Variant report

Variant	rs139921547
Chromosome Location	chr4:57063418-57063419
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	chr4:57054944..57056829-chr4:57061059..57063842,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:57050000-57076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
4	chr4:57050200-57063600	Weak transcription	HepG2	liver
5	chr4:57050600-57075800	Weak transcription	Ovary	ovary
6	chr4:57053600-57074200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:57054200-57072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:57054200-57077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:57057000-57076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:57057000-57076400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:57057600-57065400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:57057600-57077400	Weak transcription	Fetal Brain Female	brain
13	chr4:57057800-57070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:57057800-57071000	Weak transcription	Brain Germinal Matrix	brain
15	chr4:57058000-57066000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:57058000-57068000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:57058000-57069200	Weak transcription	Fetal Stomach	stomach
18	chr4:57058000-57069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:57059200-57072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:57059400-57072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:57062200-57064600	Enhancers	Fetal Intestine Small	intestine
22	chr4:57062200-57064800	Enhancers	Fetal Intestine Large	intestine
23	chr4:57062600-57063600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:57062600-57064600	Enhancers	Duodenum Mucosa	Duodenum
25	chr4:57062600-57066800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:57062800-57063600	Weak transcription	Small Intestine	intestine
27	chr4:57063000-57063600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
29	chr4:57063400-57063800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:57063400-57063800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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