Variant report

Variant	rs11978424
Chromosome Location	chr7:109600625-109600626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:109600600-109600800	HepG2	liver:	n/a	chr7:109600634-109600652
2	MAFK	chr7:109600593-109600673	HepG2	liver:	n/a	n/a
3	MAFK	chr7:109600564-109600814	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:109600591-109600641	HMEC	breast:	n/a
2	chr7:109600591-109600641	HEK293	kidney:	embryo
3	chr7:109600591-109600641	HUVEC	blood vessel:	n/a
4	chr7:109600591-109600641	IMR90	lung:	fetal
5	chr7:109600591-109600641	H1-hESC	embryonic stem cell:	embryo
6	chr7:109600591-109600641	GM19239	blood:	n/a
7	chr7:109600591-109600641	HRE	kidney:	n/a
8	chr7:109600591-109600641	SKMC	muscle:	n/a
9	chr7:109600591-109600641	HEEpiC	esophagus:	n/a
10	chr7:109600591-109600641	HIPEpiC	eye:	n/a
11	chr7:109600591-109600641	RPTEC	kidney:	n/a
12	chr7:109600591-109600641	HNPCEpiC	eye:	n/a
13	chr7:109600591-109600641	SK-N-MC	brain:	n/a
14	chr7:109600591-109600641	HCF	heart:	n/a
15	chr7:109600591-109600641	AG10803	skin:	n/a
16	chr7:109600591-109600641	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:109600591-109600641	BE2_C	brain:	n/a
18	chr7:109600591-109600641	MCF-7	breast:	n/a
19	chr7:109600591-109600641	U87	brain:	n/a
20	chr7:109600591-109600641	HL-60	blood:	n/a
21	chr7:109600591-109600641	HRCEpiC	kidney:	n/a
22	chr7:109600591-109600641	Hela-S3	cervix:	n/a
23	chr7:109600591-109600641	PFSK-1	brain:	n/a
24	chr7:109600591-109600641	NH-A	brain:	n/a
25	chr7:109600591-109600641	GM12891	blood:	n/a
26	chr7:109600591-109600641	CMK	blood:	n/a
27	chr7:109600591-109600641	HAEpiC	amniotic membrane:	n/a
28	chr7:109600591-109600641	AG09309	skin:	n/a
29	chr7:109600591-109600641	HRPEpiC	eye:	n/a
30	chr7:109600591-109600641	HCPEpiC	choroid plexus:	n/a
31	chr7:109600591-109600641	HCT-116	colon:	n/a
32	chr7:109600591-109600641	ProgFib	skin:	n/a
33	chr7:109600591-109600641	GM06990	blood:	n/a
34	chr7:109600591-109600641	BJ	skin:	n/a
35	chr7:109600591-109600641	AG04450	lung:	fetal
36	chr7:109600591-109600641	Caco-2	colon:	n/a
37	chr7:109600591-109600641	LNCaP	prostate:	n/a
38	chr7:109600591-109600641	ovcar-3	ovarian:	n/a
39	chr7:109600591-109600641	Jurkat	blood:	n/a
40	chr7:109600591-109600641	SK-N-SH	brain:	n/a
41	chr7:109600591-109600641	T-47D	breast:	n/a
42	chr7:109600591-109600641	GM12878	blood:	n/a
43	chr7:109600591-109600641	AG04449	skin:	fetal
44	chr7:109600591-109600641	SK-N-SH_RA	brain:	n/a
45	chr7:109600591-109600641	NT2-D1	testis:	n/a
46	chr7:109600591-109600641	MCF10A-Er-Src	breast:	n/a
47	chr7:109600591-109600641	AG09319	gingival:	n/a
48	chr7:109600591-109600641	A549	lung:	n/a
49	chr7:109600591-109600641	HepG2	liver:	n/a
50	chr7:109600591-109600641	HCM	heart:	n/a

No data

Variant related genes	Relation type
EIF3IP1	TF binding region
EIF3IP1	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11984226	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12113923	0.99[ASN][1000 genomes]
rs17157296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17157360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2254967	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285758	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973544	0.97[ASN][1000 genomes]
rs73431696	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433539	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73433567	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608079	chr7:109098364-109862289	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv532177	chr7:109319033-110123840	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758614	chr7:109409980-109607619	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759552	chr7:109409980-109607619	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531405	chr7:109419044-109958007	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023428	chr7:109451842-110185072	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1849010	chr7:109459967-109644867	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1026799	chr7:109470266-109799102	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv831095	chr7:109518164-109712240	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv608108	chr7:109534349-109644867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv888953	chr7:109534349-109648212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1024551	chr7:109541744-109644014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv608109	chr7:109542198-109642442	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv888954	chr7:109558437-109616277	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv608110	chr7:109558437-109644867	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1033309	chr7:109567406-109834887	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv539057	chr7:109567406-109834887	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv608111	chr7:109570757-109648212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109598800-109601000	Weak transcription	Dnd41	blood

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