Variant report

Variant	rs56401136
Chromosome Location	chr4:1194630-1194631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1193384..1195405-chr4:1352251..1354490,2	K562	blood:
2	chr4:1192255..1195518-chr4:1197581..1201308,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159674	Chromatin interaction
ENSG00000253399	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1250088	0.83[EUR][1000 genomes]
rs1250103	0.92[EUR][1000 genomes]
rs1250125	0.85[EUR][1000 genomes]
rs1265922	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56401136	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs56401136	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1185000-1204200	Enhancers	Fetal Muscle Leg	muscle
2	chr4:1185800-1196200	Weak transcription	Small Intestine	intestine
3	chr4:1187000-1197200	Weak transcription	HepG2	liver
4	chr4:1189400-1194800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:1193200-1197600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:1193400-1194800	Bivalent Enhancer	Placenta	Placenta
7	chr4:1193400-1194800	Transcr. at gene 5' and 3'	NHLF	lung
8	chr4:1193400-1195000	Bivalent Enhancer	Fetal Stomach	stomach
9	chr4:1193400-1195400	Flanking Active TSS	GM12878-XiMat	blood
10	chr4:1193400-1197000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr4:1193400-1197200	Enhancers	Fetal Lung	lung
12	chr4:1193400-1197600	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:1193600-1195000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:1193600-1195400	Flanking Active TSS	NHDF-Ad	bronchial
15	chr4:1193600-1196600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:1193600-1197000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr4:1193600-1197400	Enhancers	Lung	lung
18	chr4:1193800-1195200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:1193800-1195200	Enhancers	Stomach Mucosa	stomach
20	chr4:1193800-1195400	Enhancers	Fetal Intestine Large	intestine
21	chr4:1193800-1195400	Flanking Active TSS	Thymus	Thymus
22	chr4:1193800-1195800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:1193800-1196600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr4:1193800-1196800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:1194000-1194800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:1194000-1194800	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:1194000-1194800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:1194000-1194800	Enhancers	Ovary	ovary
29	chr4:1194000-1194800	Enhancers	Osteobl	bone
30	chr4:1194000-1195000	Enhancers	Primary B cells from cord blood	blood
31	chr4:1194000-1195200	Flanking Active TSS	Esophagus	oesophagus
32	chr4:1194000-1195400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:1194000-1195400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:1194000-1195400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr4:1194000-1195400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr4:1194000-1196400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr4:1194200-1194800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:1194200-1194800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:1194200-1194800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:1194200-1194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:1194200-1195000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:1194200-1195000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr4:1194200-1195000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:1194200-1195200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr4:1194200-1195200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:1194200-1195200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:1194200-1195200	Flanking Active TSS	Spleen	Spleen
48	chr4:1194200-1195400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:1194200-1195400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr4:1194200-1195400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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