Variant report

Variant	rs6969037
Chromosome Location	chr7:48494183-48494184
allele	C/G/T
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:1)
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	chr7:48494156-48494206	HRE	kidney:	n/a
2	chr7:48494156-48494206	IMR90	lung:	fetal
3	chr7:48494156-48494206	AG04450	lung:	fetal
4	chr7:48494156-48494206	GM12892	blood:	n/a
5	chr7:48494156-48494206	Caco-2	colon:	n/a
6	chr7:48494156-48494206	RPTEC	kidney:	n/a
7	chr7:48494156-48494206	HRCEpiC	kidney:	n/a
8	chr7:48494156-48494206	NB4	blood:	n/a
9	chr7:48494156-48494206	HepG2	liver:	n/a
10	chr7:48494156-48494206	SK-N-MC	brain:	n/a
11	chr7:48494156-48494206	AG10803	skin:	n/a
12	chr7:48494156-48494206	MCF10A-Er-Src	breast:	n/a
13	chr7:48494156-48494206	A549	lung:	n/a
14	chr7:48494156-48494206	BJ	skin:	n/a
15	chr7:48494156-48494206	SAEC	small airway:	n/a
16	chr7:48494156-48494206	Hela-S3	cervix:	n/a
17	chr7:48494156-48494206	GM06990	blood:	n/a
18	chr7:48494156-48494206	HIPEpiC	eye:	n/a
19	chr7:48494156-48494206	PANC-1	pancreas:	n/a
20	chr7:48494156-48494206	HMEC	breast:	n/a
21	chr7:48494156-48494206	HCF	heart:	n/a
22	chr7:48494156-48494206	SK-N-SH	brain:	n/a
23	chr7:48494156-48494206	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:48494156-48494206	PFSK-1	brain:	n/a
25	chr7:48494156-48494206	HEK293	kidney:	embryo
26	chr7:48494156-48494206	MCF-7	breast:	n/a
27	chr7:48494156-48494206	HRPEpiC	eye:	n/a
28	chr7:48494156-48494206	LNCaP	prostate:	n/a
29	chr7:48494156-48494206	SK-N-SH_RA	brain:	n/a
30	chr7:48494156-48494206	GM12891	blood:	n/a
31	chr7:48494156-48494206	NT2-D1	testis:	n/a
32	chr7:48494156-48494206	HEEpiC	esophagus:	n/a
33	chr7:48494156-48494206	BE2_C	brain:	n/a
34	chr7:48494156-48494206	HL-60	blood:	n/a
35	chr7:48494156-48494206	GM19239	blood:	n/a
36	chr7:48494156-48494206	K562	blood:	n/a
37	chr7:48494156-48494206	PrEC	prostate:	n/a
38	chr7:48494156-48494206	T-47D	breast:	n/a
39	chr7:48494156-48494206	Jurkat	blood:	n/a
40	chr7:48494156-48494206	Hepatocyte	liver:	n/a
41	chr7:48494156-48494206	HCPEpiC	choroid plexus:	n/a
42	chr7:48494156-48494206	NHBE	bronchial:	n/a
43	chr7:48494156-48494206	HNPCEpiC	eye:	n/a
44	chr7:48494156-48494206	AG04449	skin:	fetal
45	chr7:48494156-48494206	NH-A	brain:	n/a
46	chr7:48494156-48494206	ovcar-3	ovarian:	n/a
47	chr7:48494156-48494206	ProgFib	skin:	n/a
48	chr7:48494156-48494206	U87	brain:	n/a
49	chr7:48494156-48494206	AG09309	skin:	n/a
50	chr7:48494156-48494206	H1-hESC	embryonic stem cell:	embryo

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUN3-5	chr7:48491789-48495224	NONHSAT120528

No data

Variant related genes	Relation type
ABCA13	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1975193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv888007	chr7:48467581-48533508	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:48468000-48500000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48487000-48494200	Weak transcription	Spleen	Spleen
3	chr7:48491000-48496400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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