Variant report

Variant	rs185011904
Chromosome Location	chr19:24269623-24269624
allele	A/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	MXI1	chr19:24269390-24270746	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:24269574-24270479	K562	blood:	n/a	n/a
3	POLR2A	chr19:24269623-24270513	GM18505	blood:	n/a	n/a
4	POLR2A	chr19:24269609-24270536	Hela-S3	cervix:	n/a	n/a
5	GATA1	chr19:24269491-24270880	PBDE	blood:	n/a	chr19:24270230-24270237
6	SP1	chr19:24269613-24270377	A549	lung:	n/a	chr19:24270168-24270180 chr19:24269884-24269896 chr19:24269884-24269896 chr19:24270169-24270178 chr19:24270168-24270180
7	POLR2A	chr19:24269555-24269625	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:24269213-24270610	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr19:24269530-24270611	IMR90	lung:	n/a	n/a
10	ELF1	chr19:24269604-24270424	MCF-7	breast:	n/a	chr19:24269968-24269981 chr19:24269970-24269979 chr19:24270203-24270215 chr19:24269969-24269980
11	POLR2A	chr19:24269582-24270622	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:24269612-24270483	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:24269481-24270476	MCF-7	breast:	n/a	n/a
14	EP300	chr19:24269586-24270299	K562	blood:	n/a	n/a
15	GATA2	chr19:24269539-24270419	SH-SY5Y	brain:	n/a	chr19:24270230-24270237

No.	Distal block	Cell Line	Cell type
1	chr19:24097706..24100500-chr19:24267529..24270344,3	K562	blood:
2	chr19:24269481..24270366-chr8:29940201..29940789,2	NB4	blood:
3	chr19:24216051..24217841-chr19:24269020..24271219,2	MCF-7	breast:
4	chr19:24214690..24216513-chr19:24269521..24272423,2	K562	blood:
5	chr19:24214637..24216513-chr19:24268176..24271021,2	K562	blood:

Variant related genes	Relation type
ZNF254	TF binding region
ENSG00000272256	Chromatin interaction
ENSG00000133872	Chromatin interaction
ENSG00000213967	Chromatin interaction
ENSG00000213096	Chromatin interaction
ENSG00000268362	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529080	chr19:23624528-24311535	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1063538	chr19:23671507-24561180	Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1065058	chr19:23724151-24503722	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv993561	chr19:23731992-24378493	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv524183	chr19:23742358-24490299	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv533257	chr19:23812263-24366074	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1063173	chr19:23821984-24521623	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1056903	chr19:23827708-24503722	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1066151	chr19:23830504-24561180	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv916400	chr19:23848713-24378493	Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv498117	chr19:23868453-24376393	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv911472	chr19:23896204-24601680	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv911473	chr19:23901285-24545366	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv1061681	chr19:23912494-24507160	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv1058987	chr19:23913386-24503722	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv543968	chr19:23913386-24503722	Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1061954	chr19:23928142-24358439	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv543969	chr19:23928142-24358439	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv911475	chr19:23957937-24545366	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
20	esv3514268	chr19:23983125-24280811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv3514269	chr19:23983125-24280811	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv579077	chr19:24084419-24490299	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
23	nsv1059114	chr19:24096441-24324826	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
24	esv3349957	chr19:24127944-24326368	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
25	nsv1064777	chr19:24133014-24358439	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
26	nsv543970	chr19:24133014-24358439	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
27	nsv1057291	chr19:24158049-24282798	Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv833791	chr19:24160863-24293337	Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
29	nsv579078	chr19:24209547-24631604	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
30	nsv911477	chr19:24217064-24545366	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
31	nsv432043	chr19:24222128-24503985	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
32	nsv911478	chr19:24241624-24545366	Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
33	nsv978798	chr19:24261622-24285690	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv579079	chr19:24267575-24308487	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
35	nsv833793	chr19:24269209-24424795	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24242000-24269800	Weak transcription	Stomach Mucosa	stomach
2	chr19:24245200-24270000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:24251200-24269800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:24256600-24269800	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:24256800-24270000	Weak transcription	Fetal Brain Male	brain
6	chr19:24257000-24269800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:24257000-24270000	Weak transcription	Aorta	Aorta
8	chr19:24257200-24269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:24257400-24269800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:24257400-24269800	Weak transcription	Ovary	ovary
11	chr19:24257400-24270000	Weak transcription	Gastric	stomach
12	chr19:24257800-24269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:24258000-24269800	Weak transcription	Brain Anterior Caudate	brain
14	chr19:24258000-24269800	Weak transcription	Fetal Kidney	kidney
15	chr19:24258800-24269800	Weak transcription	Fetal Intestine Small	intestine
16	chr19:24259400-24270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:24261000-24269800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:24261000-24269800	Weak transcription	Fetal Lung	lung
19	chr19:24261000-24269800	Weak transcription	Left Ventricle	heart
20	chr19:24261000-24269800	Weak transcription	HSMMtube	muscle
21	chr19:24261600-24270000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:24262000-24269800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:24262200-24270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:24262400-24269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:24262400-24269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:24262800-24269800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:24263200-24269800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:24263400-24269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:24263400-24269800	Weak transcription	Liver	Liver
30	chr19:24264800-24269800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:24268200-24269800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:24269200-24269800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:24269200-24269800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:24269400-24269800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:24269400-24269800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:24269400-24269800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr19:24269400-24269800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:24269400-24269800	Enhancers	Pancreas	Pancrea
39	chr19:24269400-24269800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr19:24269400-24269800	Flanking Active TSS	Dnd41	blood
41	chr19:24269400-24269800	Enhancers	Hela-S3	cervix
42	chr19:24269400-24269800	Enhancers	K562	blood
43	chr19:24269400-24270600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:24269400-24270600	ZNF genes & repeats	Lung	lung
45	chr19:24269400-24270800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr19:24269400-24270800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:24269400-24270800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:24269400-24270800	Active TSS	Brain Hippocampus Middle	brain
49	chr19:24269400-24270800	Active TSS	Right Ventricle	heart
50	chr19:24269400-24270800	Active TSS	Thymus	Thymus

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