Variant report

Variant	rs549943275
Chromosome Location	chr4:1223119-1223120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1222640-1223976	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:1222744-1223670	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:1222958-1223238	A549	lung:	n/a	n/a
4	POLR2A	chr4:1222819-1223203	A549	lung:	n/a	n/a
5	POLR2A	chr4:1222845-1224490	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:1222942-1223228	A549	lung:	n/a	n/a
7	POLR2A	chr4:1222814-1223358	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:1223039-1224016	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr4:1222667-1223346	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:1223116-1223211	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:1222656-1224526	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr4:1222733-1224174	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:1222182-1224600	HL-60	blood:	n/a	n/a
14	POLR2A	chr4:1222933-1224339	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:1222886-1223278	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:1222854-1223515	GM19193	blood:	n/a	n/a
17	POLR2A	chr4:1220310-1224704	K562	blood:	n/a	n/a
18	POLR2A	chr4:1222807-1223299	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:1222778-1223382	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr4:1222792-1223350	K562	blood:	n/a	n/a
21	POLR2A	chr4:1222838-1223230	A549	lung:	n/a	n/a
22	POLR2A	chr4:1222830-1223440	GM12892	blood:	n/a	n/a
23	POLR2A	chr4:1222381-1223690	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1195937..1198894-chr4:1221468..1224458,3	K562	blood:
2	chr4:1222400..1224285-chr4:1225598..1228756,4	MCF-7	breast:
3	chr4:1221651..1224397-chr4:1224479..1227066,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTBP1	TF binding region
ENSG00000159692	Chromatin interaction
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	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
8	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
15	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
17	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	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
20	nsv878333	chr4:1193832-1254930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	esv3325177	chr4:1218852-1223550	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3390473	chr4:1223002-1225800	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
2	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
6	chr4:1205000-1226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:1205400-1226800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:1205800-1228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:1206000-1226800	Strong transcription	Fetal Brain Female	brain
10	chr4:1206400-1226800	Strong transcription	Brain Germinal Matrix	brain
11	chr4:1206600-1227600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:1208800-1228000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr4:1210600-1225200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:1211400-1235400	Weak transcription	Small Intestine	intestine
15	chr4:1211600-1235400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:1212600-1225200	Strong transcription	Fetal Muscle Leg	muscle
17	chr4:1212600-1237000	Strong transcription	Dnd41	blood
18	chr4:1213600-1224200	Strong transcription	Placenta	Placenta
19	chr4:1214200-1235600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:1214200-1236800	Strong transcription	Primary T cells from cord blood	blood
21	chr4:1214400-1225000	Strong transcription	Brain Hippocampus Middle	brain
22	chr4:1214400-1225600	Strong transcription	Aorta	Aorta
23	chr4:1214400-1235200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:1214400-1235600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:1214400-1236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:1214400-1238400	Strong transcription	Thymus	Thymus
27	chr4:1214600-1225400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:1214600-1226400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:1214600-1227400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:1214600-1227600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:1214600-1235800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:1214600-1236200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:1215000-1226800	Strong transcription	Colonic Mucosa	Colon
34	chr4:1215000-1235200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:1215000-1236000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:1215400-1225800	Strong transcription	Brain Anterior Caudate	brain
37	chr4:1215400-1226600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:1215400-1236000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:1215800-1226600	Strong transcription	Fetal Stomach	stomach
40	chr4:1215800-1235600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:1216400-1227800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:1216400-1227800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:1216400-1235400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:1216400-1236000	Strong transcription	Fetal Thymus	thymus
45	chr4:1216600-1227200	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr4:1216600-1236000	Strong transcription	GM12878-XiMat	blood
47	chr4:1216800-1225800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:1217000-1226800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr4:1217000-1226800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:1217200-1224600	Strong transcription	Rectal Smooth Muscle	rectum

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