Variant report

Variant	rs1993192
Chromosome Location	chr4:124342698-124342699
allele	C/G
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	chr4:124340419..124342149-chr4:124342290..124345121,2	MCF-7	breast:
3	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:

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	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
5	nsv516959	chr4:124342509-124344717	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
2	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:124337800-124343000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:124339000-124343800	Enhancers	Fetal Intestine Large	intestine
5	chr4:124339200-124343800	Enhancers	Fetal Intestine Small	intestine
6	chr4:124339200-124349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:124340000-124344800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:124340200-124342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:124340200-124342800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:124340200-124342800	Weak transcription	Stomach Mucosa	stomach
11	chr4:124340400-124343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:124340400-124343600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:124340600-124342800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:124340600-124343000	Weak transcription	GM12878-XiMat	blood
15	chr4:124340600-124343600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:124340600-124348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:124340800-124343000	Enhancers	Fetal Thymus	thymus
18	chr4:124340800-124343400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:124341600-124344400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:124341800-124342800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:124341800-124344400	Weak transcription	Small Intestine	intestine
22	chr4:124342200-124343000	Enhancers	Primary T cells from cord blood	blood
23	chr4:124342400-124342800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:124342400-124343000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:124342400-124343000	Enhancers	Fetal Lung	lung
26	chr4:124342400-124343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:124342400-124343200	Enhancers	Hela-S3	cervix
28	chr4:124342400-124343200	Enhancers	Osteobl	bone
29	chr4:124342400-124343400	Enhancers	HSMM	muscle
30	chr4:124342400-124343600	Flanking Active TSS	K562	blood
31	chr4:124342400-124343800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:124342600-124343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:124342600-124343000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:124342600-124343200	Enhancers	NHLF	lung
35	chr4:124342600-124343400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr4:124342600-124343600	Enhancers	HUVEC	blood vessel
37	chr4:124342600-124343800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:124342600-124343800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:124342600-124344000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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