Variant report

Variant	rs241734
Chromosome Location	chr22:33387770-33387771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33262063-33266567..22:33387274-33389304	Hela-S3	cervix:
2	22:33190123-33206921..22:33387274-33389304	K562	blood:
3	chr22:33234675..33236559-chr22:33386766..33389702,2	MCF-7	breast:
4	22:32915608-32918105..22:33387274-33389304	Hela-S3	cervix:
5	chr22:33387629..33389228-chr22:33390616..33392277,2	MCF-7	breast:
6	22:32920308-32927723..22:33387274-33389304	GM12878	blood:
7	22:32292186-32294405..22:33387274-33389304	H1-hESC	embryonic stem cell:	embryo
8	chr22:32953476..32955313-chr22:33386252..33387840,2	MCF-7	breast:
9	22:32872511-32874561..22:33387274-33389304	Hela-S3	cervix:
10	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
11	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:
12	22:32477762-32487457..22:33387274-33389304	Hela-S3	cervix:
13	chr22:33382445..33385028-chr22:33386160..33388841,3	MCF-7	breast:
14	22:32740683-32750950..22:33387274-33389304	Hela-S3	cervix:
15	22:32342898-32343477..22:33387274-33389304	Hela-S3	cervix:
16	22:32764253-32784733..22:33387274-33389304	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000128276	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs133940	0.89[CHB][hapmap]
rs133953	0.89[CHB][hapmap]
rs133955	0.89[CHB][hapmap]
rs171356	0.81[AFR][1000 genomes]
rs241710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241713	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241720	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241723	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs241735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470009	0.89[CHB][hapmap]
rs470012	0.89[CHB][hapmap]

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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:33381800-33389200	Enhancers	HMEC	breast
3	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
4	chr22:33382400-33392400	Weak transcription	Lung	lung
5	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:33382600-33387800	Weak transcription	Brain Substantia Nigra	brain
7	chr22:33382600-33387800	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:33382600-33390400	Weak transcription	Right Ventricle	heart
9	chr22:33383600-33387800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:33383600-33387800	Weak transcription	Fetal Intestine Small	intestine
11	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:33383800-33388200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:33383800-33389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:33383800-33389200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:33383800-33390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:33383800-33390400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:33384400-33390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr22:33385200-33390600	Weak transcription	Spleen	Spleen
23	chr22:33385400-33390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:33386200-33387800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33386200-33389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:33386200-33397000	Enhancers	Placenta	Placenta
27	chr22:33386600-33389400	Enhancers	Fetal Muscle Trunk	muscle
28	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
29	chr22:33387400-33387800	Enhancers	Fetal Brain Female	brain
30	chr22:33387400-33388200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:33387400-33388400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33387400-33388400	Enhancers	Adipose Nuclei	Adipose
33	chr22:33387400-33388400	Enhancers	Brain Germinal Matrix	brain
34	chr22:33387400-33388400	Enhancers	Esophagus	oesophagus
35	chr22:33387400-33388400	Enhancers	Fetal Stomach	stomach
36	chr22:33387400-33388600	Enhancers	Fetal Brain Male	brain
37	chr22:33387400-33388600	Enhancers	Hela-S3	cervix
38	chr22:33387400-33389000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr22:33387400-33389200	Enhancers	NHEK	skin
40	chr22:33387400-33391200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:33387400-33391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:33387400-33391600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:33387400-33391600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:33387600-33388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:33387600-33388000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:33387600-33388000	Enhancers	Brain Hippocampus Middle	brain
47	chr22:33387600-33388000	Enhancers	Fetal Heart	heart
48	chr22:33387600-33388000	Enhancers	HSMM	muscle
49	chr22:33387600-33388000	Enhancers	NHDF-Ad	bronchial
50	chr22:33387600-33388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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