Variant report

Variant	rs4647848
Chromosome Location	chr1:86933793-86933794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:86933750-86933800	GM12891	blood:	n/a
2	chr1:86933750-86933800	AG04450	lung:	fetal
3	chr1:86933750-86933800	HAEpiC	amniotic membrane:	n/a
4	chr1:86933750-86933800	AoSMC	blood vessel:	n/a
5	chr1:86933750-86933800	NHBE	bronchial:	n/a
6	chr1:86933750-86933800	HRPEpiC	eye:	n/a
7	chr1:86933750-86933800	SK-N-MC	brain:	n/a
8	chr1:86933750-86933800	ProgFib	skin:	n/a
9	chr1:86933750-86933800	LNCaP	prostate:	n/a
10	chr1:86933750-86933800	HCT-116	colon:	n/a
11	chr1:86933750-86933800	Jurkat	blood:	n/a
12	chr1:86933750-86933800	K562	blood:	n/a
13	chr1:86933750-86933800	HCPEpiC	choroid plexus:	n/a
14	chr1:86933750-86933800	SKMC	muscle:	n/a
15	chr1:86933750-86933800	HUVEC	blood vessel:	n/a
16	chr1:86933750-86933800	GM06990	blood:	n/a
17	chr1:86933750-86933800	MCF10A-Er-Src	breast:	n/a
18	chr1:86933750-86933800	NB4	blood:	n/a
19	chr1:86933750-86933800	MCF-7	breast:	n/a
20	chr1:86933750-86933800	HL-60	blood:	n/a
21	chr1:86933750-86933800	AG04449	skin:	fetal
22	chr1:86933750-86933800	HRE	kidney:	n/a
23	chr1:86933750-86933800	Caco-2	colon:	n/a
24	chr1:86933750-86933800	RPTEC	kidney:	n/a
25	chr1:86933750-86933800	HepG2	liver:	n/a
26	chr1:86933750-86933800	PANC-1	pancreas:	n/a
27	chr1:86933750-86933800	HMEC	breast:	n/a
28	chr1:86933750-86933800	CMK	blood:	n/a
29	chr1:86933750-86933800	T-47D	breast:	n/a
30	chr1:86933750-86933800	HNPCEpiC	eye:	n/a
31	chr1:86933750-86933800	ECC-1	luminal epithelium:	n/a
32	chr1:86933750-86933800	NT2-D1	testis:	n/a
33	chr1:86933750-86933800	IMR90	lung:	fetal
34	chr1:86933750-86933800	Hepatocyte	liver:	n/a
35	chr1:86933750-86933800	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:86933750-86933800	AG09309	skin:	n/a
37	chr1:86933750-86933800	PrEC	prostate:	n/a
38	chr1:86933750-86933800	HEK293	kidney:	embryo
39	chr1:86933750-86933800	H1-hESC	embryonic stem cell:	embryo
40	chr1:86933750-86933800	AG10803	skin:	n/a
41	chr1:86933750-86933800	GM12878	blood:	n/a
42	chr1:86933750-86933800	A549	lung:	n/a
43	chr1:86933750-86933800	GM19239	blood:	n/a
44	chr1:86933750-86933800	BJ	skin:	n/a
45	chr1:86933750-86933800	HIPEpiC	eye:	n/a
46	chr1:86933750-86933800	SAEC	small airway:	n/a
47	chr1:86933750-86933800	GM12892	blood:	n/a
48	chr1:86933750-86933800	HCF	heart:	n/a
49	chr1:86933750-86933800	SK-N-SH_RA	brain:	n/a
50	chr1:86933750-86933800	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86921099..86922741-chr1:86931533..86933819,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLCA1	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10493793	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805577	1.00[EUR][1000 genomes]
rs17129186	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522658	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4647844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55719851	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321760	1.00[EUR][1000 genomes]
rs56398778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744302	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744314	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744320	1.00[EUR][1000 genomes]
rs5744324	1.00[EUR][1000 genomes]
rs5744335	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86927000-86934200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:86927000-86934600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:86930600-86934000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:86932600-86935400	Enhancers	Dnd41	blood
5	chr1:86932800-86934000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:86933000-86936000	Weak transcription	NHDF-Ad	bronchial
7	chr1:86933000-86937800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:86933000-86938000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:86933000-86942800	Weak transcription	K562	blood
10	chr1:86933200-86936800	Weak transcription	Osteobl	bone

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