Variant report

Variant	rs375424436
Chromosome Location	chr4:15656431-15656432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15544533..15546139-chr4:15654596..15656765,2	K562	blood:
2	chr4:15652688..15657004-chr4:15659488..15663550,8	K562	blood:
3	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
4	chr4:15656218..15656918-chr7:45018290..45018877,2	Hela-S3	cervix:
5	chr4:15654775..15659231-chr4:15659761..15666940,9	K562	blood:
6	chr4:15002808..15006132-chr4:15656406..15658114,3	K562	blood:
7	chr4:15655671..15658131-chr4:15716646..15719360,2	MCF-7	breast:
8	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
9	chr4:15656159..15658615-chr4:15712805..15714316,2	K562	blood:
10	chr4:15655590..15657245-chr4:15703796..15706264,2	K562	blood:
11	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
12	chr4:15654963..15657954-chr4:15685988..15688544,3	MCF-7	breast:
13	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:
14	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
15	chr4:15649396..15652390-chr4:15655110..15656784,2	MCF-7	breast:
16	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237765	Chromatin interaction
ENSG00000136286	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000109743	Chromatin interaction
ENSG00000137449	Chromatin interaction
ENSG00000048342	Chromatin interaction
ENSG00000247624	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464809	chr4:15646178-15656952	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3464811	chr4:15646243-15656896	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3464810	chr4:15646249-15656868	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3464812	chr4:15646332-15656829	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3322833	chr4:15655679-15658227	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3351978	chr4:15655904-15658002	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15653400-15656600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr4:15653400-15657600	Active TSS	Right Atrium	heart
3	chr4:15653800-15657200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:15653800-15657200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:15653800-15657600	Active TSS	K562	blood
6	chr4:15654000-15657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:15654200-15657000	Active TSS	HMEC	breast
8	chr4:15654200-15657200	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr4:15654400-15656600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr4:15654400-15657200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:15654400-15657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:15654600-15657200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:15654600-15657200	Active TSS	NHEK	skin
14	chr4:15654600-15657200	Active TSS	NHLF	lung
15	chr4:15654600-15657600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:15654600-15658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:15654600-15658200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:15654800-15656600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:15654800-15657200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:15654800-15657200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:15654800-15657200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:15654800-15657200	Active TSS	HSMM	muscle
23	chr4:15654800-15657200	Active TSS	NHDF-Ad	bronchial
24	chr4:15654800-15657400	Active TSS	Brain Hippocampus Middle	brain
25	chr4:15654800-15657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:15654800-15657600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:15654800-15657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:15654800-15657600	Active TSS	GM12878-XiMat	blood
29	chr4:15654800-15658000	Active TSS	Psoas Muscle	Psoas
30	chr4:15655000-15657200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:15655000-15657200	Active TSS	A549	lung
32	chr4:15655000-15657400	Active TSS	Brain Cingulate Gyrus	brain
33	chr4:15655000-15657600	Active TSS	Aorta	Aorta
34	chr4:15655000-15657800	Active TSS	Left Ventricle	heart
35	chr4:15655000-15657800	Active TSS	Right Ventricle	heart
36	chr4:15655000-15658000	Active TSS	Ovary	ovary
37	chr4:15655200-15657200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr4:15655200-15657200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:15655200-15657200	Active TSS	Fetal Muscle Trunk	muscle
40	chr4:15655200-15657200	Active TSS	Placenta	Placenta
41	chr4:15655200-15657200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr4:15655200-15657200	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:15655200-15657400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:15655200-15657600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:15655200-15657800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:15655600-15657200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:15655600-15657400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:15655600-15657400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:15655600-15657400	Active TSS	Lung	lung
50	chr4:15655600-15657600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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