Variant report

Variant	rs567332514
Chromosome Location	chr4:148764750-148764751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148681067..148682789-chr4:148764324..148765969,2	MCF-7	breast:
2	chr4:148652686..148654592-chr4:148763097..148764811,2	MCF-7	breast:
3	chr4:148764386..148764894-chr4:148787805..148788335,2	MCF-7	breast:
4	chr11:65028482..65030482-chr4:148764578..148767409,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148746400-148768000	Weak transcription	Fetal Intestine Small	intestine
4	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
5	chr4:148753200-148765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:148753200-148767800	Weak transcription	Small Intestine	intestine
7	chr4:148753400-148765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:148753400-148782000	Weak transcription	Gastric	stomach
9	chr4:148754000-148766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:148754400-148769000	Weak transcription	NHLF	lung
11	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
12	chr4:148756400-148766000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:148756400-148768000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:148756800-148766200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:148756800-148777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148757400-148767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:148757400-148767600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:148757600-148766200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:148761200-148764800	Enhancers	Fetal Muscle Leg	muscle
20	chr4:148761400-148767800	Weak transcription	Fetal Kidney	kidney
21	chr4:148761800-148765200	Enhancers	Right Atrium	heart
22	chr4:148762200-148767400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:148762400-148767000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:148762400-148770000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:148762400-148771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148762600-148767600	Weak transcription	Fetal Lung	lung
27	chr4:148762800-148775400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:148763000-148765000	Enhancers	Fetal Muscle Trunk	muscle
29	chr4:148763000-148765200	Enhancers	Left Ventricle	heart
30	chr4:148763000-148765200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:148763200-148768000	Weak transcription	HUVEC	blood vessel
32	chr4:148763200-148771000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:148763600-148764800	Enhancers	K562	blood
35	chr4:148763800-148765200	Enhancers	Right Ventricle	heart
36	chr4:148763800-148776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:148764200-148765000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr4:148764200-148768000	Weak transcription	Fetal Heart	heart
39	chr4:148764200-148768200	Weak transcription	Adipose Nuclei	Adipose
40	chr4:148764200-148768200	Weak transcription	NHDF-Ad	bronchial
41	chr4:148764400-148765200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:148764400-148765200	Enhancers	GM12878-XiMat	blood
43	chr4:148764400-148766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:148764400-148767800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:148764400-148768000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148764400-148770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:148764400-148786000	Weak transcription	NH-A	brain
48	chr4:148764400-148787000	Weak transcription	NHEK	skin
49	chr4:148764600-148764800	Enhancers	HSMM	muscle
50	chr4:148764600-148765000	Weak transcription	Psoas Muscle	Psoas

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