Variant report

Variant	rs575183100
Chromosome Location	chr4:124339476-124339477
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124338250..124340040-chr4:124341621..124343166,2	K562	blood:
2	chr4:124331362..124333358-chr4:124337314..124340093,2	K562	blood:
3	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:

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	nsv595379	chr4:124337522-124395024	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
3	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:124333800-124342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:124334000-124339600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:124334800-124339600	Weak transcription	Small Intestine	intestine
7	chr4:124335000-124339600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:124335000-124339800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:124336000-124339800	Weak transcription	Colonic Mucosa	Colon
10	chr4:124336000-124340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:124336600-124340600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:124336800-124339800	Enhancers	HSMM	muscle
13	chr4:124336800-124340200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:124336800-124340200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:124336800-124340600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:124336800-124340800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:124336800-124340800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:124337000-124340200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:124337000-124340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:124337000-124340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:124337000-124341000	Enhancers	Hela-S3	cervix
22	chr4:124337200-124340000	Enhancers	Fetal Muscle Leg	muscle
23	chr4:124337200-124340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:124337400-124339600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:124337600-124342400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:124337800-124339600	Weak transcription	Placenta	Placenta
27	chr4:124337800-124339600	Weak transcription	Stomach Mucosa	stomach
28	chr4:124337800-124343000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:124338000-124339600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:124338000-124339600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:124338000-124339600	Weak transcription	Thymus	Thymus
32	chr4:124338000-124340200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:124338000-124340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:124338600-124339600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:124338800-124339600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:124338800-124339600	Enhancers	HMEC	breast
37	chr4:124338800-124339600	Enhancers	HSMMtube	muscle
38	chr4:124338800-124340400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:124338800-124340400	Enhancers	NH-A	brain
40	chr4:124339000-124339600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:124339000-124340000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:124339000-124340200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:124339000-124340200	Enhancers	Adipose Nuclei	Adipose
44	chr4:124339000-124340200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:124339000-124340200	Enhancers	Fetal Lung	lung
46	chr4:124339000-124340200	Enhancers	NHLF	lung
47	chr4:124339000-124340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:124339000-124343800	Enhancers	Fetal Intestine Large	intestine
49	chr4:124339200-124339600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:124339200-124339600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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