Variant report

Variant	rs28921123
Chromosome Location	chr6:24126112-24126113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:24126032-24127630	H1-neurons	neurons:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24126250-24126263 chr6:24127186-24127204 chr6:24127185-24127199
2	MXI1	chr6:24125859-24127958	SK-N-SH	brain:	n/a	n/a
3	EP300	chr6:24125655-24128041	SK-N-SH	brain:	n/a	chr6:24127280-24127294 chr6:24127113-24127123
4	RUNX3	chr6:24125915-24126127	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24126066-24126116	HRPEpiC	eye:	n/a
2	chr6:24126066-24126116	PFSK-1	brain:	n/a
3	chr6:24126066-24126116	AG10803	skin:	n/a
4	chr6:24126066-24126116	RPTEC	kidney:	n/a
5	chr6:24126066-24126116	ProgFib	skin:	n/a
6	chr6:24126066-24126116	NT2-D1	testis:	n/a
7	chr6:24126066-24126116	HAEpiC	amniotic membrane:	n/a
8	chr6:24126066-24126116	SK-N-SH_RA	brain:	n/a
9	chr6:24126066-24126116	K562	blood:	n/a
10	chr6:24126066-24126116	HUVEC	blood vessel:	n/a
11	chr6:24126066-24126116	U87	brain:	n/a
12	chr6:24126066-24126116	AG04449	skin:	fetal
13	chr6:24126066-24126116	HRE	kidney:	n/a
14	chr6:24126066-24126116	AG04450	lung:	fetal
15	chr6:24126066-24126116	SK-N-MC	brain:	n/a
16	chr6:24126066-24126116	Caco-2	colon:	n/a
17	chr6:24126066-24126116	HMEC	breast:	n/a
18	chr6:24126066-24126116	NB4	blood:	n/a
19	chr6:24126066-24126116	AG09309	skin:	n/a
20	chr6:24126066-24126116	BJ	skin:	n/a
21	chr6:24126066-24126116	HepG2	liver:	n/a
22	chr6:24126066-24126116	BE2_C	brain:	n/a
23	chr6:24126066-24126116	A549	lung:	n/a
24	chr6:24126066-24126116	ECC-1	luminal epithelium:	n/a
25	chr6:24126066-24126116	HRCEpiC	kidney:	n/a
26	chr6:24126066-24126116	HCM	heart:	n/a
27	chr6:24126066-24126116	MCF-7	breast:	n/a
28	chr6:24126066-24126116	HCPEpiC	choroid plexus:	n/a
29	chr6:24126066-24126116	H1-hESC	embryonic stem cell:	embryo
30	chr6:24126066-24126116	HEK293	kidney:	embryo
31	chr6:24126066-24126116	HIPEpiC	eye:	n/a
32	chr6:24126066-24126116	HNPCEpiC	eye:	n/a
33	chr6:24126066-24126116	NHDF-neo	bronchial:	n/a
34	chr6:24126066-24126116	LNCaP	prostate:	n/a
35	chr6:24126066-24126116	SK-N-SH	brain:	n/a
36	chr6:24126066-24126116	NH-A	brain:	n/a
37	chr6:24126066-24126116	IMR90	lung:	fetal
38	chr6:24126066-24126116	NHBE	bronchial:	n/a
39	chr6:24126066-24126116	Hela-S3	cervix:	n/a
40	chr6:24126066-24126116	HCF	heart:	n/a
41	chr6:24126066-24126116	GM06990	blood:	n/a
42	chr6:24126066-24126116	CMK	blood:	n/a
43	chr6:24126066-24126116	ovcar-3	ovarian:	n/a
44	chr6:24126066-24126116	HL-60	blood:	n/a
45	chr6:24126066-24126116	PANC-1	pancreas:	n/a
46	chr6:24126066-24126116	Hepatocyte	liver:	n/a
47	chr6:24126066-24126116	AoSMC	blood vessel:	n/a
48	chr6:24126066-24126116	AG09319	gingival:	n/a
49	chr6:24126066-24126116	SKMC	muscle:	n/a
50	chr6:24126066-24126116	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24108450..24111136-chr6:24124109..24126297,2	K562	blood:
2	chr6:24119759..24121969-chr6:24123709..24126349,2	K562	blood:

No data

Variant related genes	Relation type
NRSN1	TF binding region
NRSN1	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1343625	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328816	1.00[ASN][1000 genomes]
rs55905647	1.00[ASN][1000 genomes]
rs62400306	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400307	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400321	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922632	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934526	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24101000-24126200	Weak transcription	Pancreas	Pancrea
2	chr6:24125800-24126200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:24125800-24126400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr6:24125800-24126400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:24125800-24126400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:24125800-24126800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:24125800-24127800	Active TSS	Brain Angular Gyrus	brain
8	chr6:24126000-24126200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:24126000-24126200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr6:24126000-24126200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr6:24126000-24126200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr6:24126000-24126200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr6:24126000-24126200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:24126000-24126200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:24126000-24126200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:24126000-24126200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:24126000-24126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:24126000-24126200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:24126000-24126200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr6:24126000-24126200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:24126000-24126200	Flanking Active TSS	Fetal Brain Male	brain
22	chr6:24126000-24126200	Flanking Active TSS	Fetal Brain Female	brain
23	chr6:24126000-24126200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr6:24126000-24126200	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
25	chr6:24126000-24126200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr6:24126000-24126200	Flanking Active TSS	HepG2	liver
27	chr6:24126000-24126400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:24126000-24126400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:24126000-24126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:24126000-24126400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:24126000-24126400	Enhancers	Brain Substantia Nigra	brain
32	chr6:24126000-24126400	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr6:24126000-24126400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:24126000-24126800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:24126000-24127000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr6:24126000-24127200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:24126000-24127200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:24126000-24127200	Active TSS	Brain Cingulate Gyrus	brain
39	chr6:24126000-24127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:24126000-24127600	Active TSS	Brain Anterior Caudate	brain
41	chr6:24126000-24127800	Active TSS	Brain Inferior Temporal Lobe	brain

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