Variant report

Variant	rs188342130
Chromosome Location	chr4:125632713-125632714
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125630101..125632893-chr4:125662563..125664427,2	K562	blood:
2	chr4:125355738..125360405-chr4:125631320..125634850,4	MCF-7	breast:
3	chr4:125601250..125602938-chr4:125631120..125633142,2	K562	blood:
4	chr4:125631616..125633726-chr4:125883727..125886839,4	MCF-7	breast:
5	chr4:125252420..125254567-chr4:125631458..125633343,2	MCF-7	breast:
6	chr4:125587788..125590476-chr4:125631233..125632777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248506	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343011	chr4:125632527-125635375	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125625600-125633000	Weak transcription	Small Intestine	intestine
2	chr4:125629200-125632800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:125629600-125633400	Active TSS	Right Atrium	heart
4	chr4:125630000-125634800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:125630600-125635000	Active TSS	A549	lung
6	chr4:125630600-125635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:125630800-125633400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:125631000-125633000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:125631000-125633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:125631000-125633200	Flanking Active TSS	Dnd41	blood
11	chr4:125631000-125634200	Active TSS	Placenta	Placenta
12	chr4:125631200-125633200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:125631200-125633200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:125631200-125634600	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:125631400-125634600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:125631600-125632800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr4:125631600-125633000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:125631600-125634200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:125631600-125634200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:125631600-125634400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr4:125631600-125634400	Active TSS	Fetal Brain Female	brain
22	chr4:125631600-125634600	Active TSS	Fetal Muscle Trunk	muscle
23	chr4:125631600-125634600	Active TSS	Fetal Muscle Leg	muscle
24	chr4:125631600-125634600	Active TSS	Gastric	stomach
25	chr4:125631600-125634600	Active TSS	Lung	lung
26	chr4:125631600-125634600	Active TSS	NHLF	lung
27	chr4:125631600-125634800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:125631600-125634800	Active TSS	Aorta	Aorta
29	chr4:125631600-125634800	Active TSS	Ovary	ovary
30	chr4:125631600-125634800	Active TSS	Right Ventricle	heart
31	chr4:125631800-125633000	Weak transcription	Spleen	Spleen
32	chr4:125631800-125634200	Active TSS	NHDF-Ad	bronchial
33	chr4:125631800-125634400	Active TSS	Fetal Intestine Small	intestine
34	chr4:125631800-125634400	Active TSS	HSMM	muscle
35	chr4:125631800-125634600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:125631800-125634800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:125631800-125634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:125631800-125634800	Active TSS	Stomach Smooth Muscle	stomach
39	chr4:125632000-125632800	Active TSS	Brain Germinal Matrix	brain
40	chr4:125632000-125633200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:125632000-125633200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:125632000-125633400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:125632000-125633400	Active TSS	Fetal Brain Male	brain
44	chr4:125632000-125634200	Active TSS	NH-A	brain
45	chr4:125632000-125634400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr4:125632000-125634600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:125632000-125634600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:125632000-125634600	Active TSS	Brain Angular Gyrus	brain
49	chr4:125632000-125634600	Active TSS	Colon Smooth Muscle	Colon
50	chr4:125632000-125634600	Active TSS	Fetal Stomach	stomach

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