Variant report

Variant	rs6696038
Chromosome Location	chr1:225619171-225619172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:225618793-225619172	K562	blood:	n/a	n/a
2	KAP1	chr1:225618815-225619206	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225619133-225619183	GM12891	blood:	n/a
2	chr1:225619133-225619183	Jurkat	blood:	n/a
3	chr1:225619133-225619183	ECC-1	luminal epithelium:	n/a
4	chr1:225619133-225619183	LNCaP	prostate:	n/a
5	chr1:225619133-225619183	NHDF-neo	bronchial:	n/a
6	chr1:225619133-225619183	HAEpiC	amniotic membrane:	n/a
7	chr1:225619133-225619183	CMK	blood:	n/a
8	chr1:225619133-225619183	NT2-D1	testis:	n/a
9	chr1:225619133-225619183	HCT-116	colon:	n/a
10	chr1:225619133-225619183	HCF	heart:	n/a
11	chr1:225619133-225619183	AG10803	skin:	n/a
12	chr1:225619133-225619183	SAEC	small airway:	n/a
13	chr1:225619133-225619183	HEK293	kidney:	embryo
14	chr1:225619133-225619183	AG09309	skin:	n/a
15	chr1:225619133-225619183	PFSK-1	brain:	n/a
16	chr1:225619133-225619183	HEEpiC	esophagus:	n/a
17	chr1:225619133-225619183	GM12878	blood:	n/a
18	chr1:225619133-225619183	Hepatocyte	liver:	n/a
19	chr1:225619133-225619183	HepG2	liver:	n/a
20	chr1:225619133-225619183	SK-N-SH	brain:	n/a
21	chr1:225619133-225619183	Caco-2	colon:	n/a
22	chr1:225619133-225619183	SKMC	muscle:	n/a
23	chr1:225619133-225619183	SK-N-SH_RA	brain:	n/a
24	chr1:225619133-225619183	HRCEpiC	kidney:	n/a
25	chr1:225619133-225619183	IMR90	lung:	fetal
26	chr1:225619133-225619183	U87	brain:	n/a
27	chr1:225619133-225619183	NH-A	brain:	n/a
28	chr1:225619133-225619183	NHBE	bronchial:	n/a
29	chr1:225619133-225619183	T-47D	breast:	n/a
30	chr1:225619133-225619183	AoSMC	blood vessel:	n/a
31	chr1:225619133-225619183	PANC-1	pancreas:	n/a
32	chr1:225619133-225619183	Hela-S3	cervix:	n/a
33	chr1:225619133-225619183	ProgFib	skin:	n/a
34	chr1:225619133-225619183	HL-60	blood:	n/a
35	chr1:225619133-225619183	BE2_C	brain:	n/a
36	chr1:225619133-225619183	HIPEpiC	eye:	n/a
37	chr1:225619133-225619183	NB4	blood:	n/a
38	chr1:225619133-225619183	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:225619133-225619183	GM19239	blood:	n/a
40	chr1:225619133-225619183	HRE	kidney:	n/a
41	chr1:225619133-225619183	BJ	skin:	n/a
42	chr1:225619133-225619183	GM06990	blood:	n/a
43	chr1:225619133-225619183	ovcar-3	ovarian:	n/a
44	chr1:225619133-225619183	MCF-7	breast:	n/a
45	chr1:225619133-225619183	PrEC	prostate:	n/a
46	chr1:225619133-225619183	GM12892	blood:	n/a
47	chr1:225619133-225619183	HMEC	breast:	n/a
48	chr1:225619133-225619183	AG04449	skin:	fetal
49	chr1:225619133-225619183	A549	lung:	n/a
50	chr1:225619133-225619183	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225617914..225620224-chr1:225632867..225635155,3	MCF-7	breast:

No data

Variant related genes	Relation type
LBR	TF binding region
LBR	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10799312	0.91[CHB][hapmap]
rs10915828	0.83[CHB][hapmap]
rs11588279	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs12034829	0.83[CHB][hapmap]
rs1340865	0.91[CHB][hapmap]
rs1340867	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1891000	0.83[CHB][hapmap]
rs2066233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185529	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766930	0.92[CHB][hapmap]
rs3893032	0.83[CHB][hapmap]
rs4653637	0.81[EUR][1000 genomes]
rs499782	0.91[CHB][hapmap]
rs6426075	0.91[CHB][hapmap]
rs6684787	0.89[ASN][1000 genomes]
rs6687980	0.90[ASN][1000 genomes]
rs6697783	0.85[CHB][hapmap]
rs7541888	0.90[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6696038	ENAH	cis	normal skin	skin_eQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225616600-225622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:225617200-225621200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:225617200-225621200	Weak transcription	Thymus	Thymus
4	chr1:225617400-225626600	Weak transcription	Dnd41	blood
5	chr1:225618200-225619400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr1:225618200-225621400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:225618400-225621200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:225618400-225621200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:225618400-225624600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:225618800-225619400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:225618800-225619400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:225619000-225619200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:225619000-225619400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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