Variant report

Variant	rs28714502
Chromosome Location	chr4:47033241-47033242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr4:47033234-47033458	GM12878	blood:	n/a	chr4:47033357-47033374 chr4:47033361-47033375
2	CTCF	chr4:47033140-47033290	HEEpiC	esophagus:	n/a	n/a
3	SIN3A	chr4:47032958-47035027	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47033197-47033247	SK-N-MC	brain:	n/a
2	chr4:47033197-47033247	HRPEpiC	eye:	n/a
3	chr4:47033197-47033247	HMEC	breast:	n/a
4	chr4:47033197-47033247	NHBE	bronchial:	n/a
5	chr4:47033197-47033247	GM12892	blood:	n/a
6	chr4:47033197-47033247	ovcar-3	ovarian:	n/a
7	chr4:47033197-47033247	HAEpiC	amniotic membrane:	n/a
8	chr4:47033197-47033247	HCT-116	colon:	n/a
9	chr4:47033197-47033247	NB4	blood:	n/a
10	chr4:47033197-47033247	HEK293	kidney:	embryo
11	chr4:47033197-47033247	PANC-1	pancreas:	n/a
12	chr4:47033197-47033247	CMK	blood:	n/a
13	chr4:47033197-47033247	HUVEC	blood vessel:	n/a
14	chr4:47033197-47033247	HCF	heart:	n/a
15	chr4:47033197-47033247	HNPCEpiC	eye:	n/a
16	chr4:47033197-47033247	IMR90	lung:	fetal
17	chr4:47033197-47033247	HCPEpiC	choroid plexus:	n/a
18	chr4:47033197-47033247	H1-hESC	embryonic stem cell:	embryo
19	chr4:47033197-47033247	PFSK-1	brain:	n/a
20	chr4:47033197-47033247	LNCaP	prostate:	n/a
21	chr4:47033197-47033247	Jurkat	blood:	n/a
22	chr4:47033197-47033247	U87	brain:	n/a
23	chr4:47033197-47033247	GM06990	blood:	n/a
24	chr4:47033197-47033247	MCF-7	breast:	n/a
25	chr4:47033197-47033247	T-47D	breast:	n/a
26	chr4:47033197-47033247	AG09319	gingival:	n/a
27	chr4:47033197-47033247	Caco-2	colon:	n/a
28	chr4:47033197-47033247	HL-60	blood:	n/a
29	chr4:47033197-47033247	Hepatocyte	liver:	n/a
30	chr4:47033197-47033247	ProgFib	skin:	n/a
31	chr4:47033197-47033247	AG09309	skin:	n/a
32	chr4:47033197-47033247	AG04450	lung:	fetal
33	chr4:47033197-47033247	Hela-S3	cervix:	n/a
34	chr4:47033197-47033247	BE2_C	brain:	n/a
35	chr4:47033197-47033247	GM12891	blood:	n/a
36	chr4:47033197-47033247	K562	blood:	n/a
37	chr4:47033197-47033247	A549	lung:	n/a
38	chr4:47033197-47033247	HRE	kidney:	n/a
39	chr4:47033197-47033247	SK-N-SH_RA	brain:	n/a
40	chr4:47033197-47033247	NH-A	brain:	n/a
41	chr4:47033197-47033247	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:47033197-47033247	HRCEpiC	kidney:	n/a
43	chr4:47033197-47033247	RPTEC	kidney:	n/a
44	chr4:47033197-47033247	SK-N-SH	brain:	n/a
45	chr4:47033197-47033247	PrEC	prostate:	n/a
46	chr4:47033197-47033247	SAEC	small airway:	n/a
47	chr4:47033197-47033247	HepG2	liver:	n/a
48	chr4:47033197-47033247	AG04449	skin:	fetal
49	chr4:47033197-47033247	MCF10A-Er-Src	breast:	n/a
50	chr4:47033197-47033247	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
GABRB1	TF binding region
GABRB1	CpG island

rs_ID	r²[population]
rs10032502	0.95[AFR][1000 genomes]
rs28378024	0.90[AFR][1000 genomes]
rs28421329	0.95[AFR][1000 genomes]
rs28429202	0.97[AFR][1000 genomes]
rs28444100	1.00[AFR][1000 genomes]
rs55840260	0.95[AFR][1000 genomes]

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47032600-47033400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr4:47032600-47033400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:47032600-47033600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr4:47032600-47033600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:47032600-47035200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:47032800-47033600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:47032800-47033600	Active TSS	NH-A	brain
8	chr4:47032800-47035000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:47032800-47035000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:47032800-47035200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:47032800-47035200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:47032800-47035400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:47032800-47035800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:47032800-47036000	Active TSS	Brain Hippocampus Middle	brain
15	chr4:47032800-47036200	Active TSS	Brain Anterior Caudate	brain
16	chr4:47033000-47033400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:47033000-47033400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr4:47033000-47033400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:47033000-47033400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr4:47033000-47033400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr4:47033000-47033400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:47033000-47033400	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr4:47033000-47033400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr4:47033000-47033600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:47033000-47033800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:47033000-47033800	Active TSS	Left Ventricle	heart
27	chr4:47033000-47034200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:47033000-47034200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr4:47033000-47034400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:47033000-47034400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:47033000-47034600	Active TSS	Aorta	Aorta
32	chr4:47033000-47034600	Active TSS	Right Ventricle	heart
33	chr4:47033000-47034800	Active TSS	Brain Cingulate Gyrus	brain
34	chr4:47033000-47035000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:47033000-47035000	Active TSS	Right Atrium	heart
36	chr4:47033000-47035200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:47033000-47035200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:47033000-47035400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:47033000-47035400	Active TSS	Brain Substantia Nigra	brain
40	chr4:47033000-47035800	Active TSS	Brain Angular Gyrus	brain
41	chr4:47033000-47036600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:47033200-47033400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:47033200-47033400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:47033200-47033400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr4:47033200-47033400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr4:47033200-47033400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:47033200-47033400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr4:47033200-47033400	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
49	chr4:47033200-47033400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:47033200-47033400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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