Variant report

Variant	rs635084
Chromosome Location	chr1:210466625-210466626
allele	A/G
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210405884..210407720-chr1:210465372..210467174,2	MCF-7	breast:
2	chr1:210418192..210421005-chr1:210465903..210469381,6	MCF-7	breast:
3	chr1:210462820..210467272-chr1:210545539..210548914,4	K562	blood:
4	chr1:210466322..210468395-chr1:210546602..210548755,2	MCF-7	breast:
5	chr1:210456418..210459693-chr1:210464885..210466635,3	MCF-7	breast:
6	chr1:210465950..210468476-chr1:210473987..210476235,2	MCF-7	breast:
7	chr1:210466185..210468740-chr1:210546709..210548670,2	MCF-7	breast:
8	chr1:210439102..210441660-chr1:210465161..210467933,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HHAT-2	chr1:210465691-210467192	NONHSAT009261

No data

Variant related genes	Relation type
ENSG00000228110	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2057044	0.91[EUR][1000 genomes]
rs2884187	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs633352	0.89[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs636374	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs640031	0.94[AFR][1000 genomes]
rs6672768	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7416272	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516171	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210464200-210467400	Enhancers	Fetal Lung	lung
2	chr1:210465200-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:210465400-210466800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:210465400-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:210465400-210467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:210465600-210466800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:210465600-210466800	Active TSS	Aorta	Aorta
8	chr1:210465600-210466800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:210465600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:210465800-210466800	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr1:210465800-210467000	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr1:210465800-210470200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:210466000-210466800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:210466000-210466800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:210466000-210467000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:210466000-210467200	Flanking Active TSS	NHDF-Ad	bronchial
17	chr1:210466200-210466800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:210466200-210466800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr1:210466200-210467000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:210466200-210467000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:210466200-210467000	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr1:210466200-210467000	Bivalent Enhancer	Placenta	Placenta
23	chr1:210466200-210467200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:210466200-210467200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:210466200-210467200	Enhancers	Lung	lung
26	chr1:210466200-210467200	Enhancers	HSMMtube	muscle
27	chr1:210466200-210468200	Weak transcription	Gastric	stomach
28	chr1:210466400-210466800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr1:210466400-210466800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:210466400-210466800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:210466400-210466800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:210466400-210466800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr1:210466400-210466800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:210466400-210466800	Weak transcription	Right Atrium	heart
35	chr1:210466400-210466800	Enhancers	NH-A	brain
36	chr1:210466400-210466800	Enhancers	NHEK	skin
37	chr1:210466400-210466800	Flanking Active TSS	Osteobl	bone
38	chr1:210466400-210467000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:210466400-210467000	Enhancers	Brain Angular Gyrus	brain
40	chr1:210466400-210467000	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr1:210466400-210467000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr1:210466400-210467000	Enhancers	HSMM	muscle
43	chr1:210466400-210467200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:210466400-210467800	Weak transcription	Right Ventricle	heart
45	chr1:210466400-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:210466400-210468000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:210466400-210468000	Weak transcription	Esophagus	oesophagus
48	chr1:210466400-210468800	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:210466400-210468800	Enhancers	Stomach Mucosa	stomach
50	chr1:210466400-210469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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