Variant report

Variant	rs28485917
Chromosome Location	chr19:18530494-18530495
allele	C/T
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	chr19:18529978-18530518	K562	blood:	n/a	n/a
2	MAZ	chr19:18529597-18531407	IMR90	lung:	n/a	chr19:18529634-18529643
3	POLR2A	chr19:18529695-18530595	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:18529823-18530617	HCT-116	colon:	n/a	n/a
5	CTCF	chr19:18530104-18530494	IMR90	lung:	n/a	n/a
6	POLR2A	chr19:18529556-18531174	HepG2	liver:	n/a	n/a
7	ZBTB33	chr19:18529901-18531124	SK-N-SH	brain:	n/a	chr19:18530692-18530707 chr19:18530849-18530859 chr19:18530770-18530780
8	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
9	MAX	chr19:18529688-18530803	A549	lung:	n/a	n/a
10	POLR2A	chr19:18529931-18531283	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr19:18530025-18530522	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr19:18529680-18530744	MCF-7	breast:	n/a	n/a
13	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
14	POLR2A	chr19:18530115-18530649	A549	lung:	n/a	n/a
15	SIN3AK20	chr19:18529843-18530641	K562	blood:	n/a	n/a
16	YY1	chr19:18529980-18530516	GM12891	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
17	CREB1	chr19:18529848-18530509	A549	lung:	n/a	n/a
18	PAX5	chr19:18529871-18530837	GM12892	blood:	n/a	chr19:18530808-18530817
19	MYC	chr19:18527031-18531008	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
20	YY1	chr19:18529852-18530505	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
21	CTCF	chr19:18530155-18530499	Spleen_OC	spleen:	n/a	n/a
22	MXI1	chr19:18530014-18530580	Hela-S3	cervix:	n/a	chr19:18530381-18530396
23	SIN3AK20	chr19:18529899-18531066	SK-N-SH	brain:	n/a	n/a
24	EP300	chr19:18529872-18530547	ECC-1	luminal epithelium:	n/a	chr19:18530346-18530362 chr19:18530439-18530448 chr19:18530436-18530445 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530410-18530419 chr19:18530151-18530160
25	E2F1	chr19:18529895-18530881	Hela-S3	cervix:	n/a	chr19:18530816-18530823 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
26	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
27	MAX	chr19:18529749-18531238	HepG2	liver:	n/a	n/a
28	CTCF	chr19:18530110-18530517	K562	blood:	n/a	n/a
29	MXI1	chr19:18529605-18531473	IMR90	lung:	n/a	chr19:18530381-18530396
30	CTCF	chr19:18529899-18530615	K562	blood:	n/a	n/a
31	POLR2A	chr19:18529477-18530764	MCF-7	breast:	n/a	n/a
32	MAX	chr19:18529576-18530608	Hela-S3	cervix:	n/a	chr19:18529634-18529643
33	EP300	chr19:18529651-18531514	SK-N-SH	brain:	n/a	chr19:18530346-18530362 chr19:18531046-18531062 chr19:18530439-18530448 chr19:18531010-18531026 chr19:18530436-18530445 chr19:18530255-18530271 chr19:18530143-18530159 chr19:18530142-18530158 chr19:18530410-18530419 chr19:18530151-18530160
34	MXI1	chr19:18529969-18531232	HepG2	liver:	n/a	chr19:18530381-18530396
35	MAX	chr19:18529315-18530648	H1-hESC	embryonic stem cell:	n/a	chr19:18529634-18529643
36	POLR2A	chr19:18530133-18530634	A549	lung:	n/a	n/a
37	SIN3AK20	chr19:18530161-18530517	HepG2	liver:	n/a	n/a
38	TAF1	chr19:18529811-18531260	HepG2	liver:	n/a	n/a
39	MAX	chr19:18529177-18531013	ECC-1	luminal epithelium:	n/a	chr19:18529211-18529221 chr19:18529634-18529643
40	HMGN3	chr19:18529390-18531020	K562	blood:	n/a	n/a
41	POLR2A	chr19:18529881-18531097	GM19193	blood:	n/a	n/a
42	RAD21	chr19:18529851-18530566	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr19:18529217-18531474	HepG2	liver:	n/a	chr19:18529634-18529643
44	POLR2A	chr19:18529941-18530572	GM15510	blood:	n/a	n/a
45	CHD2	chr19:18529474-18531203	K562	blood:	n/a	n/a
46	E2F6	chr19:18529346-18531198	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18530814-18530824
47	POLR2A	chr19:18529636-18530744	PANC-1	pancreas:	n/a	n/a
48	MAX	chr19:18529572-18530718	K562	blood:	n/a	chr19:18529634-18529643
49	E2F6	chr19:18527005-18531166	K562	blood:	n/a	chr19:18530816-18530823 chr19:18531019-18531028 chr19:18530844-18530853 chr19:18530815-18530823 chr19:18528989-18528998 chr19:18527812-18527824 chr19:18530435-18530445 chr19:18530816-18530823 chr19:18530532-18530541 chr19:18528562-18528577 chr19:18529641-18529655 chr19:18530810-18530819 chr19:18528660-18528672 chr19:18530815-18530823 chr19:18530815-18530824 chr19:18529646-18529655 chr19:18530816-18530823 chr19:18530813-18530824 chr19:18530505-18530520 chr19:18530438-18530448 chr19:18527824-18527833 chr19:18528591-18528600 chr19:18530814-18530824 chr19:18528688-18528697
50	GABPA	chr19:18529367-18530571	K562	blood:	n/a	chr19:18530532-18530541 chr19:18530372-18530381 chr19:18530151-18530160

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	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
10	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
11	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
12	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
13	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
14	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
15	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000267959	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130518	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11574811	1.00[EUR][1000 genomes]
rs28644183	1.00[EUR][1000 genomes]
rs28750484	1.00[EUR][1000 genomes]
rs41292105	1.00[EUR][1000 genomes]
rs59449632	1.00[EUR][1000 genomes]
rs61758313	1.00[EUR][1000 genomes]
rs6512273	1.00[EUR][1000 genomes]
rs7248433	1.00[EUR][1000 genomes]
rs7251065	1.00[EUR][1000 genomes]
rs7251764	1.00[EUR][1000 genomes]
rs7257862	1.00[EUR][1000 genomes]
rs73527474	1.00[EUR][1000 genomes]
rs73529531	1.00[EUR][1000 genomes]
rs8103468	1.00[EUR][1000 genomes]
rs8104320	1.00[EUR][1000 genomes]
rs8104439	1.00[EUR][1000 genomes]
rs8108720	1.00[EUR][1000 genomes]

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	chr19:18528800-18530600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:18529600-18532000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:18529800-18530600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:18529800-18531000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:18529800-18531200	Active TSS	Aorta	Aorta
7	chr19:18529800-18531400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:18529800-18531600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:18530000-18530600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:18530000-18530600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:18530000-18530600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
12	chr19:18530000-18530600	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:18530000-18530600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:18530000-18530600	Active TSS	Pancreas	Pancrea
15	chr19:18530000-18530600	Active TSS	Psoas Muscle	Psoas
16	chr19:18530000-18530600	Active TSS	Right Ventricle	heart
17	chr19:18530000-18530600	Active TSS	Stomach Smooth Muscle	stomach
18	chr19:18530000-18530600	Active TSS	HMEC	breast
19	chr19:18530000-18530600	Active TSS	NH-A	brain
20	chr19:18530000-18530600	Weak transcription	NHDF-Ad	bronchial
21	chr19:18530000-18530800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr19:18530000-18530800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr19:18530000-18530800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:18530000-18530800	Enhancers	Primary B cells from cord blood	blood
25	chr19:18530000-18530800	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
26	chr19:18530000-18530800	Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:18530000-18530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:18530000-18530800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:18530000-18530800	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr19:18530000-18530800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:18530000-18530800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:18530000-18530800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18530000-18530800	Active TSS	Adipose Nuclei	Adipose
34	chr19:18530000-18530800	Active TSS	Brain Anterior Caudate	brain
35	chr19:18530000-18530800	Active TSS	Brain Germinal Matrix	brain
36	chr19:18530000-18530800	Active TSS	Esophagus	oesophagus
37	chr19:18530000-18530800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr19:18530000-18530800	Weak transcription	Fetal Kidney	kidney
39	chr19:18530000-18530800	Active TSS	Fetal Muscle Trunk	muscle
40	chr19:18530000-18530800	Active TSS	Fetal Muscle Leg	muscle
41	chr19:18530000-18530800	Active TSS	Placenta	Placenta
42	chr19:18530000-18530800	Active TSS	Fetal Thymus	thymus
43	chr19:18530000-18530800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr19:18530000-18530800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr19:18530000-18530800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr19:18530000-18530800	Active TSS	NHEK	skin
47	chr19:18530000-18531000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:18530000-18531000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:18530000-18531000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:18530000-18531000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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