Variant report

Variant	rs633352
Chromosome Location	chr1:210467047-210467048
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: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
ENSG00000228110	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12030512	0.81[ASN][1000 genomes]
rs2884187	0.92[AFR][1000 genomes]
rs635084	0.89[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs636374	0.88[AFR][1000 genomes]
rs639095	0.89[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs640031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6672768	0.92[AFR][1000 genomes]
rs668322	0.82[ASN][1000 genomes]
rs7516171	0.91[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs633352	SYT14	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210464200-210467400	Enhancers	Fetal Lung	lung
2	chr1:210465400-210467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr1:210465600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:210465800-210470200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:210466000-210467200	Flanking Active TSS	NHDF-Ad	bronchial
6	chr1:210466200-210467200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:210466200-210467200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:210466200-210467200	Enhancers	Lung	lung
9	chr1:210466200-210467200	Enhancers	HSMMtube	muscle
10	chr1:210466200-210468200	Weak transcription	Gastric	stomach
11	chr1:210466400-210467200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210466400-210467800	Weak transcription	Right Ventricle	heart
13	chr1:210466400-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:210466400-210468000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:210466400-210468000	Weak transcription	Esophagus	oesophagus
16	chr1:210466400-210468800	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:210466400-210468800	Enhancers	Stomach Mucosa	stomach
18	chr1:210466400-210469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:210466600-210467200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr1:210466600-210467200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:210466600-210467200	Enhancers	Ovary	ovary
22	chr1:210466600-210467400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr1:210466600-210467800	Weak transcription	Pancreas	Pancrea
24	chr1:210466600-210468000	Weak transcription	Left Ventricle	heart
25	chr1:210466600-210468000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:210466600-210468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:210466600-210468400	Enhancers	Fetal Intestine Large	intestine
28	chr1:210466600-210469000	Enhancers	NHLF	lung
29	chr1:210466600-210469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:210466600-210469600	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:210466600-210470000	Enhancers	Fetal Stomach	stomach
32	chr1:210466600-210474200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:210466800-210467200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:210466800-210467200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:210466800-210467200	Enhancers	Osteobl	bone
36	chr1:210466800-210467400	Weak transcription	Aorta	Aorta
37	chr1:210466800-210467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:210466800-210467800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:210466800-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:210466800-210468000	Weak transcription	Colonic Mucosa	Colon
41	chr1:210466800-210468000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:210466800-210468400	Weak transcription	NHEK	skin
43	chr1:210466800-210469200	Enhancers	Colon Smooth Muscle	Colon
44	chr1:210466800-210469400	Enhancers	Adipose Nuclei	Adipose
45	chr1:210466800-210469400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:210466800-210477400	Enhancers	Fetal Muscle Leg	muscle
47	chr1:210467000-210467200	Flanking Active TSS	Fetal Heart	heart
48	chr1:210467000-210467200	Enhancers	Fetal Kidney	kidney
49	chr1:210467000-210467200	Enhancers	NH-A	brain
50	chr1:210467000-210467400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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