Variant report

Variant	rs7516171
Chromosome Location	chr1:210466932-210466933
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 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	chr1:210465950..210468476-chr1:210473987..210476235,2	MCF-7	breast:
6	chr1:210466185..210468740-chr1:210546709..210548670,2	MCF-7	breast:
7	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
ENSG00000200972	Chromatin interaction
ENSG00000228110	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	0.90[EUR][1000 genomes]
rs2884187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633352	0.91[AFR][1000 genomes]
rs635084	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs636374	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs639095	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640031	0.91[AFR][1000 genomes]
rs6672768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7416272	0.92[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:71 , 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	chr1:210465400-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:210465400-210467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:210465600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:210465800-210467000	Flanking Active TSS	Fetal Muscle Trunk	muscle
7	chr1:210465800-210470200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:210466000-210467000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:210466000-210467200	Flanking Active TSS	NHDF-Ad	bronchial
10	chr1:210466200-210467000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:210466200-210467000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:210466200-210467000	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr1:210466200-210467000	Bivalent Enhancer	Placenta	Placenta
14	chr1:210466200-210467200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:210466200-210467200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:210466200-210467200	Enhancers	Lung	lung
17	chr1:210466200-210467200	Enhancers	HSMMtube	muscle
18	chr1:210466200-210468200	Weak transcription	Gastric	stomach
19	chr1:210466400-210467000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:210466400-210467000	Enhancers	Brain Angular Gyrus	brain
21	chr1:210466400-210467000	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr1:210466400-210467000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr1:210466400-210467000	Enhancers	HSMM	muscle
24	chr1:210466400-210467200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:210466400-210467800	Weak transcription	Right Ventricle	heart
26	chr1:210466400-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:210466400-210468000	Weak transcription	Brain Substantia Nigra	brain
28	chr1:210466400-210468000	Weak transcription	Esophagus	oesophagus
29	chr1:210466400-210468800	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:210466400-210468800	Enhancers	Stomach Mucosa	stomach
31	chr1:210466400-210469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:210466600-210467000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr1:210466600-210467000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:210466600-210467000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr1:210466600-210467000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:210466600-210467000	Enhancers	Brain Hippocampus Middle	brain
37	chr1:210466600-210467000	Enhancers	Fetal Heart	heart
38	chr1:210466600-210467000	Weak transcription	Fetal Kidney	kidney
39	chr1:210466600-210467000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:210466600-210467000	Enhancers	HMEC	breast
41	chr1:210466600-210467200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr1:210466600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:210466600-210467200	Enhancers	Ovary	ovary
44	chr1:210466600-210467400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr1:210466600-210467800	Weak transcription	Pancreas	Pancrea
46	chr1:210466600-210468000	Weak transcription	Left Ventricle	heart
47	chr1:210466600-210468000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:210466600-210468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:210466600-210468400	Enhancers	Fetal Intestine Large	intestine
50	chr1:210466600-210469000	Enhancers	NHLF	lung

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