Variant report

Variant	rs192760748
Chromosome Location	chr4:124333733-124333734
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	chr4:124319548..124321314-chr4:124331962..124333855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164056	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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv293467	chr4:124332747-124335560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124321400-124337200	Weak transcription	A549	lung
2	chr4:124321800-124337400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:124322400-124334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:124323600-124334400	Weak transcription	Gastric	stomach
6	chr4:124323800-124337400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:124324000-124334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:124324000-124334000	Weak transcription	NHDF-Ad	bronchial
10	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:124324400-124334200	Weak transcription	Spleen	Spleen
13	chr4:124324400-124337200	Weak transcription	Ovary	ovary
14	chr4:124324600-124334000	Weak transcription	Aorta	Aorta
15	chr4:124324600-124334200	Weak transcription	Fetal Stomach	stomach
16	chr4:124324600-124334400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:124324600-124337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:124324600-124337200	Weak transcription	HMEC	breast
19	chr4:124324800-124337200	Weak transcription	Placenta	Placenta
20	chr4:124326200-124333800	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:124326600-124334000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:124326600-124336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:124326800-124334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:124327000-124334400	Weak transcription	HUVEC	blood vessel
25	chr4:124327000-124336800	Weak transcription	HSMM	muscle
26	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
27	chr4:124328400-124335000	Weak transcription	Stomach Mucosa	stomach
28	chr4:124328400-124337400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:124330000-124333800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:124330200-124334400	Weak transcription	Small Intestine	intestine
31	chr4:124331000-124334000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:124331200-124337400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:124331600-124337400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:124332600-124336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:124332600-124337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:124332800-124334200	Enhancers	HepG2	liver
37	chr4:124332800-124334400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:124332800-124334400	Enhancers	Fetal Muscle Leg	muscle
39	chr4:124332800-124334400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:124332800-124334600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:124332800-124334600	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:124332800-124334600	Enhancers	Fetal Lung	lung
43	chr4:124332800-124334600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:124332800-124334800	Enhancers	Primary B cells from cord blood	blood
45	chr4:124332800-124335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:124332800-124335200	Enhancers	Fetal Intestine Small	intestine
47	chr4:124332800-124335600	Enhancers	Fetal Thymus	thymus
48	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:124333000-124334000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:124333000-124334200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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