Variant report

Variant	rs527404246
Chromosome Location	chr4:87418930-87418931
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	chr4:87416254..87419616-chr4:87514149..87517840,3	MCF-7	breast:
2	chr4:87416425..87419552-chr4:87420696..87423306,3	K562	blood:

Variant related genes	Relation type
ENSG00000163629	Chromatin interaction
ENSG00000109339	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87407600-87422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:87415000-87427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:87415600-87419000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:87416800-87420400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:87417000-87420200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:87417000-87421600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:87417200-87419600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:87417200-87419800	Enhancers	Brain Hippocampus Middle	brain
9	chr4:87417200-87419800	Enhancers	Brain Substantia Nigra	brain
10	chr4:87417200-87420200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:87417200-87420200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:87417200-87420400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:87417200-87420600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:87417200-87420600	Enhancers	NHEK	skin
15	chr4:87417400-87419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:87417400-87419800	Enhancers	HMEC	breast
17	chr4:87417600-87419600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:87417600-87419800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:87417600-87419800	Enhancers	A549	lung
20	chr4:87417600-87419800	Enhancers	HSMM	muscle
21	chr4:87417600-87420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:87417600-87420600	Enhancers	Fetal Lung	lung
23	chr4:87417600-87420600	Enhancers	NHDF-Ad	bronchial
24	chr4:87418000-87419600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:87418000-87420000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:87418000-87420200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:87418200-87419400	Weak transcription	Hela-S3	cervix
28	chr4:87418200-87419600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:87418200-87422000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:87418400-87419200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:87418400-87419200	Enhancers	Brain Angular Gyrus	brain
32	chr4:87418400-87419200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:87418400-87419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:87418400-87419400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:87418400-87419400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:87418400-87419400	Enhancers	Esophagus	oesophagus
37	chr4:87418400-87419400	Enhancers	Right Atrium	heart
38	chr4:87418400-87419600	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:87418400-87419600	Enhancers	NHLF	lung
40	chr4:87418400-87420000	Enhancers	Osteobl	bone
41	chr4:87418400-87420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:87418400-87420200	Enhancers	Brain Anterior Caudate	brain
43	chr4:87418400-87420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:87418600-87419000	Weak transcription	Fetal Kidney	kidney
45	chr4:87418600-87419400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:87418600-87419400	Enhancers	Psoas Muscle	Psoas
47	chr4:87418600-87419600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:87418600-87419600	Enhancers	Fetal Muscle Leg	muscle
49	chr4:87418600-87419600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:87418600-87420000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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