Variant report

Variant	rs569709250
Chromosome Location	chr19:42926934-42926935
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	CTCF	chr19:42926900-42927050	GM12873	blood:	n/a	n/a
2	POLR2A	chr19:42926870-42927254	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:42926830-42928192	GM12878	blood:	n/a	n/a
4	CHD1	chr19:42926733-42928070	GM12878	blood:	n/a	n/a
5	SPI1	chr19:42926776-42927326	GM12878	blood:	n/a	chr19:42927152-42927159 chr19:42927149-42927162 chr19:42927151-42927160 chr19:42927150-42927163
6	POLR2A	chr19:42926774-42928253	GM12892	blood:	n/a	n/a
7	SPI1	chr19:42926805-42927324	GM12891	blood:	n/a	chr19:42927152-42927159 chr19:42927149-42927162 chr19:42927151-42927160 chr19:42927150-42927163
8	SIN3A	chr19:42926858-42928026	GM12878	blood:	n/a	chr19:42927986-42927999
9	POLR2A	chr19:42926472-42928276	Raji	blood:	n/a	n/a
10	MTA3	chr19:42926592-42927285	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:42926811-42928161	GM12878	blood:	n/a	n/a
12	REST	chr19:42926649-42928673	H1-neurons	neurons:	n/a	chr19:42927980-42927998 chr19:42927655-42927668 chr19:42927979-42927999 chr19:42927541-42927551
13	CHD1	chr19:42926653-42928296	IMR90	lung:	n/a	n/a
14	ZEB1	chr19:42926851-42927757	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:42926820-42928184	GM12891	blood:	n/a	n/a
16	ELF1	chr19:42926690-42928210	GM12878	blood:	n/a	chr19:42927978-42927990
17	POLR2A	chr19:42926892-42928209	GM12878	blood:	n/a	n/a
18	SPI1	chr19:42926904-42927361	GM12891	blood:	n/a	chr19:42927152-42927159 chr19:42927149-42927162 chr19:42927151-42927160 chr19:42927150-42927163
19	POLR2A	chr19:42926829-42928284	GM12878	blood:	n/a	n/a
20	ELF1	chr19:42926489-42928635	GM12878	blood:	n/a	chr19:42927978-42927990
21	POLR2A	chr19:42926875-42928366	GM19193	blood:	n/a	n/a
22	MTA3	chr19:42926179-42928574	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:42926890-42928288	GM18951	blood:	n/a	n/a
24	SREBP1	chr19:42926508-42928071	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:42926745-42928431	H1-neurons	neurons:	n/a	n/a
26	SPI1	chr19:42926722-42927535	GM12878	blood:	n/a	chr19:42927152-42927159 chr19:42927149-42927162 chr19:42927151-42927160 chr19:42927150-42927163
27	MAZ	chr19:42926407-42928545	IMR90	lung:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
28	POLR2A	chr19:42926691-42928128	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr19:42926876-42928153	GM12878	blood:	n/a	n/a
30	MAX	chr19:42926737-42928526	GM12878	blood:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032
31	ELK1	chr19:42926923-42927645	GM12878	blood:	n/a	n/a
32	YY1	chr19:42926823-42928083	GM12878	blood:	n/a	chr19:42927651-42927665
33	POLR2A	chr19:42926462-42928671	H1-neurons	neurons:	n/a	n/a
34	JUND	chr19:42926824-42928285	SK-N-SH	brain:	n/a	chr19:42927139-42927147
35	POLR2A	chr19:42926759-42928277	GM19099	blood:	n/a	n/a
36	MXI1	chr19:42926565-42928104	GM12878	blood:	n/a	n/a
37	PML	chr19:42926332-42928553	GM12878	blood:	n/a	n/a
38	STAT5A	chr19:42926753-42928561	GM12878	blood:	n/a	chr19:42927150-42927157
39	JUND	chr19:42926571-42928608	GM12878	blood:	n/a	chr19:42927139-42927147
40	POLR2A	chr19:42926806-42928130	GM18505	blood:	n/a	n/a
41	TCF3	chr19:42926884-42927579	GM12878	blood:	n/a	chr19:42927163-42927178 chr19:42927237-42927253 chr19:42927166-42927175 chr19:42926916-42926929
42	NFIC	chr19:42926901-42928228	GM12878	blood:	n/a	n/a
43	RUNX3	chr19:42926775-42928119	GM12878	blood:	n/a	n/a
44	BCL3	chr19:42926895-42928320	A549	lung:	n/a	chr19:42927843-42927856 chr19:42927842-42927851 chr19:42927888-42927897 chr19:42927855-42927864

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42925339..42926995-chr19:42928878..42931861,2	K562	blood:
2	chr19:42924851..42926943-chr19:42928310..42931390,3	MCF-7	breast:

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000268605	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000079435	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS 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	9 gene(s)	inside rSNPs	diseases
12	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv911802	chr19:42915110-42929254	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv911805	chr19:42919405-42927065	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv911806	chr19:42919405-42928397	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv911807	chr19:42920555-42929254	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv579633	chr19:42925636-42929254	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv911808	chr19:42925636-42930652	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr19:42924000-42927200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:42924200-42927000	Enhancers	Pancreas	Pancrea
3	chr19:42924400-42927200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:42924600-42927000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:42925200-42927200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:42925400-42927200	Enhancers	Hela-S3	cervix
7	chr19:42925400-42927400	Flanking Active TSS	NHEK	skin
8	chr19:42925400-42928400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr19:42925600-42927200	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr19:42925600-42927200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr19:42925600-42927400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:42925800-42927000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr19:42925800-42927000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:42925800-42927000	Enhancers	Stomach Mucosa	stomach
15	chr19:42925800-42927200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr19:42925800-42927200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:42925800-42928400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr19:42926000-42928600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:42926200-42927000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42926200-42927000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:42926200-42927000	Flanking Active TSS	Fetal Heart	heart
22	chr19:42926200-42927000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr19:42926200-42927000	Enhancers	A549	lung
24	chr19:42926200-42927200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:42926200-42927200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr19:42926200-42927200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr19:42926200-42927200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr19:42926200-42927200	Flanking Active TSS	Fetal Brain Female	brain
29	chr19:42926200-42927200	Flanking Active TSS	Left Ventricle	heart
30	chr19:42926200-42927200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr19:42926200-42927200	Active TSS	Rectal Smooth Muscle	rectum
32	chr19:42926200-42927200	Enhancers	Small Intestine	intestine
33	chr19:42926200-42927400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:42926200-42927600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:42926200-42927600	Flanking Active TSS	GM12878-XiMat	blood
36	chr19:42926200-42928400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:42926200-42929200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:42926400-42927000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:42926400-42927000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:42926400-42927000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:42926400-42927000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr19:42926400-42927000	Flanking Active TSS	Esophagus	oesophagus
43	chr19:42926400-42927000	Enhancers	Fetal Lung	lung
44	chr19:42926400-42927000	Enhancers	Ovary	ovary
45	chr19:42926400-42927200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:42926400-42927200	Enhancers	Liver	Liver
47	chr19:42926400-42927200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr19:42926400-42927200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:42926400-42927200	Flanking Active TSS	Dnd41	blood
50	chr19:42926400-42927400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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