Variant report

Variant	rs141475472
Chromosome Location	chr4:144332622-144332623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr4:144332587-144333083	SK-N-SH	brain:	n/a	n/a
2	FOS	chr4:144332607-144333249	HUVEC	blood vessel:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
3	PBX3	chr4:144332574-144333074	SK-N-SH	brain:	n/a	n/a
4	KAP1	chr4:144332615-144333829	U2OS	brain:	n/a	chr4:144332731-144332739
5	GATA3	chr4:144332487-144333181	SK-N-SH	brain:	n/a	chr4:144333145-144333155

No.	Distal block	Cell Line	Cell type
1	chr4:144326817..144330491-chr4:144331809..144335886,3	K562	blood:
2	chr4:144325793..144327781-chr4:144331257..144333636,2	K562	blood:
3	chr4:144323082..144326109-chr4:144328111..144333169,4	K562	blood:
4	chr4:144331208..144333292-chr4:144334225..144336721,2	MCF-7	breast:

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000109458	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	esv3350095	chr4:144332474-144333034	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144312800-144336800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144318200-144337000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:144319200-144336600	Weak transcription	Fetal Kidney	kidney
5	chr4:144322200-144334000	Enhancers	Fetal Heart	heart
6	chr4:144323200-144335800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:144324600-144332800	Weak transcription	HSMM	muscle
8	chr4:144324800-144333200	Weak transcription	Fetal Brain Female	brain
9	chr4:144324800-144336800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:144326000-144336600	Weak transcription	Placenta	Placenta
11	chr4:144326200-144337200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:144326600-144336600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:144326800-144333400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:144327200-144337200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:144327400-144332800	Enhancers	Brain Substantia Nigra	brain
16	chr4:144327600-144337800	Weak transcription	Colonic Mucosa	Colon
17	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:144327800-144388200	Weak transcription	HepG2	liver
19	chr4:144328000-144333000	Weak transcription	Stomach Mucosa	stomach
20	chr4:144328000-144333600	Enhancers	Colon Smooth Muscle	Colon
21	chr4:144328000-144336400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:144328000-144338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:144328000-144338800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:144328000-144346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
26	chr4:144328200-144332800	Weak transcription	Fetal Stomach	stomach
27	chr4:144328200-144333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:144328600-144337000	Weak transcription	Liver	Liver
29	chr4:144328800-144340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:144329000-144336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:144329000-144359400	Weak transcription	K562	blood
32	chr4:144329200-144338200	Weak transcription	Primary B cells from cord blood	blood
33	chr4:144329400-144336200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:144329400-144336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:144329400-144337200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:144329400-144338600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:144329800-144336400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:144329800-144336600	Weak transcription	Fetal Lung	lung
39	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:144330000-144334200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:144330200-144333000	Enhancers	Right Ventricle	heart
42	chr4:144330200-144334000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:144331200-144332800	Enhancers	Left Ventricle	heart
44	chr4:144331200-144333000	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:144331200-144333400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:144331400-144332800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:144331400-144334000	Enhancers	HUVEC	blood vessel
48	chr4:144331600-144333400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:144331600-144334000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:144331600-144334800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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