Variant report

Variant	rs555954205
Chromosome Location	chr12:31075947-31075948
allele	A/C
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	chr12:31075924-31075974	PrEC	prostate:	n/a
2	chr12:31075924-31075974	HCT-116	colon:	n/a
3	chr12:31075924-31075974	HL-60	blood:	n/a
4	chr12:31075924-31075974	NHBE	bronchial:	n/a
5	chr12:31075924-31075974	A549	lung:	n/a
6	chr12:31075924-31075974	MCF-7	breast:	n/a
7	chr12:31075924-31075974	K562	blood:	n/a
8	chr12:31075924-31075974	U87	brain:	n/a
9	chr12:31075924-31075974	SK-N-SH	brain:	n/a
10	chr12:31075924-31075974	IMR90	lung:	fetal
11	chr12:31075924-31075974	HCF	heart:	n/a
12	chr12:31075924-31075974	SKMC	muscle:	n/a
13	chr12:31075924-31075974	HepG2	liver:	n/a
14	chr12:31075924-31075974	NHDF-neo	bronchial:	n/a
15	chr12:31075924-31075974	ECC-1	luminal epithelium:	n/a
16	chr12:31075924-31075974	SK-N-SH_RA	brain:	n/a
17	chr12:31075924-31075974	GM06990	blood:	n/a
18	chr12:31075924-31075974	Jurkat	blood:	n/a
19	chr12:31075924-31075974	NH-A	brain:	n/a
20	chr12:31075924-31075974	PANC-1	pancreas:	n/a
21	chr12:31075924-31075974	HEEpiC	esophagus:	n/a
22	chr12:31075924-31075974	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:31075924-31075974	MCF10A-Er-Src	breast:	n/a
24	chr12:31075924-31075974	AG09319	gingival:	n/a
25	chr12:31075924-31075974	GM12891	blood:	n/a
26	chr12:31075924-31075974	AoSMC	blood vessel:	n/a
27	chr12:31075924-31075974	HRPEpiC	eye:	n/a
28	chr12:31075924-31075974	GM19239	blood:	n/a
29	chr12:31075924-31075974	HAEpiC	amniotic membrane:	n/a
30	chr12:31075924-31075974	AG04450	lung:	fetal
31	chr12:31075924-31075974	BJ	skin:	n/a
32	chr12:31075924-31075974	HIPEpiC	eye:	n/a
33	chr12:31075924-31075974	T-47D	breast:	n/a
34	chr12:31075924-31075974	HRCEpiC	kidney:	n/a
35	chr12:31075924-31075974	SAEC	small airway:	n/a
36	chr12:31075924-31075974	HNPCEpiC	eye:	n/a
37	chr12:31075924-31075974	GM12878	blood:	n/a
38	chr12:31075924-31075974	RPTEC	kidney:	n/a
39	chr12:31075924-31075974	LNCaP	prostate:	n/a
40	chr12:31075924-31075974	CMK	blood:	n/a
41	chr12:31075924-31075974	HCPEpiC	choroid plexus:	n/a
42	chr12:31075924-31075974	NB4	blood:	n/a
43	chr12:31075924-31075974	HEK293	kidney:	embryo
44	chr12:31075924-31075974	AG09309	skin:	n/a
45	chr12:31075924-31075974	PFSK-1	brain:	n/a
46	chr12:31075924-31075974	Caco-2	colon:	n/a
47	chr12:31075924-31075974	HRE	kidney:	n/a
48	chr12:31075924-31075974	ovcar-3	ovarian:	n/a
49	chr12:31075924-31075974	HCM	heart:	n/a
50	chr12:31075924-31075974	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
TSPAN11	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv1051648	chr12:31069125-31103671	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv658	chr12:31072400-31108649	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr12:31075600-31076400	Enhancers	Right Atrium	heart

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