	blood:
2	chr11:65485320..65488202-chr11:65635523..65638035,2	K562	blood:
3	chr11:65485320..65487599-chr11:65635523..65637223,2	K562	blood:
4	chr11:65402996..65404560-chr11:65635320..65637558,2	K562	blood:
5	chr11:65485991..65487917-chr11:65633915..65636127,2	MCF-7	breast:

No data

Variant related genes	Relation type
EFEMP2	TF binding region
EFEMP2	CpG island
ENSG00000172922	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10750772	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10791827	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896047	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10896051	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10896052	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10896061	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10896064	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227309	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11227311	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11227312	0.87[AMR][1000 genomes]
rs11227318	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11602769	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12575663	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3903072	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs485036	0.81[ASN][1000 genomes]
rs4930320	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4930326	0.88[AMR][1000 genomes]
rs501630	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566266	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs570387	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633800	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs659824	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674126	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7107912	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123155	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs875311	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
13	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs594689	SNX32	cis	Thyroid	GTEx
rs594689	SNX32	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65628800-65639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65629000-65639600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65629400-65638600	Weak transcription	Right Atrium	heart
4	chr11:65629600-65635600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:65629600-65635800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:65629600-65636000	Strong transcription	Thymus	Thymus
7	chr11:65629600-65637400	Strong transcription	Ovary	ovary
8	chr11:65629600-65637600	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr11:65629600-65638000	Strong transcription	Fetal Lung	lung
10	chr11:65629800-65635600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65629800-65636000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65630000-65635800	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:65630000-65635800	Strong transcription	A549	lung
14	chr11:65630000-65636000	Strong transcription	Lung	lung
15	chr11:65630000-65636200	Strong transcription	Left Ventricle	heart
16	chr11:65630000-65637200	Strong transcription	Fetal Intestine Large	intestine
17	chr11:65630000-65637800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:65630000-65637800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr11:65630000-65637800	Strong transcription	Osteobl	bone
20	chr11:65630000-65638200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:65630000-65638400	Strong transcription	Fetal Intestine Small	intestine
22	chr11:65630200-65636200	Strong transcription	NHEK	skin
23	chr11:65630200-65637600	Strong transcription	HSMMtube	muscle
24	chr11:65630400-65636600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr11:65630400-65637200	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:65630600-65635600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:65630600-65637800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65630600-65637800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:65630800-65635800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:65630800-65636000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:65630800-65636600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:65631000-65637000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:65631000-65637000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:65631000-65637400	Strong transcription	Adipose Nuclei	Adipose
35	chr11:65631000-65637400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:65631200-65637600	Strong transcription	Right Ventricle	heart
37	chr11:65631200-65638000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:65631600-65637200	Strong transcription	Spleen	Spleen
39	chr11:65631600-65638000	Strong transcription	HSMM	muscle
40	chr11:65631800-65636200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:65632000-65637800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:65632200-65635600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:65632200-65638000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:65632200-65639400	Weak transcription	Fetal Kidney	kidney
45	chr11:65632800-65635800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:65633000-65638200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:65633000-65639400	Weak transcription	Psoas Muscle	Psoas
48	chr11:65633200-65639200	Weak transcription	Stomach Mucosa	stomach
49	chr11:65633400-65638000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:65633400-65638200	Weak transcription	HUVEC	blood vessel

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