Variant report

Variant	rs7949484
Chromosome Location	chr11:17599727-17599728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17599691-17599741	ECC-1	luminal epithelium:	n/a
2	chr11:17599715-17599765	H1-hESC	embryonic stem cell:	embryo
3	chr11:17599691-17599741	ovcar-3	ovarian:	n/a
4	chr11:17599691-17599741	HCT-116	colon:	n/a
5	chr11:17599691-17599741	LNCaP	prostate:	n/a
6	chr11:17599691-17599741	HRE	kidney:	n/a
7	chr11:17599691-17599741	HMEC	breast:	n/a
8	chr11:17599691-17599741	HRCEpiC	kidney:	n/a
9	chr11:17599691-17599741	SK-N-MC	brain:	n/a
10	chr11:17599715-17599765	CMK	blood:	n/a
11	chr11:17599691-17599741	HNPCEpiC	eye:	n/a
12	chr11:17599691-17599741	BE2_C	brain:	n/a
13	chr11:17599715-17599765	HCM	heart:	n/a
14	chr11:17599715-17599765	SAEC	small airway:	n/a
15	chr11:17599691-17599741	IMR90	lung:	fetal
16	chr11:17599691-17599741	NHDF-neo	bronchial:	n/a
17	chr11:17599715-17599765	NT2-D1	testis:	n/a
18	chr11:17599715-17599765	GM06990	blood:	n/a
19	chr11:17599691-17599741	NHBE	bronchial:	n/a
20	chr11:17599691-17599741	SK-N-SH	brain:	n/a
21	chr11:17599691-17599741	Hela-S3	cervix:	n/a
22	chr11:17599691-17599741	GM12891	blood:	n/a
23	chr11:17599691-17599741	MCF10A-Er-Src	breast:	n/a
24	chr11:17599691-17599741	U87	brain:	n/a
25	chr11:17599691-17599741	BJ	skin:	n/a
26	chr11:17599691-17599741	AG09309	skin:	n/a
27	chr11:17599691-17599741	PANC-1	pancreas:	n/a
28	chr11:17599715-17599765	HCF	heart:	n/a
29	chr11:17599715-17599765	HepG2	liver:	n/a
30	chr11:17599715-17599765	AoSMC	blood vessel:	n/a
31	chr11:17599715-17599765	AG10803	skin:	n/a
32	chr11:17599715-17599765	NH-A	brain:	n/a
33	chr11:17599715-17599765	SKMC	muscle:	n/a
34	chr11:17599715-17599765	PFSK-1	brain:	n/a
35	chr11:17599691-17599741	SKMC	muscle:	n/a
36	chr11:17599715-17599765	SK-N-SH_RA	brain:	n/a
37	chr11:17599691-17599741	H1-hESC	embryonic stem cell:	embryo
38	chr11:17599715-17599765	HRE	kidney:	n/a
39	chr11:17599715-17599765	HL-60	blood:	n/a
40	chr11:17599691-17599741	HEEpiC	esophagus:	n/a
41	chr11:17599715-17599765	T-47D	breast:	n/a
42	chr11:17599691-17599741	RPTEC	kidney:	n/a
43	chr11:17599691-17599741	AG09319	gingival:	n/a
44	chr11:17599715-17599765	ProgFib	skin:	n/a
45	chr11:17599715-17599765	HUVEC	blood vessel:	n/a
46	chr11:17599715-17599765	HMEC	breast:	n/a
47	chr11:17599715-17599765	Hepatocyte	liver:	n/a
48	chr11:17599691-17599741	GM06990	blood:	n/a
49	chr11:17599715-17599765	K562	blood:	n/a
50	chr11:17599715-17599765	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
OTOG	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10488684	0.85[CHB][hapmap];0.92[CHD][hapmap]
rs10766411	0.81[ASN][1000 genomes]
rs10766412	0.80[ASN][1000 genomes]
rs10832809	1.00[JPT][hapmap]
rs10832811	1.00[JPT][hapmap]
rs10832812	1.00[JPT][hapmap]
rs10832814	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs11024329	1.00[JPT][hapmap]
rs11024353	0.90[EUR][1000 genomes]
rs11603536	1.00[EUR][1000 genomes]
rs11604368	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11604413	1.00[EUR][1000 genomes]
rs11606130	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11607051	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11607120	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11608226	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11822887	1.00[CHB][hapmap]
rs16934404	0.82[ASN][1000 genomes]
rs16934433	0.85[CHB][hapmap]
rs16934477	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs16934481	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16934491	1.00[EUR][1000 genomes]
rs2108334	0.84[JPT][hapmap]
rs55858137	0.90[EUR][1000 genomes]
rs56136656	0.81[ASN][1000 genomes]
rs56254591	0.90[EUR][1000 genomes]
rs61743165	0.90[EUR][1000 genomes]
rs7102480	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7106021	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7107242	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs7112749	1.00[EUR][1000 genomes]
rs7117519	1.00[EUR][1000 genomes]
rs7117645	1.00[EUR][1000 genomes]
rs7118411	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7118838	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7127953	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs740324	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7924620	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs7949599	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7949897	1.00[EUR][1000 genomes]
rs7950303	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs875695	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs875696	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][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	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv7693	chr11:17556788-17601771	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17596600-17599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17597800-17601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:17597800-17601800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:17597800-17601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:17599600-17599800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17599600-17599800	Bivalent Enhancer	Adipose Nuclei	Adipose

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