Variant report

Variant	rs12135720
Chromosome Location	chr1:76138180-76138181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76135960..76138598-chr1:76257398..76259099,2	K562	blood:
2	chr1:76136446..76138259-chr1:76189741..76191373,2	K562	blood:
3	chr1:76136512..76138761-chr1:76260290..76263855,4	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000057468	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11164040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76136400-76139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:76136400-76139000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:76136600-76139000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:76136800-76138800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:76136800-76139000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:76136800-76139200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:76137200-76139000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:76137600-76138800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:76137600-76138800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:76137600-76139000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:76137600-76139000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:76137600-76139400	Flanking Active TSS	K562	blood
13	chr1:76137800-76138600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:76137800-76138800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:76137800-76139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:76137800-76139200	Enhancers	Hela-S3	cervix
17	chr1:76137800-76139400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:76137800-76139400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:76137800-76139400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:76137800-76139400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:76137800-76139800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:76138000-76138600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:76138000-76138800	Flanking Active TSS	HepG2	liver
24	chr1:76138000-76139000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:76138000-76139000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:76138000-76139200	Enhancers	HSMM	muscle
27	chr1:76138000-76139200	Enhancers	NHEK	skin
28	chr1:76138000-76139400	Enhancers	HMEC	breast
29	chr1:76138000-76139600	Enhancers	Placenta	Placenta

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