Variant report

Variant	rs369899555
Chromosome Location	chr19:18528211-18528212
allele	A/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	MAX	chr19:18527098-18529165	MCF-7	breast:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
2	POLR2A	chr19:18527106-18528760	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:18527862-18528582	GM12892	blood:	n/a	n/a
4	UBTF	chr19:18527657-18528662	K562	blood:	n/a	n/a
5	POLR2A	chr19:18527049-18529017	K562	blood:	n/a	n/a
6	POLR2A	chr19:18528204-18528665	A549	lung:	n/a	n/a
7	PAX5	chr19:18528059-18528383	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:18528185-18528670	A549	lung:	n/a	n/a
9	SIN3A	chr19:18527700-18528230	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
11	ZBTB7A	chr19:18527543-18528967	K562	blood:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
12	EGR1	chr19:18528161-18529089	K562	blood:	n/a	chr19:18528591-18528601 chr19:18528838-18528852 chr19:18528842-18528852 chr19:18528990-18529003 chr19:18528537-18528546 chr19:18528842-18528851 chr19:18528993-18529006 chr19:18528840-18528854 chr19:18528989-18528999 chr19:18528498-18528512 chr19:18528586-18528599 chr19:18528688-18528698 chr19:18528842-18528852 chr19:18528686-18528696 chr19:18528683-18528696
13	POLR2A	chr19:18527095-18528938	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr19:18527025-18528787	HCT-116	colon:	n/a	n/a
16	MAX	chr19:18526998-18529277	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
17	POLR2A	chr19:18527622-18528480	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:18527064-18528665	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr19:18526995-18528898	HUVEC	blood vessel:	n/a	n/a
20	MAZ	chr19:18527615-18528793	HepG2	liver:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
21	POLR2A	chr19:18527518-18528728	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr19:18527532-18528740	U87	brain:	n/a	n/a
23	ZBTB7A	chr19:18527576-18528943	ECC-1	luminal epithelium:	n/a	chr19:18528162-18528171 chr19:18528520-18528527
24	EGR1	chr19:18527244-18529118	K562	blood:	n/a	chr19:18528591-18528601 chr19:18528838-18528852 chr19:18528842-18528852 chr19:18528990-18529003 chr19:18528537-18528546 chr19:18528842-18528851 chr19:18528993-18529006 chr19:18528840-18528854 chr19:18527657-18527670 chr19:18528989-18528999 chr19:18528498-18528512 chr19:18528586-18528599 chr19:18528688-18528698 chr19:18528842-18528852 chr19:18528686-18528696 chr19:18528683-18528696
25	SIN3A	chr19:18527191-18528608	H1-hESC	embryonic stem cell:	n/a	chr19:18528334-18528347
26	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
27	POLR2A	chr19:18527226-18528921	U87	brain:	n/a	n/a
28	GTF2F1	chr19:18527142-18528469	K562	blood:	n/a	n/a
29	HA-E2F1	chr19:18527487-18528226	MCF-7	breast:	n/a	chr19:18527812-18527824 chr19:18527824-18527833 chr19:18527812-18527823
30	POLR2A	chr19:18528050-18528527	GM12878	blood:	n/a	n/a
31	SMARCC1	chr19:18527164-18528528	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr19:18526951-18529116	K562	blood:	n/a	n/a
33	CREB1	chr19:18528211-18528668	A549	lung:	n/a	n/a
34	MYC	chr19:18527071-18528215	K562	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
35	CTBP2	chr19:18527646-18528535	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCLAF1	chr19:18528000-18528798	K562	blood:	n/a	chr19:18528537-18528546 chr19:18528689-18528698
37	ZNF143	chr19:18528165-18528397	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:18527066-18529321	HL-60	blood:	n/a	n/a
39	POLR2A	chr19:18527920-18528436	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:18527337-18528582	Gliobla	brain:	n/a	n/a
41	POLR2A	chr19:18527039-18528371	K562	blood:	n/a	n/a
42	YY1	chr19:18528197-18528675	K562	blood:	n/a	chr19:18528561-18528572
43	CHD2	chr19:18527176-18528519	H1-hESC	embryonic stem cell:	n/a	n/a
44	RCOR1	chr19:18527107-18528681	K562	blood:	n/a	n/a
45	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
46	MAX	chr19:18527096-18528624	Hela-S3	cervix:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
47	CHD2	chr19:18527164-18528669	K562	blood:	n/a	n/a
48	MYC	chr19:18527097-18529134	NB4	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
49	POLR2A	chr19:18527532-18529082	U87	brain:	n/a	n/a
50	MAZ	chr19:18527328-18528692	Hela-S3	cervix:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18220149..18221787-chr19:18528170..18529964,2	K562	blood:
3	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
4	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
7	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
8	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
9	chr19:18483533..18485446-chr19:18527365..18529374,2	K562	blood:
10	chr19:18421126..18423149-chr19:18527568..18529347,2	MCF-7	breast:
11	chr16:69165652..69166579-chr19:18527926..18528518,2	Hela-S3	cervix:
12	chr19:18527987..18529989-chr19:18630753..18632961,2	K562	blood:
13	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
14	chr19:18265654..18267596-chr19:18526831..18528675,2	K562	blood:
15	chr19:18527544..18530023-chr19:18699407..18700970,2	K562	blood:
16	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
17	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
18	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
19	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
20	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
21	chr19:18527420..18529466-chr19:49466752..49468633,2	K562	blood:
22	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
23	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
24	chr19:18527888..18529469-chr19:18682713..18684941,2	K562	blood:
25	chr19:18396145..18399548-chr19:18528063..18530226,4	K562	blood:
26	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
27	chr12:49760185..49761113-chr19:18527723..18528583,2	Hela-S3	cervix:
28	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
29	chr19:18263382..18266326-chr19:18527834..18529427,2	K562	blood:
30	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
31	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
32	chr19:18472311..18474156-chr19:18526952..18528977,3	K562	blood:
33	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000130511	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000267898	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000141076	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000168802	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18525000-18529600	Enhancers	Liver	Liver
2	chr19:18525000-18529600	Enhancers	Spleen	Spleen
3	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:18525400-18529600	Enhancers	Lung	lung
5	chr19:18526200-18528400	Flanking Active TSS	Fetal Lung	lung
6	chr19:18526400-18528800	Active TSS	Ovary	ovary
7	chr19:18527200-18528400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:18527200-18528400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr19:18527200-18528400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr19:18527200-18528400	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr19:18527200-18528600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr19:18527200-18528600	Flanking Bivalent TSS/Enh	Dnd41	blood
15	chr19:18527200-18529000	Flanking Active TSS	Osteobl	bone
16	chr19:18527200-18529200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:18527200-18530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:18527200-18530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:18527200-18530200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:18527400-18528400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:18527400-18528400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:18527400-18528400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:18527400-18528400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:18527400-18528400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr19:18527400-18528400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:18527400-18528400	Flanking Active TSS	Placenta	Placenta
28	chr19:18527400-18528400	Flanking Active TSS	Fetal Stomach	stomach
29	chr19:18527400-18528400	Flanking Active TSS	HepG2	liver
30	chr19:18527400-18528600	Flanking Active TSS	NHEK	skin
31	chr19:18527400-18528800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:18527400-18528800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:18527400-18528800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:18527400-18529000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:18527400-18529000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:18527400-18529000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:18527400-18529000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr19:18527400-18529000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:18527400-18529200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:18527400-18529200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:18527400-18529400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
42	chr19:18527400-18529800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr19:18527400-18530000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:18527400-18530000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:18527400-18530000	Flanking Active TSS	Right Ventricle	heart
46	chr19:18527400-18530200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr19:18527600-18528400	Flanking Active TSS	Left Ventricle	heart
48	chr19:18527600-18528600	Flanking Active TSS	GM12878-XiMat	blood
49	chr19:18527600-18528800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:18527600-18528800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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