Variant report

Variant	rs891822
Chromosome Location	chr2:134349035-134349036
allele	A/C
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	USF1	chr2:134348717-134349106	ECC-1	luminal epithelium:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
2	USF1	chr2:134348727-134349095	H1-hESC	embryonic stem cell:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
3	USF1	chr2:134348677-134349084	ECC-1	luminal epithelium:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
4	MAX	chr2:134348773-134349074	H1-hESC	embryonic stem cell:	n/a	chr2:134348907-134348916 chr2:134348905-134348913 chr2:134348906-134348917 chr2:134349022-134349029 chr2:134349021-134349030
5	BHLHE40	chr2:134348631-134349043	HepG2	liver:	n/a	chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
6	CTCF	chr2:134348900-134349050	AG10803	skin:	n/a	n/a
7	USF1	chr2:134348636-134349154	H1-hESC	embryonic stem cell:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
8	USF1	chr2:134348809-134349098	SK-N-SH	brain:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
9	USF1	chr2:134348772-134349044	SK-N-SH_RA	brain:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
10	CTCF	chr2:134348900-134349050	AG04449	skin:	n/a	n/a
11	USF1	chr2:134348804-134349070	A549	lung:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
12	MAX	chr2:134348852-134349081	NB4	blood:	n/a	chr2:134348907-134348916 chr2:134348905-134348913 chr2:134348906-134348917 chr2:134349022-134349029 chr2:134349021-134349030
13	USF1	chr2:134348730-134349087	SK-N-SH_RA	brain:	n/a	chr2:134348905-134348916 chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
14	CTCF	chr2:134348960-134349110	HRE	kidney:	n/a	n/a

Variant related genes	Relation type
RN7SKP93	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10194577	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691839	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987374	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13021524	1.00[CHB][hapmap]
rs1432282	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653797	0.88[ASN][1000 genomes]
rs1653799	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653800	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653801	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1653802	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653803	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653804	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1669454	0.88[ASN][1000 genomes]
rs1669458	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669460	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953886	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4954069	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430434	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760534	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72849430	1.00[ASN][1000 genomes]
rs7607909	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134345400-134360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134345400-134360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:134345800-134357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:134346600-134349400	Enhancers	Fetal Muscle Leg	muscle
5	chr2:134347200-134349200	Enhancers	NHDF-Ad	bronchial
6	chr2:134347200-134349800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:134348200-134349200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:134348200-134349200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:134348200-134349200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:134348200-134349200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:134348200-134349400	Enhancers	Brain Germinal Matrix	brain
12	chr2:134348200-134349400	Enhancers	Fetal Brain Male	brain
13	chr2:134348200-134349400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:134348200-134350000	Enhancers	Fetal Heart	heart
15	chr2:134348200-134350200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:134348400-134349200	Enhancers	Fetal Brain Female	brain
17	chr2:134348400-134349200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:134348400-134349200	Enhancers	Stomach Mucosa	stomach
19	chr2:134348400-134349400	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr2:134348400-134349400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:134348400-134349400	Enhancers	Fetal Lung	lung
22	chr2:134348400-134349800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:134348400-134350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:134348600-134349200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:134348600-134349200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:134348600-134349200	Enhancers	Liver	Liver
27	chr2:134348600-134349200	Enhancers	Ovary	ovary
28	chr2:134348600-134349200	Enhancers	Psoas Muscle	Psoas
29	chr2:134348600-134349400	Enhancers	Fetal Stomach	stomach
30	chr2:134348800-134349200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:134348800-134349200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:134348800-134349200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:134348800-134349200	Active TSS	Brain Hippocampus Middle	brain
34	chr2:134348800-134349200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:134348800-134349400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:134348800-134349400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr2:134348800-134349400	Enhancers	Osteobl	bone
38	chr2:134349000-134349200	Enhancers	Aorta	Aorta
39	chr2:134349000-134349200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr2:134349000-134349200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr2:134349000-134349200	Flanking Active TSS	NHLF	lung
42	chr2:134349000-134349400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:134349000-134349400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:134349000-134354600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links