Variant report

Variant	rs7957255
Chromosome Location	chr12:31081130-31081131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1003460	0.87[EUR][1000 genomes]
rs11051079	1.00[AFR][1000 genomes]
rs11051082	1.00[AFR][1000 genomes]
rs11051178	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2241324	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2352530	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35399826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7139052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs720482	1.00[AFR][1000 genomes]
rs7309016	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs759771	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7980008	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv1047628	chr12:31080091-31149639	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31079200-31081600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
2	chr12:31079400-31084200	Enhancers	Fetal Lung	lung
3	chr12:31080000-31081200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:31080000-31081600	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr12:31080000-31083200	Weak transcription	Right Atrium	heart
6	chr12:31080000-31083200	Weak transcription	Right Ventricle	heart
7	chr12:31080200-31081200	Enhancers	HSMMtube	muscle
8	chr12:31080200-31081600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:31080200-31081800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:31080200-31084000	Enhancers	HUVEC	blood vessel
11	chr12:31080400-31081400	Weak transcription	Lung	lung
12	chr12:31080400-31081800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:31080400-31081800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr12:31080400-31081800	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:31080400-31083800	Weak transcription	Brain Substantia Nigra	brain
16	chr12:31080400-31084000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:31080400-31084400	Enhancers	Fetal Heart	heart
18	chr12:31080600-31081800	Weak transcription	Left Ventricle	heart
19	chr12:31080600-31084000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:31080600-31084000	Enhancers	Fetal Stomach	stomach
21	chr12:31080800-31081400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr12:31080800-31081600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr12:31081000-31081200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr12:31081000-31081200	Flanking Active TSS	Fetal Brain Female	brain
25	chr12:31081000-31081400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:31081000-31081600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:31081000-31083200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:31081000-31084000	Enhancers	Spleen	Spleen
29	chr12:31081000-31084400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:31081000-31105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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