Variant report

Variant	rs17707032
Chromosome Location	chr18:44335147-44335148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:44335066-44335281	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr18:44335100-44335250	HBMEC	blood vessel:	n/a	n/a
3	REST	chr18:44335025-44335247	PFSK-1	brain:	n/a	chr18:44335159-44335168
4	CTCF	chr18:44335060-44335210	HPF	lung:	n/a	n/a
5	CTCF	chr18:44335060-44335210	HepG2	liver:	n/a	n/a
6	CTCF	chr18:44335060-44335210	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr18:44335136-44335244	Medullo	brain:	n/a	n/a
8	CTCF	chr18:44335100-44335250	HMF	breast:	n/a	n/a
9	CTCF	chr18:44335080-44335230	HPAF	blood vessel:	n/a	n/a
10	REST	chr18:44335023-44335225	K562	blood:	n/a	chr18:44335159-44335168
11	CTCF	chr18:44335120-44335270	AG09319	gingival:	n/a	n/a
12	CTCF	chr18:44335040-44335190	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr18:44334955-44335270	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr18:44335100-44335250	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr18:44335120-44335241	NHEK	skin:	n/a	n/a
16	RAD21	chr18:44335038-44335218	HepG2	liver:	n/a	chr18:44335049-44335063
17	CTCF	chr18:44335060-44335210	HA-sp	spinal cord:	n/a	n/a
18	REST	chr18:44334995-44335271	H1-hESC	embryonic stem cell:	n/a	chr18:44335159-44335168
19	CTCF	chr18:44335000-44335150	GM12864	blood:	n/a	n/a
20	RAD21	chr18:44334865-44335371	H1-hESC	embryonic stem cell:	n/a	chr18:44335049-44335063
21	CTCF	chr18:44335140-44335290	GM12871	blood:	n/a	n/a
22	RAD21	chr18:44335016-44335296	H1-hESC	embryonic stem cell:	n/a	chr18:44335049-44335063
23	CTCF	chr18:44335140-44335290	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr18:44335012-44335259	K562	blood:	n/a	n/a
25	CTCF	chr18:44335080-44335230	GM12874	blood:	n/a	n/a
26	CTCF	chr18:44335060-44335210	GM12872	blood:	n/a	n/a
27	SIN3A	chr18:44334888-44335257	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr18:44335080-44335230	GM06990	blood:	n/a	n/a
29	CTCF	chr18:44335100-44335250	HRE	kidney:	n/a	n/a
30	CTCF	chr18:44335123-44335226	GM12892	blood:	n/a	n/a
31	CTCF	chr18:44335080-44335230	HCM	heart:	n/a	n/a
32	CTCF	chr18:44335120-44335270	SAEC	small airway:	n/a	n/a
33	CTCF	chr18:44335056-44335221	HepG2	liver:	n/a	n/a
34	CTCF	chr18:44335120-44335270	GM12869	blood:	n/a	n/a
35	CTCF	chr18:44335061-44335262	K562	blood:	n/a	n/a
36	CTCF	chr18:44335060-44335210	HAc	cerebellar:	n/a	n/a
37	CTCF	chr18:44335100-44335250	GM12874	blood:	n/a	n/a
38	CTCF	chr18:44335080-44335230	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr18:44335103-44335238	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr18:44335080-44335230	GM12866	blood:	n/a	n/a
41	CTCF	chr18:44334998-44335312	K562	blood:	n/a	n/a
42	REST	chr18:44334955-44335265	H1-hESC	embryonic stem cell:	n/a	chr18:44335159-44335168
43	CTCF	chr18:44335060-44335210	K562	blood:	n/a	n/a
44	RAD21	chr18:44335064-44335223	K562	blood:	n/a	n/a
45	CTCF	chr18:44335005-44335335	K562	blood:	n/a	n/a
46	BACH1	chr18:44335079-44335249	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:44335020-44335170	HAc	cerebellar:	n/a	n/a
48	CTCF	chr18:44335100-44335350	AG04450	lung:	n/a	n/a
49	CTCF	chr18:44335080-44335230	GM12872	blood:	n/a	n/a
50	CTCF	chr18:44335123-44335207	GM13977	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44335109-44335159	RPTEC	kidney:	n/a
2	chr18:44335109-44335159	SKMC	muscle:	n/a
3	chr18:44335109-44335159	HMEC	breast:	n/a
4	chr18:44335109-44335159	ProgFib	skin:	n/a
5	chr18:44335109-44335159	PANC-1	pancreas:	n/a
6	chr18:44335109-44335159	K562	blood:	n/a
7	chr18:44335109-44335159	NT2-D1	testis:	n/a
8	chr18:44335109-44335159	BJ	skin:	n/a
9	chr18:44335109-44335159	SK-N-SH	brain:	n/a
10	chr18:44335109-44335159	HepG2	liver:	n/a
11	chr18:44335109-44335159	MCF-7	breast:	n/a
12	chr18:44335109-44335159	HEK293	kidney:	embryo
13	chr18:44335109-44335159	GM12878	blood:	n/a
14	chr18:44335109-44335159	HL-60	blood:	n/a
15	chr18:44335109-44335159	HUVEC	blood vessel:	n/a
16	chr18:44335109-44335159	HRPEpiC	eye:	n/a
17	chr18:44335109-44335159	IMR90	lung:	fetal
18	chr18:44335109-44335159	Caco-2	colon:	n/a
19	chr18:44335109-44335159	HCT-116	colon:	n/a
20	chr18:44335109-44335159	Hela-S3	cervix:	n/a
21	chr18:44335109-44335159	GM12892	blood:	n/a
22	chr18:44335109-44335159	GM12891	blood:	n/a
23	chr18:44335109-44335159	HRCEpiC	kidney:	n/a
24	chr18:44335109-44335159	NH-A	brain:	n/a
25	chr18:44335109-44335159	ovcar-3	ovarian:	n/a
26	chr18:44335109-44335159	HRE	kidney:	n/a
27	chr18:44335109-44335159	PrEC	prostate:	n/a
28	chr18:44335109-44335159	T-47D	breast:	n/a
29	chr18:44335109-44335159	HCF	heart:	n/a
30	chr18:44335109-44335159	AoSMC	blood vessel:	n/a
31	chr18:44335109-44335159	SK-N-SH_RA	brain:	n/a
32	chr18:44335109-44335159	NHBE	bronchial:	n/a
33	chr18:44335109-44335159	HCPEpiC	choroid plexus:	n/a
34	chr18:44335109-44335159	NB4	blood:	n/a
35	chr18:44335109-44335159	HEEpiC	esophagus:	n/a
36	chr18:44335109-44335159	HPAEpiC	pulmonary alveolar:	n/a
37	chr18:44335109-44335159	SAEC	small airway:	n/a
38	chr18:44335109-44335159	AG09309	skin:	n/a
39	chr18:44335109-44335159	SK-N-MC	brain:	n/a
40	chr18:44335109-44335159	ECC-1	luminal epithelium:	n/a
41	chr18:44335109-44335159	AG10803	skin:	n/a
42	chr18:44335109-44335159	MCF10A-Er-Src	breast:	n/a
43	chr18:44335109-44335159	A549	lung:	n/a
44	chr18:44335109-44335159	PFSK-1	brain:	n/a
45	chr18:44335109-44335159	HAEpiC	amniotic membrane:	n/a
46	chr18:44335109-44335159	GM19239	blood:	n/a
47	chr18:44335109-44335159	GM06990	blood:	n/a
48	chr18:44335109-44335159	LNCaP	prostate:	n/a
49	chr18:44335109-44335159	CMK	blood:	n/a
50	chr18:44335109-44335159	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000270112	TF binding region
ENSG00000270112	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17707231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17779802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779820	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs57623379	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62097222	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv909603	chr18:44300281-44335724	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17707032	ST8SIA5	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44333600-44337400	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr18:44333800-44335800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr18:44334000-44335200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44334000-44335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44334200-44335600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:44334200-44335800	Enhancers	Primary B cells from peripheral blood	blood
7	chr18:44334200-44336200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr18:44334200-44337800	Active TSS	Brain Angular Gyrus	brain
9	chr18:44334400-44335200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:44334400-44335200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr18:44334400-44335800	Enhancers	Fetal Heart	heart
12	chr18:44334400-44335800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr18:44334400-44336400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr18:44334400-44338000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr18:44334400-44338400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:44334600-44335200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr18:44334600-44335200	Active TSS	Brain Cingulate Gyrus	brain
18	chr18:44334600-44335400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr18:44334600-44335400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr18:44334600-44335600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr18:44334600-44335800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr18:44334600-44336000	Active TSS	Brain Germinal Matrix	brain
23	chr18:44334600-44336200	Enhancers	Spleen	Spleen
24	chr18:44334800-44335200	Enhancers	Primary hematopoietic stem cells	blood
25	chr18:44334800-44335200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:44334800-44335200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr18:44334800-44335800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr18:44334800-44335800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr18:44334800-44335800	Enhancers	Left Ventricle	heart
30	chr18:44334800-44335800	Weak transcription	Psoas Muscle	Psoas
31	chr18:44334800-44335800	Enhancers	GM12878-XiMat	blood
32	chr18:44335000-44335200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:44335000-44335200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr18:44335000-44335200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr18:44335000-44335400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr18:44335000-44336000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:44335000-44336000	Bivalent Enhancer	Fetal Stomach	stomach
38	chr18:44335000-44337600	Active TSS	Right Atrium	heart
39	chr18:44335000-44337800	Active TSS	HSMMtube	muscle

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