Variant report

Variant	rs546199402
Chromosome Location	chr4:1282637-1282638
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	POLR2A	chr4:1282350-1284268	Raji	blood:	n/a	n/a
2	POLR2A	chr4:1282198-1284076	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr4:1282275-1283911	GM12891	blood:	n/a	n/a
4	POLR2A	chr4:1282492-1282918	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:1282341-1283929	GM12878	blood:	n/a	n/a
6	MXI1	chr4:1282249-1284891	SK-N-SH	brain:	n/a	n/a
7	MTA3	chr4:1282201-1282908	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1282578-1284850	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F4	chr4:1282600-1283844	MCF10A-Er-Src	breast:	n/a	chr4:1283671-1283680 chr4:1283604-1283613 chr4:1283509-1283518 chr4:1283775-1283784
10	HEY1	chr4:1282633-1285480	K562	blood:	n/a	chr4:1283653-1283668 chr4:1284866-1284875 chr4:1283941-1283956 chr4:1283774-1283789 chr4:1284129-1284144 chr4:1284002-1284017
11	POLR2A	chr4:1282403-1284824	K562	blood:	n/a	n/a
12	POLR2A	chr4:1282285-1284046	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
2	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
3	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
4	chr4:1272489..1274226-chr4:1281012..1283397,2	K562	blood:
5	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
6	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
7	chr4:1204791..1207603-chr4:1281765..1283856,2	MCF-7	breast:
8	chr4:964532..968039-chr4:1281587..1285155,3	K562	blood:
9	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
10	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
11	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
12	chr4:1253458..1255471-chr4:1281681..1283215,2	K562	blood:
13	chr4:1159320..1162756-chr4:1282339..1286135,5	K562	blood:
14	chr4:1282479..1284255-chr4:1368607..1370125,2	K562	blood:

Variant related genes	Relation type
MAEA	TF binding region
ENSG00000159692	Chromatin interaction
ENSG00000145214	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000163945	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 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	esv1811773	chr4:1228251-1287474	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	esv1800629	chr4:1228451-1287274	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats 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 target site	51 gene(s)	inside rSNPs	diseases
16	esv1812851	chr4:1228451-1287274	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
17	esv1823612	chr4:1228451-1287274	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
18	esv1825633	chr4:1228451-1287274	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS 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
19	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
20	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
21	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
22	esv1798897	chr4:1265740-1287474	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
23	esv1833294	chr4:1265740-1287474	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	esv1829934	chr4:1265940-1287274	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	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
29	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
30	esv3402251	chr4:1282477-1285325	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
31	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1259400-1283000	Weak transcription	Ovary	ovary
2	chr4:1263800-1282800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:1280400-1282800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:1281000-1283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:1282400-1282800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:1282400-1282800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:1282400-1282800	Enhancers	Primary B cells from cord blood	blood
8	chr4:1282400-1282800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:1282400-1282800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:1282400-1282800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:1282400-1282800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:1282400-1282800	Enhancers	Liver	Liver
13	chr4:1282400-1282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:1282400-1282800	Enhancers	Fetal Muscle Trunk	muscle
15	chr4:1282400-1282800	Enhancers	Fetal Muscle Leg	muscle
16	chr4:1282400-1282800	Enhancers	Fetal Thymus	thymus
17	chr4:1282400-1282800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:1282400-1282800	Enhancers	Stomach Mucosa	stomach
19	chr4:1282400-1282800	Enhancers	Thymus	Thymus
20	chr4:1282400-1282800	Flanking Active TSS	GM12878-XiMat	blood
21	chr4:1282400-1282800	Enhancers	HUVEC	blood vessel
22	chr4:1282400-1282800	Enhancers	NHDF-Ad	bronchial
23	chr4:1282400-1282800	Enhancers	NHLF	lung
24	chr4:1282400-1283000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:1282400-1283000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:1282400-1283000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:1282400-1283000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:1282400-1283000	Enhancers	Fetal Heart	heart
29	chr4:1282400-1283000	Enhancers	Left Ventricle	heart
30	chr4:1282400-1283000	Enhancers	Pancreas	Pancrea
31	chr4:1282400-1283000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:1282400-1283000	Enhancers	Spleen	Spleen
33	chr4:1282400-1283000	Flanking Active TSS	Dnd41	blood
34	chr4:1282400-1285200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:1282600-1282800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:1282600-1282800	Enhancers	Primary T cells from cord blood	blood
37	chr4:1282600-1282800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:1282600-1282800	Enhancers	Adipose Nuclei	Adipose
39	chr4:1282600-1282800	Enhancers	Brain Germinal Matrix	brain
40	chr4:1282600-1282800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr4:1282600-1282800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr4:1282600-1282800	Enhancers	Colon Smooth Muscle	Colon
43	chr4:1282600-1282800	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:1282600-1282800	Enhancers	Fetal Intestine Small	intestine
45	chr4:1282600-1282800	Flanking Active TSS	Fetal Kidney	kidney
46	chr4:1282600-1282800	Enhancers	Fetal Lung	lung
47	chr4:1282600-1282800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:1282600-1282800	Enhancers	Rectal Smooth Muscle	rectum
49	chr4:1282600-1282800	Enhancers	Right Ventricle	heart
50	chr4:1282600-1282800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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