Variant report

Variant	rs543332375
Chromosome Location	chr4:1288920-1288921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1288584-1288931	K562	blood:	n/a	n/a
2	POLR2A	chr4:1288690-1289060	GM12891	blood:	n/a	n/a
3	POLR2A	chr4:1288600-1289797	K562	blood:	n/a	n/a
4	POLR2A	chr4:1288593-1289060	K562	blood:	n/a	n/a
5	POLR2A	chr4:1288592-1289068	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1286127..1289218-chr4:1332032..1335159,3	K562	blood:
2	chr4:1287223..1288934-chr4:1342789..1345119,2	K562	blood:
3	chr4:1287434..1290416-chr4:1342936..1345119,2	K562	blood:
4	chr4:1036618..1039246-chr4:1287884..1290247,2	K562	blood:
5	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
6	chr4:1242309..1244859-chr4:1287604..1289236,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAEA	TF binding region
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
6	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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 target site	51 gene(s)	inside rSNPs	diseases
13	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv461156	chr4:1254930-1312394	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv593299	chr4:1254930-1312394	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv593300	chr4:1272664-1312394	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
19	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
21	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
22	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	esv3384011	chr4:1287052-1291350	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv3394864	chr4:1288602-1291225	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1284600-1290200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1285000-1289400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr4:1285200-1290200	Weak transcription	Aorta	Aorta
4	chr4:1285200-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:1285200-1303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:1285400-1289200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:1285400-1289400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:1285400-1290200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:1285400-1290600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:1285400-1291200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:1285400-1291200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:1285400-1293400	Weak transcription	A549	lung
13	chr4:1285400-1294200	Weak transcription	HSMMtube	muscle
14	chr4:1285400-1294200	Weak transcription	HUVEC	blood vessel
15	chr4:1285400-1302400	Weak transcription	Fetal Kidney	kidney
16	chr4:1285600-1289400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:1285600-1290200	Weak transcription	Fetal Lung	lung
18	chr4:1285600-1290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:1285600-1291400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:1285800-1289200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:1285800-1296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:1285800-1302200	Weak transcription	NHDF-Ad	bronchial
23	chr4:1286000-1289400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:1286000-1289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:1286000-1295200	Strong transcription	Thymus	Thymus
26	chr4:1286200-1290200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:1286200-1290800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:1286200-1291400	Weak transcription	Hela-S3	cervix
29	chr4:1286200-1293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:1286200-1299200	Strong transcription	Fetal Intestine Small	intestine
31	chr4:1286200-1302400	Weak transcription	Fetal Brain Male	brain
32	chr4:1286400-1289400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:1286400-1290600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:1286400-1299000	Weak transcription	Small Intestine	intestine
35	chr4:1286600-1290200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:1286600-1290200	Weak transcription	NHLF	lung
37	chr4:1287000-1289400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:1287200-1289000	Genic enhancers	Placenta	Placenta
39	chr4:1287200-1289400	Enhancers	Fetal Heart	heart
40	chr4:1287200-1289400	Enhancers	Left Ventricle	heart
41	chr4:1287200-1289400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:1287200-1290400	Enhancers	Right Atrium	heart
43	chr4:1287400-1289000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:1287400-1289000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:1287400-1289400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:1287400-1289400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:1287400-1289400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:1287400-1289400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:1287400-1289400	Enhancers	Adipose Nuclei	Adipose
50	chr4:1287400-1289400	Enhancers	Liver	Liver

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