Variant report

Variant	rs28602867
Chromosome Location	chr4:124668675-124668676
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:124668560-124668710	AG09319	gingival:	n/a	n/a
2	CTCF	chr4:124668580-124668730	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr4:124668540-124668690	AG04449	skin:	n/a	n/a
4	CTCF	chr4:124668600-124668750	Caco-2	colon:	n/a	n/a
5	CTCF	chr4:124668560-124668710	HCT-116	colon:	n/a	n/a
6	CTCF	chr4:124668540-124668690	NB4	blood:	n/a	n/a
7	CTCF	chr4:124668580-124668730	HPF	lung:	n/a	n/a
8	CTCF	chr4:124668660-124668810	HFF-Myc	foreskin:	n/a	n/a
9	RAD21	chr4:124668206-124668746	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr4:124668272-124668703	IMR90	lung:	n/a	n/a
11	CTCF	chr4:124668480-124668730	WI-38	lung:	n/a	n/a
12	CTCF	chr4:124668540-124668690	HCT-116	colon:	n/a	n/a
13	CTCF	chr4:124668580-124668730	HEK293	kidney:	n/a	n/a
14	CTCF	chr4:124668600-124668750	BE2_C	brain:	n/a	n/a
15	CTCF	chr4:124668560-124668710	NHEK	skin:	n/a	n/a
16	CTCF	chr4:124668560-124668710	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr4:124668560-124668710	NHLF	lung:	n/a	n/a
18	CTCF	chr4:124668580-124668730	HMEC	breast:	n/a	n/a
19	CTCF	chr4:124668580-124668730	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr4:124668600-124668750	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr4:124668580-124668730	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr4:124668540-124668690	HMF	breast:	n/a	n/a
23	CTCF	chr4:124668560-124668710	HPF	lung:	n/a	n/a
24	CTCF	chr4:124668580-124668730	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:124668600-124668750	AG04450	lung:	n/a	n/a
26	CTCF	chr4:124668560-124668710	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr4:124668580-124668730	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr4:124668245-124668779	IMR90	lung:	n/a	n/a
29	CTCF	chr4:124668560-124668710	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr4:124668540-124668690	SK-N-SH_RA	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000226655	TF binding region
RPL21P50	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10009361	1.00[AMR][1000 genomes]
rs10031851	1.00[AMR][1000 genomes]
rs6825518	1.00[AMR][1000 genomes]
rs6846982	1.00[AMR][1000 genomes]
rs9995102	1.00[AMR][1000 genomes]
rs9999078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124663600-124676600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:124665200-124670600	Weak transcription	HSMM	muscle
3	chr4:124666200-124670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:124666400-124670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:124666400-124670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:124666400-124670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:124666400-124671000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:124666400-124671200	Weak transcription	Fetal Kidney	kidney
9	chr4:124666400-124671200	Weak transcription	Right Atrium	heart
10	chr4:124666600-124669800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:124666600-124670000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:124666600-124670000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:124666600-124670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:124666600-124670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:124666600-124671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:124666600-124671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:124667000-124670000	Weak transcription	Left Ventricle	heart
18	chr4:124667000-124670600	Weak transcription	Lung	lung
19	chr4:124667200-124669400	Weak transcription	Psoas Muscle	Psoas
20	chr4:124667200-124670000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:124667200-124670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:124667200-124670600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:124667200-124676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:124667400-124670000	Weak transcription	Fetal Lung	lung
25	chr4:124667400-124673200	Weak transcription	Aorta	Aorta
26	chr4:124667800-124670600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:124667800-124672000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:124668200-124671800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:124668200-124671800	Enhancers	Fetal Heart	heart
30	chr4:124668400-124668800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:124668600-124670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:124668600-124670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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