Variant report

Variant	rs558043524
Chromosome Location	chr19:18530256-18530257
allele	C/G
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	chr19:18530240-18530390	GM12865	blood:	n/a	n/a
2	CTCF	chr19:18530099-18530425	K562	blood:	n/a	n/a
3	CTCF	chr19:18530240-18530390	HCM	heart:	n/a	n/a
4	EP300	chr19:18529958-18530402	T-47D	breast:	n/a	chr19:18530346-18530362 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530151-18530160
5	CTCF	chr19:18530240-18530390	HA-sp	spinal cord:	n/a	n/a
6	RAD21	chr19:18530014-18530426	SK-N-SH_RA	brain:	n/a	n/a
7	RCOR1	chr19:18529709-18530326	K562	blood:	n/a	n/a
8	HDAC2	chr19:18529489-18530463	HepG2	liver:	n/a	chr19:18530235-18530249
9	JUND	chr19:18530005-18530380	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELF1	chr19:18530044-18530381	HepG2	liver:	n/a	chr19:18530255-18530267 chr19:18530142-18530154 chr19:18530261-18530273
11	EP300	chr19:18529940-18530413	SK-N-SH_RA	brain:	n/a	chr19:18530346-18530362 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530151-18530160
12	CTCF	chr19:18529978-18530518	K562	blood:	n/a	n/a
13	MAZ	chr19:18529597-18531407	IMR90	lung:	n/a	chr19:18529634-18529643
14	POLR2A	chr19:18529695-18530595	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:18529823-18530617	HCT-116	colon:	n/a	n/a
16	CTCF	chr19:18530104-18530494	IMR90	lung:	n/a	n/a
17	POLR2A	chr19:18529556-18531174	HepG2	liver:	n/a	n/a
18	ZBTB33	chr19:18529901-18531124	SK-N-SH	brain:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
19	TBL1XR1	chr19:18529815-18530395	K562	blood:	n/a	n/a
20	YY1	chr19:18529810-18530679	K562	blood:	n/a	chr19:18530437-18530446 chr19:18530405-18530419 chr19:18530438-18530449 chr19:18530431-18530445 chr19:18530255-18530269 chr19:18530410-18530419 chr19:18530434-18530448 chr19:18530402-18530416 chr19:18530142-18530156 chr19:18530440-18530449 chr19:18530532-18530541
21	MAX	chr19:18529688-18530803	A549	lung:	n/a	n/a
22	CTCF	chr19:18530141-18530431	T-47D	breast:	n/a	n/a
23	STAT1	chr19:18529899-18530410	K562	blood:	n/a	chr19:18530210-18530219 chr19:18530209-18530218 chr19:18530204-18530224 chr19:18530204-18530224 chr19:18530236-18530244 chr19:18530210-18530218 chr19:18530208-18530219
24	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr19:18529931-18531283	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr19:18530220-18530370	GM12873	blood:	n/a	n/a
27	CTCF	chr19:18530025-18530522	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr19:18529821-18530397	HepG2	liver:	n/a	n/a
29	MYC	chr19:18529680-18530744	MCF-7	breast:	n/a	n/a
30	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
31	POLR2A	chr19:18530085-18530400	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr19:18530220-18530370	GM12874	blood:	n/a	n/a
33	CTCF	chr19:18530220-18530370	GM12865	blood:	n/a	n/a
34	SP1	chr19:18529626-18530442	A549	lung:	n/a	chr19:18530253-18530266 chr19:18530130-18530137
35	CTCF	chr19:18530220-18530370	GM12875	blood:	n/a	n/a
36	CTCF	chr19:18530220-18530370	SAEC	small airway:	n/a	n/a
37	CTCF	chr19:18530217-18530369	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr19:18530220-18530370	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr19:18530216-18530405	MCF-7	breast:	n/a	n/a
40	ZNF384	chr19:18529850-18530422	K562	blood:	n/a	n/a
41	JUND	chr19:18529909-18530458	A549	lung:	n/a	n/a
42	ZBTB33	chr19:18530007-18530420	HCT-116	colon:	n/a	n/a
43	POLR2A	chr19:18530115-18530649	A549	lung:	n/a	n/a
44	TAF1	chr19:18529989-18530357	GM12878	blood:	n/a	n/a
45	EP300	chr19:18530016-18530342	GM12878	blood:	n/a	chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530151-18530160
46	TAF1	chr19:18529988-18530345	PFSK-1	brain:	n/a	n/a
47	CTCF	chr19:18530214-18530416	H1-hESC	embryonic stem cell:	n/a	n/a
48	NRF1	chr19:18529568-18530463	SK-N-SH	brain:	n/a	chr19:18530372-18530381 chr19:18530151-18530160 chr19:18530083-18530094 chr19:18530114-18530125
49	RCOR1	chr19:18529173-18530395	K562	blood:	n/a	n/a
50	SIN3AK20	chr19:18529843-18530641	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18530207-18530257	GM12878	blood:	n/a
2	chr19:18530207-18530257	A549	lung:	n/a
3	chr19:18530207-18530257	HRE	kidney:	n/a
4	chr19:18530207-18530257	LNCaP	prostate:	n/a
5	chr19:18530207-18530257	AoSMC	blood vessel:	n/a
6	chr19:18530207-18530257	RPTEC	kidney:	n/a
7	chr19:18530207-18530257	HAEpiC	amniotic membrane:	n/a
8	chr19:18530207-18530257	BE2_C	brain:	n/a
9	chr19:18530207-18530257	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:18530207-18530257	IMR90	lung:	fetal
11	chr19:18530207-18530257	AG09319	gingival:	n/a
12	chr19:18530207-18530257	SK-N-SH_RA	brain:	n/a
13	chr19:18530207-18530257	T-47D	breast:	n/a
14	chr19:18530207-18530257	CMK	blood:	n/a
15	chr19:18530207-18530257	HRCEpiC	kidney:	n/a
16	chr19:18530207-18530257	HCPEpiC	choroid plexus:	n/a
17	chr19:18530207-18530257	Hepatocyte	liver:	n/a
18	chr19:18530207-18530257	AG04450	lung:	fetal
19	chr19:18530207-18530257	AG10803	skin:	n/a
20	chr19:18530207-18530257	SK-N-MC	brain:	n/a
21	chr19:18530207-18530257	HRPEpiC	eye:	n/a
22	chr19:18530207-18530257	GM12892	blood:	n/a
23	chr19:18530207-18530257	HIPEpiC	eye:	n/a
24	chr19:18530207-18530257	SKMC	muscle:	n/a
25	chr19:18530207-18530257	HEEpiC	esophagus:	n/a
26	chr19:18530207-18530257	H1-hESC	embryonic stem cell:	embryo
27	chr19:18530207-18530257	AG09309	skin:	n/a
28	chr19:18530207-18530257	ProgFib	skin:	n/a
29	chr19:18530207-18530257	U87	brain:	n/a
30	chr19:18530207-18530257	HNPCEpiC	eye:	n/a
31	chr19:18530207-18530257	K562	blood:	n/a
32	chr19:18530207-18530257	ECC-1	luminal epithelium:	n/a
33	chr19:18530207-18530257	HMEC	breast:	n/a
34	chr19:18530207-18530257	NB4	blood:	n/a
35	chr19:18530207-18530257	NHDF-neo	bronchial:	n/a
36	chr19:18530207-18530257	NHBE	bronchial:	n/a
37	chr19:18530207-18530257	HCT-116	colon:	n/a
38	chr19:18530207-18530257	PFSK-1	brain:	n/a
39	chr19:18530207-18530257	PANC-1	pancreas:	n/a
40	chr19:18530207-18530257	NH-A	brain:	n/a
41	chr19:18530207-18530257	GM12891	blood:	n/a
42	chr19:18530207-18530257	NT2-D1	testis:	n/a
43	chr19:18530207-18530257	SAEC	small airway:	n/a
44	chr19:18530207-18530257	AG04449	skin:	fetal
45	chr19:18530207-18530257	MCF-7	breast:	n/a
46	chr19:18530207-18530257	Caco-2	colon:	n/a
47	chr19:18530207-18530257	GM06990	blood:	n/a
48	chr19:18530207-18530257	HCF	heart:	n/a
49	chr19:18530207-18530257	HUVEC	blood vessel:	n/a
50	chr19:18530207-18530257	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
4	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
5	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
6	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
7	chr19:18530114..18532262-chr19:18631255..18634040,2	MCF-7	breast:
8	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
9	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
10	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
11	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
12	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
13	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
14	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
15	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
SSBP4	CpG island
ENSG00000130518	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv3399036	chr19:18529177-18531725	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	esv3391441	chr19:18529402-18531925	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:18528400-18530400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr19:18528800-18530600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:18529600-18532000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:18529800-18530600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:18529800-18531000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:18529800-18531200	Active TSS	Aorta	Aorta
8	chr19:18529800-18531400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:18529800-18531600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:18530000-18530400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:18530000-18530600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:18530000-18530600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:18530000-18530600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:18530000-18530600	Enhancers	Primary hematopoietic stem cells	blood
15	chr19:18530000-18530600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:18530000-18530600	Active TSS	Pancreas	Pancrea
17	chr19:18530000-18530600	Active TSS	Psoas Muscle	Psoas
18	chr19:18530000-18530600	Active TSS	Right Ventricle	heart
19	chr19:18530000-18530600	Active TSS	Stomach Smooth Muscle	stomach
20	chr19:18530000-18530600	Active TSS	HMEC	breast
21	chr19:18530000-18530600	Active TSS	NH-A	brain
22	chr19:18530000-18530600	Weak transcription	NHDF-Ad	bronchial
23	chr19:18530000-18530800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr19:18530000-18530800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:18530000-18530800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:18530000-18530800	Enhancers	Primary B cells from cord blood	blood
27	chr19:18530000-18530800	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
28	chr19:18530000-18530800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:18530000-18530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:18530000-18530800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:18530000-18530800	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:18530000-18530800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:18530000-18530800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:18530000-18530800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:18530000-18530800	Active TSS	Adipose Nuclei	Adipose
36	chr19:18530000-18530800	Active TSS	Brain Anterior Caudate	brain
37	chr19:18530000-18530800	Active TSS	Brain Germinal Matrix	brain
38	chr19:18530000-18530800	Active TSS	Esophagus	oesophagus
39	chr19:18530000-18530800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr19:18530000-18530800	Weak transcription	Fetal Kidney	kidney
41	chr19:18530000-18530800	Active TSS	Fetal Muscle Trunk	muscle
42	chr19:18530000-18530800	Active TSS	Fetal Muscle Leg	muscle
43	chr19:18530000-18530800	Active TSS	Placenta	Placenta
44	chr19:18530000-18530800	Active TSS	Fetal Thymus	thymus
45	chr19:18530000-18530800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:18530000-18530800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:18530000-18530800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:18530000-18530800	Active TSS	NHEK	skin
49	chr19:18530000-18531000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:18530000-18531000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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