Variant report

Variant	rs17177095
Chromosome Location	chr12:4555730-4555731
allele	A/G
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	chr12:4555720-4555770	HEEpiC	esophagus:	n/a
2	chr12:4555720-4555770	GM12878	blood:	n/a
3	chr12:4555720-4555770	HUVEC	blood vessel:	n/a
4	chr12:4555720-4555770	HNPCEpiC	eye:	n/a
5	chr12:4555720-4555770	U87	brain:	n/a
6	chr12:4555720-4555770	AG09309	skin:	n/a
7	chr12:4555720-4555770	H1-hESC	embryonic stem cell:	embryo
8	chr12:4555720-4555770	NHBE	bronchial:	n/a
9	chr12:4555720-4555770	HCPEpiC	choroid plexus:	n/a
10	chr12:4555720-4555770	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:4555720-4555770	NH-A	brain:	n/a
12	chr12:4555720-4555770	SK-N-SH_RA	brain:	n/a
13	chr12:4555720-4555770	ovcar-3	ovarian:	n/a
14	chr12:4555720-4555770	NHDF-neo	bronchial:	n/a
15	chr12:4555720-4555770	BE2_C	brain:	n/a
16	chr12:4555720-4555770	AG09319	gingival:	n/a
17	chr12:4555720-4555770	Jurkat	blood:	n/a
18	chr12:4555720-4555770	Hela-S3	cervix:	n/a
19	chr12:4555720-4555770	RPTEC	kidney:	n/a
20	chr12:4555720-4555770	HRCEpiC	kidney:	n/a
21	chr12:4555720-4555770	AG10803	skin:	n/a
22	chr12:4555720-4555770	HMEC	breast:	n/a
23	chr12:4555720-4555770	AG04450	lung:	fetal
24	chr12:4555720-4555770	HRPEpiC	eye:	n/a
25	chr12:4555720-4555770	SAEC	small airway:	n/a
26	chr12:4555720-4555770	GM06990	blood:	n/a
27	chr12:4555720-4555770	HCT-116	colon:	n/a
28	chr12:4555720-4555770	HepG2	liver:	n/a
29	chr12:4555720-4555770	NB4	blood:	n/a
30	chr12:4555720-4555770	PrEC	prostate:	n/a
31	chr12:4555720-4555770	PANC-1	pancreas:	n/a
32	chr12:4555720-4555770	HAEpiC	amniotic membrane:	n/a
33	chr12:4555720-4555770	ProgFib	skin:	n/a
34	chr12:4555720-4555770	K562	blood:	n/a
35	chr12:4555720-4555770	AoSMC	blood vessel:	n/a
36	chr12:4555720-4555770	GM12892	blood:	n/a
37	chr12:4555720-4555770	Caco-2	colon:	n/a
38	chr12:4555720-4555770	SK-N-MC	brain:	n/a
39	chr12:4555720-4555770	MCF-7	breast:	n/a
40	chr12:4555720-4555770	MCF10A-Er-Src	breast:	n/a
41	chr12:4555720-4555770	GM19239	blood:	n/a
42	chr12:4555720-4555770	HL-60	blood:	n/a
43	chr12:4555720-4555770	LNCaP	prostate:	n/a
44	chr12:4555720-4555770	CMK	blood:	n/a
45	chr12:4555720-4555770	NT2-D1	testis:	n/a
46	chr12:4555720-4555770	ECC-1	luminal epithelium:	n/a
47	chr12:4555720-4555770	AG04449	skin:	fetal
48	chr12:4555720-4555770	HCF	heart:	n/a
49	chr12:4555720-4555770	Hepatocyte	liver:	n/a
50	chr12:4555720-4555770	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4550824..4553664-chr12:4554520..4557456,3	K562	blood:

No data

Variant related genes	Relation type
FGF6	CpG island
ENSG00000111241	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17177102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56203448	1.00[AMR][1000 genomes]
rs57042528	1.00[AMR][1000 genomes]
rs59947976	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4549600-4558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
3	chr12:4551600-4556400	Weak transcription	Fetal Brain Male	brain
4	chr12:4551800-4556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:4551800-4559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4552000-4558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:4553400-4559000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:4553600-4559000	Weak transcription	Fetal Thymus	thymus
9	chr12:4553800-4558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:4553800-4559000	Weak transcription	Dnd41	blood
11	chr12:4554000-4555800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:4554400-4558200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:4554800-4556200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:4555000-4561200	Enhancers	Fetal Muscle Leg	muscle
15	chr12:4555200-4559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:4555400-4558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:4555400-4558600	Weak transcription	Psoas Muscle	Psoas
18	chr12:4555600-4558400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:4555600-4559000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:4555600-4559600	Enhancers	Skeletal Muscle Female	skeletal muscle

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