Variant report

Variant	rs77305894
Chromosome Location	chr19:18497304-18497305
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	POLR2A	chr19:18496721-18498359	K562	blood:	n/a	n/a
2	RCOR1	chr19:18496131-18498156	IMR90	lung:	n/a	n/a
3	MAZ	chr19:18496304-18498087	IMR90	lung:	n/a	chr19:18496883-18496893
4	MYC	chr19:18496411-18497925	K562	blood:	n/a	chr19:18496883-18496893
5	POLR2A	chr19:18496602-18497352	U87	brain:	n/a	n/a
6	MYBL2	chr19:18496306-18497377	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:18496707-18497340	A549	lung:	n/a	n/a
8	GTF2F1	chr19:18496423-18498128	Hela-S3	cervix:	n/a	n/a
9	E2F4	chr19:18496807-18497304	K562	blood:	n/a	n/a
10	POLR2A	chr19:18496570-18502116	PANC-1	pancreas:	n/a	n/a
11	ZBTB33	chr19:18496720-18497350	HCT-116	colon:	n/a	n/a
12	MAZ	chr19:18496689-18497887	Hela-S3	cervix:	n/a	chr19:18496883-18496893
13	POLR2A	chr19:18496706-18498218	K562	blood:	n/a	n/a
14	POLR2A	chr19:18496638-18497440	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:18496644-18497513	MCF-7	breast:	n/a	n/a
16	MAX	chr19:18496799-18497308	H1-hESC	embryonic stem cell:	n/a	chr19:18496883-18496893
17	ZBTB7A	chr19:18496608-18497374	K562	blood:	n/a	chr19:18496804-18496813
18	GATA2	chr19:18496185-18497519	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr19:18496798-18497352	MCF-7	breast:	n/a	n/a
20	SP1	chr19:18496534-18497306	A549	lung:	n/a	chr19:18496847-18496856 chr19:18496845-18496857 chr19:18496845-18496857 chr19:18496885-18496899 chr19:18496846-18496855 chr19:18496895-18496907 chr19:18496846-18496855 chr19:18496892-18496906
21	POLR2A	chr19:18496339-18498714	HUVEC	blood vessel:	n/a	n/a
22	TEAD4	chr19:18496926-18497316	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr19:18496278-18498015	K562	blood:	n/a	chr19:18497691-18497705 chr19:18496533-18496540 chr19:18496872-18496882
24	FOSL2	chr19:18496325-18497309	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:18496202-18502123	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr19:18496258-18501948	HCT-116	colon:	n/a	n/a
27	POLR2A	chr19:18496766-18497435	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:18496561-18497643	SK-N-SH	brain:	n/a	n/a
29	MAX	chr19:18496288-18498036	A549	lung:	n/a	chr19:18496883-18496893
30	CTCF	chr19:18496732-18497424	K562	blood:	n/a	n/a
31	POLR2A	chr19:18496693-18498608	U87	brain:	n/a	n/a
32	SP1	chr19:18496383-18497312	A549	lung:	n/a	chr19:18496847-18496856 chr19:18496845-18496857 chr19:18496845-18496857 chr19:18496885-18496899 chr19:18496846-18496855 chr19:18496895-18496907 chr19:18496846-18496855 chr19:18496892-18496906
33	POLR2A	chr19:18496679-18502186	PANC-1	pancreas:	n/a	n/a
34	RAD21	chr19:18496772-18497330	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr19:18496612-18498072	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr19:18496758-18497347	K562	blood:	n/a	n/a
37	SIN3AK20	chr19:18496664-18498331	HCT-116	colon:	n/a	n/a
38	JUN	chr19:18496099-18498685	K562	blood:	n/a	chr19:18498525-18498534 chr19:18497901-18497912
39	ZMIZ1	chr19:18496662-18498480	K562	blood:	n/a	n/a
40	REST	chr19:18496521-18497840	A549	lung:	n/a	chr19:18496886-18496899
41	CBX3	chr19:18496699-18497915	K562	blood:	n/a	n/a
42	ATF3	chr19:18496912-18497315	A549	lung:	n/a	n/a
43	SMC3	chr19:18496902-18497314	K562	blood:	n/a	n/a
44	HDAC2	chr19:18496739-18497323	MCF-7	breast:	n/a	chr19:18496872-18496881
45	POLR2A	chr19:18495086-18501822	HepG2	liver:	n/a	n/a
46	MAX	chr19:18496769-18497923	K562	blood:	n/a	chr19:18496883-18496893
47	BHLHE40	chr19:18496796-18497903	K562	blood:	n/a	chr19:18497666-18497682
48	USF2	chr19:18496866-18498186	Hela-S3	cervix:	n/a	chr19:18497666-18497682
49	CHD2	chr19:18496930-18497627	K562	blood:	n/a	n/a
50	MYBL2	chr19:18496124-18498233	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
2	chr19:18207159..18210021-chr19:18495217..18497699,3	K562	blood:
3	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
4	chr19:18314629..18316965-chr19:18497132..18498761,2	K562	blood:
5	chr19:18466669..18468716-chr19:18495556..18498014,2	MCF-7	breast:
6	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
7	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
8	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
9	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
10	chr19:18334018..18336391-chr19:18495614..18498582,2	K562	blood:
11	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
12	chr19:18466985..18470499-chr19:18496778..18498391,3	K562	blood:
13	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
14	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
15	chr19:18496590..18497307-chr3:195808657..195809233,2	HCT-116	colon:
16	chr19:18277732..18279350-chr19:18496912..18498851,2	K562	blood:
17	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
18	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
19	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
20	chr19:18497054..18498621-chr6:31695966..31697891,2	K562	blood:
21	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
22	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
23	chr19:18443925..18446032-chr19:18496432..18498397,2	MCF-7	breast:
24	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
25	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
26	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
27	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:

Variant related genes	Relation type
GDF15	TF binding region
MIR3189	TF binding region
ENSG00000105649	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
5	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:18495800-18497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr19:18496200-18497400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:18496400-18498000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
9	chr19:18496400-18498600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:18496400-18499000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:18496600-18497400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:18496600-18497800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:18496600-18497800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:18496600-18498200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr19:18496600-18498200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:18496800-18497400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:18496800-18497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:18496800-18497400	Active TSS	Duodenum Mucosa	Duodenum
23	chr19:18496800-18497400	Weak transcription	Small Intestine	intestine
24	chr19:18496800-18497400	Enhancers	Spleen	Spleen
25	chr19:18496800-18497400	Active TSS	Hela-S3	cervix
26	chr19:18496800-18497400	Active TSS	HUVEC	blood vessel
27	chr19:18496800-18497400	Active TSS	Osteobl	bone
28	chr19:18496800-18497600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:18496800-18497600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:18496800-18497800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:18496800-18497800	Strong transcription	Right Atrium	heart
32	chr19:18496800-18498000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:18496800-18498000	Flanking Active TSS	Colonic Mucosa	Colon
34	chr19:18496800-18498000	Active TSS	Colon Smooth Muscle	Colon
35	chr19:18496800-18498000	Flanking Active TSS	Pancreas	Pancrea
36	chr19:18496800-18498000	Flanking Active TSS	HMEC	breast
37	chr19:18496800-18498200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:18496800-18499000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr19:18496800-18499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:18496800-18499400	Active TSS	A549	lung
41	chr19:18496800-18499600	Active TSS	K562	blood
42	chr19:18497000-18497400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:18497000-18497400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:18497000-18497400	Active TSS	Liver	Liver
45	chr19:18497000-18497400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr19:18497000-18497400	Active TSS	NHDF-Ad	bronchial
47	chr19:18497000-18497600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr19:18497000-18497800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:18497000-18497800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr19:18497000-18497800	Active TSS	HSMM	muscle

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