Variant report

Variant	rs141312693
Chromosome Location	chr20:25731510-25731511
allele	G/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	TAF1	chr20:25731480-25731736	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr20:25731459-25732293	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr20:25731416-25732092	HepG2	liver:	n/a	n/a
4	MYBL2	chr20:25731089-25732153	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:25731413-25731760	GM12891	blood:	n/a	n/a
6	POLR2A	chr20:25731095-25732170	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:25731390-25732057	A549	lung:	n/a	n/a
8	POLR2A	chr20:25731474-25731622	A549	lung:	n/a	n/a
9	CEBPD	chr20:25731486-25732115	HepG2	liver:	n/a	n/a
10	POLR2A	chr20:25731328-25732215	MCF-7	breast:	n/a	n/a
11	MAX	chr20:25731372-25732599	MCF-7	breast:	n/a	chr20:25731447-25731456
12	POLR2A	chr20:25731413-25731799	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr20:25731321-25732034	GM12891	blood:	n/a	n/a
14	POLR2A	chr20:25731482-25732108	GM15510	blood:	n/a	n/a
15	POLR2A	chr20:25731492-25732003	GM18951	blood:	n/a	n/a
16	TAF1	chr20:25731431-25732221	HepG2	liver:	n/a	n/a
17	POLR2A	chr20:25731257-25732109	MCF-7	breast:	n/a	n/a
18	POLR2A	chr20:25731427-25731915	HUVEC	blood vessel:	n/a	n/a
19	PML	chr20:25731409-25732130	MCF-7	breast:	n/a	n/a
20	MAZ	chr20:25731406-25732179	HepG2	liver:	n/a	chr20:25731447-25731456
21	POLR2A	chr20:25731375-25731772	GM12878	blood:	n/a	n/a
22	POLR2A	chr20:25731367-25732093	MCF-7	breast:	n/a	n/a
23	POLR2A	chr20:25731407-25731910	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr20:25731368-25732095	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr20:25731365-25732150	ECC-1	luminal epithelium:	n/a	n/a
26	NRF1	chr20:25731412-25732012	SK-N-SH	brain:	n/a	chr20:25731747-25731758 chr20:25731748-25731759 chr20:25731745-25731759
27	POLR2A	chr20:25731477-25732101	HepG2	liver:	n/a	n/a
28	POLR2A	chr20:25731406-25732055	A549	lung:	n/a	n/a
29	POLR2A	chr20:25731178-25732362	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr20:25731459-25732185	HepG2	liver:	n/a	n/a
31	POLR2A	chr20:25731397-25731837	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr20:25731132-25732139	HepG2	liver:	n/a	n/a
33	POLR2A	chr20:25731463-25731795	A549	lung:	n/a	n/a
34	POLR2A	chr20:25731288-25731785	GM12878	blood:	n/a	n/a
35	CHD2	chr20:25731489-25731592	HepG2	liver:	n/a	n/a
36	POLR2A	chr20:25731463-25731582	A549	lung:	n/a	n/a
37	MBD4	chr20:25731051-25732339	HepG2	liver:	n/a	n/a
38	EGR1	chr20:25731443-25732329	MCF-7	breast:	n/a	chr20:25732030-25732040 chr20:25732103-25732127 chr20:25732030-25732039 chr20:25732030-25732041 chr20:25732030-25732040 chr20:25732029-25732042 chr20:25731749-25731758 chr20:25732030-25732041 chr20:25732028-25732042
39	RCOR1	chr20:25731376-25731684	HepG2	liver:	n/a	n/a
40	TBL1XR1	chr20:25731508-25731533	K562	blood:	n/a	n/a
41	POLR2A	chr20:25731491-25732006	ProgFib	skin:	n/a	n/a
42	HEY1	chr20:25731400-25732150	HepG2	liver:	n/a	n/a
43	NFIC	chr20:25731371-25731789	HepG2	liver:	n/a	n/a
44	HEY1	chr20:25731354-25731774	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25727469..25729069-chr20:25729208..25731767,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-1	chr20:25730940-25732440	XLOC_013708

Variant related genes	Relation type
ENSG00000226465	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1056288	chr20:25662941-25744711	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1057618	chr20:25665455-25744711	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
4	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1062442	chr20:25714010-25754838	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv470545	chr20:25715507-26309255	Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	esv18917	chr20:25731048-25780918	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv820681	chr20:25731048-25780918	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25730600-25732400	Active TSS	Rectal Smooth Muscle	rectum
2	chr20:25731200-25731600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr20:25731200-25731600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr20:25731200-25731600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr20:25731200-25731600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr20:25731200-25731600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr20:25731200-25731600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:25731200-25731600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:25731200-25731600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:25731200-25731600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr20:25731200-25731600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr20:25731200-25731600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr20:25731200-25731600	Flanking Active TSS	A549	lung
14	chr20:25731200-25731600	Flanking Active TSS	NHEK	skin
15	chr20:25731200-25731800	Enhancers	Lung	lung
16	chr20:25731200-25732000	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr20:25731200-25732000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:25731200-25732000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr20:25731200-25732000	Enhancers	Small Intestine	intestine
20	chr20:25731200-25732200	Active TSS	Duodenum Mucosa	Duodenum
21	chr20:25731200-25732200	Active TSS	Fetal Brain Female	brain
22	chr20:25731200-25732200	Active TSS	Right Ventricle	heart
23	chr20:25731200-25732200	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr20:25731200-25732400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr20:25731200-25732400	Active TSS	Primary T cells fromperipheralblood	blood
26	chr20:25731200-25732400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr20:25731200-25732400	Enhancers	Fetal Heart	heart
28	chr20:25731200-25732400	Active TSS	Fetal Intestine Small	intestine
29	chr20:25731200-25732400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:25731200-25732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr20:25731200-25732600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:25731200-25732600	Active TSS	Fetal Intestine Large	intestine
33	chr20:25731200-25732800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr20:25731200-25732800	Enhancers	Spleen	Spleen
35	chr20:25731400-25731600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr20:25731400-25731600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:25731400-25731600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr20:25731400-25731600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:25731400-25731600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr20:25731400-25731600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr20:25731400-25731600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr20:25731400-25731600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr20:25731400-25731600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr20:25731400-25731600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr20:25731400-25731600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:25731400-25731600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:25731400-25731600	Flanking Active TSS	Liver	Liver
48	chr20:25731400-25731600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr20:25731400-25731600	Flanking Active TSS	Esophagus	oesophagus
50	chr20:25731400-25731600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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