Variant report

Variant	rs17719240
Chromosome Location	chr19:35818831-35818832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35818664-35818890	GM12878	blood:	n/a	n/a
2	SMC3	chr19:35818586-35818918	HepG2	liver:	n/a	n/a
3	CTCF	chr19:35818616-35818925	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:35818680-35818970	A549	lung:	n/a	n/a
5	BHLHE40	chr19:35818640-35818858	K562	blood:	n/a	n/a
6	ZNF384	chr19:35818650-35818850	K562	blood:	n/a	n/a
7	CTCF	chr19:35818720-35818870	GM12873	blood:	n/a	n/a
8	CTCF	chr19:35818700-35818850	HEEpiC	esophagus:	n/a	n/a
9	RAD21	chr19:35818546-35819014	MCF-7	breast:	n/a	n/a
10	ATF1	chr19:35818599-35818885	K562	blood:	n/a	n/a
11	CTCF	chr19:35818700-35818850	HAc	cerebellar:	n/a	n/a
12	CTCF	chr19:35818671-35818907	HepG2	liver:	n/a	n/a
13	CTCF	chr19:35818740-35818890	GM12873	blood:	n/a	n/a
14	MAZ	chr19:35818586-35818922	K562	blood:	n/a	n/a
15	RAD21	chr19:35818518-35818921	HepG2	liver:	n/a	n/a
16	CTCF	chr19:35818700-35818850	GM12864	blood:	n/a	n/a
17	CTCF	chr19:35818760-35818910	WI-38	lung:	n/a	n/a
18	CTCF	chr19:35818655-35818863	GM10248	blood:	n/a	n/a
19	RAD21	chr19:35818530-35818940	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:35818720-35818870	GM12864	blood:	n/a	n/a
21	CTCF	chr19:35818720-35818870	RPTEC	kidney:	n/a	n/a
22	CTCF	chr19:35818458-35819094	K562	blood:	n/a	n/a
23	CTCF	chr19:35818720-35818870	HVMF	connective:	n/a	n/a
24	CTCF	chr19:35818700-35818850	HEK293	kidney:	n/a	n/a
25	JUND	chr19:35818590-35818916	K562	blood:	n/a	n/a
26	CTCF	chr19:35818720-35818870	GM12867	blood:	n/a	n/a
27	CTCF	chr19:35818700-35818850	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr19:35818700-35818850	HepG2	liver:	n/a	n/a
29	CTCF	chr19:35818740-35818890	GM12869	blood:	n/a	n/a
30	CTCF	chr19:35818650-35818860	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr19:35818617-35818874	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr19:35818629-35818937	A549	lung:	n/a	n/a
33	SMC3	chr19:35818623-35818900	K562	blood:	n/a	n/a
34	CTCF	chr19:35818639-35818915	GM19239	blood:	n/a	n/a
35	E2F6	chr19:35818671-35818839	K562	blood:	n/a	n/a
36	CTCF	chr19:35818541-35818874	HepG2	liver:	n/a	n/a
37	CTCF	chr19:35818720-35818870	HRE	kidney:	n/a	n/a
38	CTCF	chr19:35818670-35818882	GM12891	blood:	n/a	n/a
39	CTCF	chr19:35818662-35818889	Gliobla	brain:	n/a	n/a
40	CTCF	chr19:35818720-35818870	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr19:35818677-35818849	GM20000	blood:	n/a	n/a
42	CTCF	chr19:35818694-35818861	GM13977	blood:	n/a	n/a
43	CTCF	chr19:35818760-35818910	GM12872	blood:	n/a	n/a
44	CTCF	chr19:35818641-35818896	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:35818700-35818850	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:35818666-35818883	A549	lung:	n/a	n/a
47	RAD21	chr19:35818632-35818860	K562	blood:	n/a	n/a
48	CTCF	chr19:35818555-35819051	MCF-7	breast:	n/a	n/a
49	RCOR1	chr19:35818738-35818927	Hela-S3	cervix:	n/a	n/a
50	SRF	chr19:35818640-35818890	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35818807-35818857	AG09309	skin:	n/a
2	chr19:35818807-35818857	HCT-116	colon:	n/a
3	chr19:35818807-35818857	HL-60	blood:	n/a
4	chr19:35818807-35818857	ovcar-3	ovarian:	n/a
5	chr19:35818807-35818857	AG04449	skin:	fetal
6	chr19:35818807-35818857	RPTEC	kidney:	n/a
7	chr19:35818807-35818857	GM12878	blood:	n/a
8	chr19:35818807-35818857	HIPEpiC	eye:	n/a
9	chr19:35818807-35818857	Hepatocyte	liver:	n/a
10	chr19:35818807-35818857	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:35818807-35818857	HRPEpiC	eye:	n/a
12	chr19:35818807-35818857	HEK293	kidney:	embryo
13	chr19:35818807-35818857	HNPCEpiC	eye:	n/a
14	chr19:35818807-35818857	AG09319	gingival:	n/a
15	chr19:35818807-35818857	PFSK-1	brain:	n/a
16	chr19:35818807-35818857	HAEpiC	amniotic membrane:	n/a
17	chr19:35818807-35818857	GM12891	blood:	n/a
18	chr19:35818807-35818857	H1-hESC	embryonic stem cell:	embryo
19	chr19:35818807-35818857	NT2-D1	testis:	n/a
20	chr19:35818807-35818857	LNCaP	prostate:	n/a
21	chr19:35818807-35818857	SK-N-MC	brain:	n/a
22	chr19:35818807-35818857	NB4	blood:	n/a
23	chr19:35818807-35818857	ECC-1	luminal epithelium:	n/a
24	chr19:35818807-35818857	HUVEC	blood vessel:	n/a
25	chr19:35818807-35818857	NH-A	brain:	n/a
26	chr19:35818807-35818857	K562	blood:	n/a
27	chr19:35818807-35818857	NHBE	bronchial:	n/a
28	chr19:35818807-35818857	HMEC	breast:	n/a
29	chr19:35818807-35818857	IMR90	lung:	fetal
30	chr19:35818807-35818857	ProgFib	skin:	n/a
31	chr19:35818807-35818857	GM06990	blood:	n/a
32	chr19:35818807-35818857	U87	brain:	n/a
33	chr19:35818807-35818857	AG10803	skin:	n/a
34	chr19:35818807-35818857	Jurkat	blood:	n/a
35	chr19:35818807-35818857	SK-N-SH_RA	brain:	n/a
36	chr19:35818807-35818857	HCF	heart:	n/a
37	chr19:35818807-35818857	AoSMC	blood vessel:	n/a
38	chr19:35818807-35818857	GM19239	blood:	n/a
39	chr19:35818807-35818857	NHDF-neo	bronchial:	n/a
40	chr19:35818807-35818857	SK-N-SH	brain:	n/a
41	chr19:35818807-35818857	HCM	heart:	n/a
42	chr19:35818807-35818857	A549	lung:	n/a
43	chr19:35818807-35818857	HCPEpiC	choroid plexus:	n/a
44	chr19:35818807-35818857	HRE	kidney:	n/a
45	chr19:35818807-35818857	BE2_C	brain:	n/a
46	chr19:35818807-35818857	SAEC	small airway:	n/a
47	chr19:35818807-35818857	BJ	skin:	n/a
48	chr19:35818807-35818857	PANC-1	pancreas:	n/a
49	chr19:35818807-35818857	T-47D	breast:	n/a
50	chr19:35818807-35818857	SKMC	muscle:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35814978..35818843-chr19:35819737..35823316,4	K562	blood:
2	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:
3	chr19:35759820..35760630-chr19:35818301..35819272,2	MCF-7	breast:
4	chr19:35757401..35760609-chr19:35817502..35820242,3	MCF-7	breast:

No data

Variant related genes	Relation type
CD22	TF binding region
ENSG00000269553	TF binding region
ENSG00000269553	CpG island
CD22	CpG island
ENSG00000269553	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000105698	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17719289	1.00[CHB][hapmap]
rs17775992	1.00[AFR][1000 genomes]
rs17776004	1.00[AFR][1000 genomes]
rs2301598	1.00[AFR][1000 genomes]
rs58199607	1.00[AFR][1000 genomes]
rs60066162	1.00[AFR][1000 genomes]
rs60182696	1.00[AFR][1000 genomes]
rs61396797	1.00[AFR][1000 genomes]
rs62111372	1.00[AFR][1000 genomes]
rs62111403	1.00[AFR][1000 genomes]
rs73031765	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35811600-35832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35812000-35819600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:35812000-35820000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:35812200-35819400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:35813400-35819800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:35814600-35819600	Enhancers	Primary B cells from cord blood	blood
8	chr19:35815400-35819600	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:35815400-35819800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:35815600-35819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:35816800-35819600	Weak transcription	GM12878-XiMat	blood
12	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
13	chr19:35818000-35819600	Weak transcription	Ovary	ovary
14	chr19:35818000-35820000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:35818000-35820400	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:35818400-35819600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:35818400-35820600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:35818400-35821600	Strong transcription	Brain Substantia Nigra	brain
19	chr19:35818600-35819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:35818800-35819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:35818800-35820000	Weak transcription	Spleen	Spleen
22	chr19:35818800-35821400	Weak transcription	K562	blood
23	chr19:35818800-35823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain

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