Variant report

Variant	rs576512193
Chromosome Location	chr19:18552037-18552038
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	RXRA	chr19:18551983-18552216	HepG2	liver:	n/a	chr19:18552083-18552099
2	HNF4A	chr19:18551901-18552269	HepG2	liver:	n/a	chr19:18552155-18552168 chr19:18552152-18552170 chr19:18552085-18552098 chr19:18552155-18552167 chr19:18552155-18552167 chr19:18552155-18552168 chr19:18552150-18552172 chr19:18552085-18552098
3	POLR2A	chr19:18551223-18552131	Hela-S3	cervix:	n/a	n/a
4	ESR1	chr19:18551873-18552188	T-47D	breast:	n/a	n/a
5	NR3C1	chr19:18551866-18552188	A549	lung:	n/a	chr19:18551990-18552003
6	HNF4G	chr19:18551973-18552276	HepG2	liver:	n/a	chr19:18552155-18552168 chr19:18552152-18552170 chr19:18552154-18552169 chr19:18552085-18552098 chr19:18552155-18552167 chr19:18552155-18552167 chr19:18552155-18552168 chr19:18552150-18552172 chr19:18552085-18552098
7	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
8	POLR2A	chr19:18550619-18553582	HepG2	liver:	n/a	n/a
9	MYBL2	chr19:18551963-18552424	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:18547157-18552159	K562	blood:	n/a	n/a
11	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
12	NR3C1	chr19:18551810-18552262	A549	lung:	n/a	chr19:18552225-18552251 chr19:18551990-18552003 chr19:18551831-18551844
13	POLR2A	chr19:18550956-18552514	HL-60	blood:	n/a	n/a
14	MAZ	chr19:18551844-18552187	HepG2	liver:	n/a	chr19:18552131-18552141
15	POLR2A	chr19:18550683-18553505	GM12878	blood:	n/a	n/a
16	FOSL2	chr19:18549286-18553091	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:18550690-18552054	K562	blood:	n/a	n/a
18	HDAC2	chr19:18551904-18552396	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:18550855-18552514	GM12891	blood:	n/a	n/a
20	HNF4A	chr19:18551973-18552312	HepG2	liver:	n/a	chr19:18552155-18552168 chr19:18552152-18552170 chr19:18552085-18552098 chr19:18552155-18552167 chr19:18552155-18552167 chr19:18552155-18552168 chr19:18552150-18552172 chr19:18552085-18552098
21	STAT5A	chr19:18548892-18553469	GM12878	blood:	n/a	chr19:18548988-18549000 chr19:18552557-18552569 chr19:18548983-18548995 chr19:18549005-18549017
22	POLR2A	chr19:18551772-18552055	Hela-S3	cervix:	n/a	n/a
23	ESR1	chr19:18551809-18552199	T-47D	breast:	n/a	n/a
24	POLR2A	chr19:18551057-18552230	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:18551836-18552152	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:18550597-18553492	GM12892	blood:	n/a	n/a
27	FOXA1	chr19:18551840-18552420	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:18551043-18552091	PANC-1	pancreas:	n/a	n/a
29	NFATC1	chr19:18550849-18552217	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:18550920-18552196	HL-60	blood:	n/a	n/a
31	ESR1	chr19:18551844-18552222	T-47D	breast:	n/a	n/a
32	STAT5A	chr19:18549114-18553539	K562	blood:	n/a	chr19:18552557-18552569
33	POLR2A	chr19:18550978-18553248	GM12892	blood:	n/a	n/a
34	HNF4A	chr19:18551942-18552293	HepG2	liver:	n/a	chr19:18552155-18552168 chr19:18552152-18552170 chr19:18552085-18552098 chr19:18552155-18552167 chr19:18552155-18552167 chr19:18552155-18552168 chr19:18552150-18552172 chr19:18552085-18552098
35	SP1	chr19:18551888-18552341	HepG2	liver:	n/a	chr19:18551918-18551932
36	POLR2A	chr19:18550947-18552470	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:18550934-18552333	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:18551126-18552203	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18550282..18552478-chr19:18560727..18563177,3	K562	blood:
2	chr19:18550508..18552172-chr19:18631567..18633439,2	K562	blood:
3	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
4	chr19:18548890..18552469-chr19:18555256..18558580,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSBP4-2	chr19:18551920-18552354	NONHSAT062974

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000268199	TF binding region
ENSG00000105656	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130513	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	esv3401601	chr19:18551998-18554482	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18548600-18554200	Weak transcription	Dnd41	blood
3	chr19:18548800-18552800	Weak transcription	Primary T cells from cord blood	blood
4	chr19:18548800-18552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:18548800-18552800	Weak transcription	HSMMtube	muscle
6	chr19:18548800-18553200	Weak transcription	Fetal Kidney	kidney
7	chr19:18548800-18554200	Weak transcription	NHDF-Ad	bronchial
8	chr19:18549000-18552600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:18549000-18552600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:18549200-18552200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:18549200-18554200	Enhancers	Placenta	Placenta
12	chr19:18549200-18554400	Weak transcription	Primary B cells from cord blood	blood
13	chr19:18549200-18559600	Weak transcription	HSMM	muscle
14	chr19:18549200-18566200	Weak transcription	HUVEC	blood vessel
15	chr19:18549400-18552400	Enhancers	A549	lung
16	chr19:18549400-18552600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:18549400-18552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:18549400-18552800	Weak transcription	GM12878-XiMat	blood
19	chr19:18549400-18553400	Enhancers	Fetal Intestine Large	intestine
20	chr19:18549400-18554000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:18549400-18554600	Weak transcription	Brain Angular Gyrus	brain
22	chr19:18549400-18556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:18549600-18553000	Weak transcription	Brain Anterior Caudate	brain
24	chr19:18549600-18553000	Weak transcription	Gastric	stomach
25	chr19:18549600-18553400	Enhancers	Fetal Intestine Small	intestine
26	chr19:18549600-18553400	Enhancers	Pancreas	Pancrea
27	chr19:18549600-18554000	Weak transcription	Brain Germinal Matrix	brain
28	chr19:18549600-18554200	Weak transcription	Brain Substantia Nigra	brain
29	chr19:18549600-18554400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:18549600-18554400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:18549800-18553200	Weak transcription	Colonic Mucosa	Colon
32	chr19:18549800-18553400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:18549800-18554000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:18549800-18554200	Weak transcription	Fetal Brain Female	brain
35	chr19:18549800-18554600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:18549800-18567000	Weak transcription	Psoas Muscle	Psoas
37	chr19:18550000-18552800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:18550000-18552800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:18550000-18553800	Weak transcription	Left Ventricle	heart
40	chr19:18550000-18553800	Weak transcription	Right Ventricle	heart
41	chr19:18550000-18553800	Weak transcription	Thymus	Thymus
42	chr19:18550000-18554000	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:18550000-18554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:18550000-18554400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:18550000-18554400	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:18550200-18552800	Enhancers	Fetal Muscle Trunk	muscle
47	chr19:18550200-18553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:18550200-18554400	Weak transcription	Adipose Nuclei	Adipose
49	chr19:18550200-18554600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr19:18550200-18559600	Weak transcription	Primary hematopoietic stem cells	blood

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