Variant report

Variant	rs2357023
Chromosome Location	chr6:119344529-119344530
allele	C/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	CEBPB	chr6:119344450-119344654	HepG2	liver:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558
2	CEBPB	chr6:119344428-119344623	Hela-S3	cervix:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558
3	CEBPB	chr6:119344422-119344651	IMR90	lung:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558
4	CEBPB	chr6:119344413-119344696	K562	blood:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558
5	CEBPB	chr6:119344413-119344632	H1-hESC	embryonic stem cell:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558
6	CEBPB	chr6:119344460-119344578	A549	lung:	n/a	chr6:119344548-119344559 chr6:119344547-119344560 chr6:119344547-119344558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119254455..119256179-chr6:119344238..119346814,2	K562	blood:
2	chr6:119344453..119347404-chr6:119349767..119351941,2	K562	blood:

Variant related genes	Relation type
FAM184A	TF binding region
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1775613	1.00[ASN][1000 genomes]
rs1775616	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1775620	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889561	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066408	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357021	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782573	0.96[ASN][1000 genomes]
rs2797356	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756939	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7738420	1.00[ASN][1000 genomes]
rs794249	1.00[ASN][1000 genomes]
rs794251	1.00[ASN][1000 genomes]
rs794257	0.96[ASN][1000 genomes]
rs9398496	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489577	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119293200-119345400	Weak transcription	Lung	lung
2	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:119325400-119349600	Weak transcription	Brain Angular Gyrus	brain
4	chr6:119328600-119348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:119330400-119347000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:119331400-119345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:119331400-119345800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:119331400-119349800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:119331400-119356000	Weak transcription	Ovary	ovary
10	chr6:119331600-119349200	Weak transcription	Adipose Nuclei	Adipose
11	chr6:119331600-119355800	Weak transcription	K562	blood
12	chr6:119334200-119355800	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:119334800-119347000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:119336400-119345400	Weak transcription	Pancreas	Pancrea
15	chr6:119337800-119345200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:119339400-119356200	Weak transcription	Placenta	Placenta
17	chr6:119340200-119347000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:119341400-119346200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:119341400-119356200	Weak transcription	Fetal Stomach	stomach
20	chr6:119342800-119344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:119343400-119345400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:119343400-119356400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:119343600-119355800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:119343800-119349800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:119344000-119345000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:119344000-119345200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:119344000-119345200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:119344000-119347000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:119344200-119344600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:119344200-119344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:119344200-119345000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:119344200-119345000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:119344200-119345800	Enhancers	Fetal Lung	lung
34	chr6:119344400-119344800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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