Variant report

Variant	rs6839680
Chromosome Location	chr4:110765496-110765497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:110765401-110765540	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110765488-110765538	AG04449	skin:	fetal
2	chr4:110765488-110765538	MCF10A-Er-Src	breast:	n/a
3	chr4:110765488-110765538	HNPCEpiC	eye:	n/a
4	chr4:110765488-110765538	PFSK-1	brain:	n/a
5	chr4:110765488-110765538	GM19239	blood:	n/a
6	chr4:110765488-110765538	GM12892	blood:	n/a
7	chr4:110765488-110765538	HEEpiC	esophagus:	n/a
8	chr4:110765488-110765538	HL-60	blood:	n/a
9	chr4:110765488-110765538	HIPEpiC	eye:	n/a
10	chr4:110765488-110765538	SKMC	muscle:	n/a
11	chr4:110765488-110765538	Jurkat	blood:	n/a
12	chr4:110765488-110765538	PrEC	prostate:	n/a
13	chr4:110765488-110765538	U87	brain:	n/a
14	chr4:110765488-110765538	Hepatocyte	liver:	n/a
15	chr4:110765488-110765538	NT2-D1	testis:	n/a
16	chr4:110765488-110765538	K562	blood:	n/a
17	chr4:110765488-110765538	HCPEpiC	choroid plexus:	n/a
18	chr4:110765488-110765538	GM06990	blood:	n/a
19	chr4:110765488-110765538	AoSMC	blood vessel:	n/a
20	chr4:110765488-110765538	PANC-1	pancreas:	n/a
21	chr4:110765488-110765538	AG10803	skin:	n/a
22	chr4:110765488-110765538	LNCaP	prostate:	n/a
23	chr4:110765488-110765538	HRE	kidney:	n/a
24	chr4:110765488-110765538	MCF-7	breast:	n/a
25	chr4:110765488-110765538	BJ	skin:	n/a
26	chr4:110765488-110765538	NH-A	brain:	n/a
27	chr4:110765488-110765538	HUVEC	blood vessel:	n/a
28	chr4:110765488-110765538	AG04450	lung:	fetal
29	chr4:110765488-110765538	HCF	heart:	n/a
30	chr4:110765488-110765538	HCM	heart:	n/a
31	chr4:110765488-110765538	A549	lung:	n/a
32	chr4:110765488-110765538	RPTEC	kidney:	n/a
33	chr4:110765488-110765538	HRCEpiC	kidney:	n/a
34	chr4:110765488-110765538	HepG2	liver:	n/a
35	chr4:110765488-110765538	AG09319	gingival:	n/a
36	chr4:110765488-110765538	BE2_C	brain:	n/a
37	chr4:110765488-110765538	HEK293	kidney:	embryo
38	chr4:110765488-110765538	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:110765488-110765538	NB4	blood:	n/a
40	chr4:110765488-110765538	IMR90	lung:	fetal
41	chr4:110765488-110765538	SK-N-SH_RA	brain:	n/a
42	chr4:110765488-110765538	CMK	blood:	n/a
43	chr4:110765488-110765538	GM12878	blood:	n/a
44	chr4:110765488-110765538	SK-N-SH	brain:	n/a
45	chr4:110765488-110765538	ECC-1	luminal epithelium:	n/a
46	chr4:110765488-110765538	Hela-S3	cervix:	n/a
47	chr4:110765488-110765538	ovcar-3	ovarian:	n/a
48	chr4:110765488-110765538	HMEC	breast:	n/a
49	chr4:110765488-110765538	SK-N-MC	brain:	n/a
50	chr4:110765488-110765538	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110764137..110765639-chr4:110769412..110771941,2	K562	blood:
2	chr4:110765021..110767262-chr4:110772866..110774722,2	K562	blood:

No data

Variant related genes	Relation type
LRIT3	TF binding region
LRIT3	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000954	1.00[YRI][hapmap]
rs10857002	0.85[CEU][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12498247	1.00[YRI][hapmap]
rs17610314	1.00[YRI][hapmap]
rs2078038	0.81[AFR][1000 genomes]
rs2078039	0.81[AFR][1000 genomes]
rs4698752	0.81[AFR][1000 genomes]
rs4698798	1.00[YRI][hapmap]
rs62324954	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852679	0.91[CEU][hapmap]
rs7676676	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs881878	1.00[YRI][hapmap]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6839680	CAMKK2	trans	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
3	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
4	chr4:110746800-110767600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:110757800-110772800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:110760600-110766800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:110763400-110771800	Weak transcription	Pancreas	Pancrea

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