Variant report

Variant	rs568908116
Chromosome Location	chr4:1238793-1238794
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:20)
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	chr4:1238659-1238849	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr4:1238740-1239136	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:1238717-1239884	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:1238772-1239205	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:1238637-1239216	GM12892	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1236665..1239012-chr4:1297497..1299590,2	K562	blood:
2	chr4:1207048..1210414-chr4:1237792..1241348,3	K562	blood:
3	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
4	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
5	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
6	chr4:1238103..1240544-chr4:1359472..1361633,2	MCF-7	breast:
7	chr4:1238327..1240234-chr4:1330043..1332552,2	MCF-7	breast:
8	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
9	chr4:1049115..1051492-chr4:1235735..1239693,3	MCF-7	breast:
10	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
11	chr4:1236923..1239811-chr4:1291885..1294129,2	K562	blood:
12	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
13	chr4:1104788..1106753-chr4:1236973..1238872,2	K562	blood:
14	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
15	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
16	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:
17	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
18	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
19	chr4:1209959..1212251-chr4:1238476..1240905,2	MCF-7	breast:
20	chr4:1205790..1207359-chr4:1237048..1239471,2	K562	blood:

No data

Variant related genes	Relation type
CTBP1	TF binding region
CTBP1-AS2	TF binding region
ENSG00000127415	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000250259	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000090316	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	esv1844406	chr4:1230397-1243775	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
28	esv1836927	chr4:1231363-1244037	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription 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	43 gene(s)	inside rSNPs	diseases
29	esv1838677	chr4:1231540-1274734	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
30	nsv822433	chr4:1232688-1246206	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
31	nsv878334	chr4:1232910-1254930	Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
32	esv1839490	chr4:1237014-1254930	Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
33	nsv878335	chr4:1237014-1254930	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic 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	42 gene(s)	inside rSNPs	diseases
34	nsv593282	chr4:1238363-1243573	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1219000-1240200	Weak transcription	Hela-S3	cervix
2	chr4:1221600-1240200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:1222000-1240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:1225000-1240200	Weak transcription	K562	blood
5	chr4:1228400-1240000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:1228800-1239400	Weak transcription	Fetal Brain Male	brain
7	chr4:1229200-1240400	Weak transcription	Fetal Kidney	kidney
8	chr4:1229600-1239600	Weak transcription	HSMM	muscle
9	chr4:1230000-1240400	Weak transcription	HSMMtube	muscle
10	chr4:1233400-1240600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:1234000-1238800	Weak transcription	NH-A	brain
12	chr4:1234200-1239400	Weak transcription	Osteobl	bone
13	chr4:1234600-1240400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:1234600-1240800	Genic enhancers	Spleen	Spleen
15	chr4:1234800-1238800	Weak transcription	HMEC	breast
16	chr4:1234800-1240000	Genic enhancers	Fetal Intestine Large	intestine
17	chr4:1235000-1239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:1235000-1240800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
20	chr4:1235200-1240000	Weak transcription	A549	lung
21	chr4:1235200-1240000	Weak transcription	HUVEC	blood vessel
22	chr4:1235200-1240200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:1235200-1240400	Enhancers	Liver	Liver
24	chr4:1235200-1240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:1235400-1239000	Weak transcription	NHEK	skin
26	chr4:1235400-1240200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:1235400-1240200	Enhancers	Left Ventricle	heart
28	chr4:1235400-1240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:1235400-1240600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr4:1235400-1240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:1235600-1240200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:1235600-1240200	Enhancers	Right Ventricle	heart
34	chr4:1235600-1240400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:1235600-1240400	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr4:1235600-1240600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:1235600-1240600	Enhancers	Right Atrium	heart
38	chr4:1235600-1241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:1235600-1241000	Enhancers	Ovary	ovary
40	chr4:1235800-1239800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:1235800-1240200	Enhancers	Adipose Nuclei	Adipose
42	chr4:1235800-1240200	Enhancers	Brain Substantia Nigra	brain
43	chr4:1235800-1240200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr4:1235800-1240400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:1235800-1240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:1235800-1240400	Enhancers	Stomach Mucosa	stomach
47	chr4:1235800-1240800	Enhancers	Brain Angular Gyrus	brain
48	chr4:1236000-1239200	Weak transcription	GM12878-XiMat	blood
49	chr4:1236000-1239600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:1236000-1239800	Enhancers	Brain Hippocampus Middle	brain

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