Variant report

Variant	rs2107994
Chromosome Location	chr7:119909507-119909508
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:0)
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	chr7:119909506-119909556	SK-N-SH	brain:	n/a
2	chr7:119909506-119909556	HMEC	breast:	n/a
3	chr7:119909506-119909556	SAEC	small airway:	n/a
4	chr7:119909506-119909556	AG09319	gingival:	n/a
5	chr7:119909506-119909556	HRCEpiC	kidney:	n/a
6	chr7:119909506-119909556	CMK	blood:	n/a
7	chr7:119909506-119909556	HUVEC	blood vessel:	n/a
8	chr7:119909506-119909556	A549	lung:	n/a
9	chr7:119909506-119909556	MCF-7	breast:	n/a
10	chr7:119909506-119909556	GM19239	blood:	n/a
11	chr7:119909506-119909556	HCF	heart:	n/a
12	chr7:119909506-119909556	AG04450	lung:	fetal
13	chr7:119909506-119909556	HCM	heart:	n/a
14	chr7:119909506-119909556	GM12878	blood:	n/a
15	chr7:119909506-119909556	HPAEpiC	pulmonary alveolar:	n/a
16	chr7:119909506-119909556	AoSMC	blood vessel:	n/a
17	chr7:119909506-119909556	ovcar-3	ovarian:	n/a
18	chr7:119909506-119909556	Hepatocyte	liver:	n/a
19	chr7:119909506-119909556	LNCaP	prostate:	n/a
20	chr7:119909506-119909556	ECC-1	luminal epithelium:	n/a
21	chr7:119909506-119909556	HepG2	liver:	n/a
22	chr7:119909506-119909556	NHBE	bronchial:	n/a
23	chr7:119909506-119909556	HRPEpiC	eye:	n/a
24	chr7:119909506-119909556	SK-N-SH_RA	brain:	n/a
25	chr7:119909506-119909556	AG09309	skin:	n/a
26	chr7:119909506-119909556	SKMC	muscle:	n/a
27	chr7:119909506-119909556	HCT-116	colon:	n/a
28	chr7:119909506-119909556	GM06990	blood:	n/a
29	chr7:119909506-119909556	HRE	kidney:	n/a
30	chr7:119909506-119909556	NH-A	brain:	n/a
31	chr7:119909506-119909556	PANC-1	pancreas:	n/a
32	chr7:119909506-119909556	HNPCEpiC	eye:	n/a
33	chr7:119909506-119909556	GM12891	blood:	n/a
34	chr7:119909506-119909556	Hela-S3	cervix:	n/a
35	chr7:119909506-119909556	HEK293	kidney:	embryo
36	chr7:119909506-119909556	SK-N-MC	brain:	n/a
37	chr7:119909506-119909556	PrEC	prostate:	n/a
38	chr7:119909506-119909556	IMR90	lung:	fetal
39	chr7:119909506-119909556	HIPEpiC	eye:	n/a
40	chr7:119909506-119909556	MCF10A-Er-Src	breast:	n/a
41	chr7:119909506-119909556	HCPEpiC	choroid plexus:	n/a
42	chr7:119909506-119909556	BE2_C	brain:	n/a
43	chr7:119909506-119909556	PFSK-1	brain:	n/a
44	chr7:119909506-119909556	H1-hESC	embryonic stem cell:	embryo
45	chr7:119909506-119909556	RPTEC	kidney:	n/a
46	chr7:119909506-119909556	NHDF-neo	bronchial:	n/a
47	chr7:119909506-119909556	HAEpiC	amniotic membrane:	n/a
48	chr7:119909506-119909556	ProgFib	skin:	n/a
49	chr7:119909506-119909556	HEEpiC	esophagus:	n/a
50	chr7:119909506-119909556	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
KCND2	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10224017	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10224700	0.88[ASN][1000 genomes]
rs10224809	0.88[ASN][1000 genomes]
rs10237275	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10241520	0.84[EUR][1000 genomes]
rs10247464	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10250387	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10251877	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252729	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10278455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10279729	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1035014	0.84[CEU][hapmap];0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10488287	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10953908	0.80[ASN][1000 genomes]
rs12533932	0.84[CEU][hapmap];0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12666459	0.84[CEU][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12706276	0.84[CEU][hapmap];0.91[ASN][1000 genomes]
rs12706280	0.80[ASN][1000 genomes]
rs1304206	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17142585	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1860704	0.84[CEU][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1990429	0.84[CEU][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2190183	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191734	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2191736	0.80[ASN][1000 genomes]
rs2191737	0.80[ASN][1000 genomes]
rs2402525	0.84[CEU][hapmap];0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402526	0.84[CEU][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2402527	0.80[ASN][1000 genomes]
rs3735339	0.93[ASN][1000 genomes]
rs3814463	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4730954	0.95[ASN][1000 genomes]
rs4730955	0.91[ASN][1000 genomes]
rs4730956	0.83[CEU][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4730958	0.80[ASN][1000 genomes]
rs4730960	0.80[ASN][1000 genomes]
rs60578704	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6466739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466740	0.95[ASN][1000 genomes]
rs6466741	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6942715	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6943223	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6956643	0.88[ASN][1000 genomes]
rs6974349	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7782622	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7792688	0.88[ASN][1000 genomes]
rs7792980	0.84[CEU][hapmap];0.90[ASN][1000 genomes]
rs7795487	0.91[ASN][1000 genomes]
rs7801487	0.88[ASN][1000 genomes]
rs7805413	0.84[CEU][hapmap];0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8180795	0.84[AFR][1000 genomes];0.80[ASN][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	nsv608326	chr7:119828331-119995890	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119904200-119912000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:119908200-119910600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:119908200-119911400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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