Variant report

Variant	rs12706343
Chromosome Location	chr7:121037268-121037269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:121035647-121037750	K562	blood:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036920-121036928 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
2	MYC	chr7:121035637-121037669	K562	blood:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036920-121036928 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
3	MXI1	chr7:121035229-121037954	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr7:121036219-121037315	K562	blood:	n/a	chr7:121036449-121036462 chr7:121036448-121036464 chr7:121036425-121036438 chr7:121036449-121036462 chr7:121036447-121036465 chr7:121036299-121036312 chr7:121036453-121036462 chr7:121036450-121036460
5	MYC	chr7:121035644-121037285	MCF10A-Er-Src	breast:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036920-121036928 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
6	MYC	chr7:121036405-121037566	MCF10A-Er-Src	breast:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036920-121036928 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
7	POLR2A	chr7:121035663-121037368	HCT-116	colon:	n/a	n/a
8	TBL1XR1	chr7:121036245-121037334	K562	blood:	n/a	n/a
9	POLR2A	chr7:121035416-121037838	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121035002..121037392-chr7:121079786..121082049,2	K562	blood:
2	chr17:7386627..7387763-chr7:121036118..121037308,3	Hela-S3	cervix:
3	chr7:121034329..121037845-chrX:23092301..23095324,3	K562	blood:
4	chr7:121034886..121037643-chr7:121057416..121062764,7	MCF-7	breast:
5	chr7:121035574..121037845-chrX:23093806..23095324,2	K562	blood:

Variant related genes	Relation type
CYCSP19	TF binding region
FAM3C	TF binding region
ENSG00000181222	Chromatin interaction
ENSG00000234985	Chromatin interaction
ENSG00000174028	Chromatin interaction
ENSG00000227371	Chromatin interaction
ENSG00000174282	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11762263	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11762452	0.81[AMR][1000 genomes]
rs11768996	0.81[AMR][1000 genomes]
rs11770098	0.81[AMR][1000 genomes]
rs11771477	0.81[AMR][1000 genomes]
rs12706336	0.81[AMR][1000 genomes]
rs12706337	0.81[AMR][1000 genomes]
rs12706338	0.81[AMR][1000 genomes]
rs12706339	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12706341	0.81[AMR][1000 genomes]
rs12706342	0.81[AMR][1000 genomes]
rs13232217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13232320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1803389	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2707460	0.80[EUR][1000 genomes]
rs4727922	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4727925	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71571022	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:121036600-121037800	Enhancers	Fetal Heart	heart
2	chr7:121036800-121037400	Active TSS	HepG2	liver
3	chr7:121036800-121038400	Weak transcription	Pancreas	Pancrea
4	chr7:121036800-121038800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:121036800-121041400	Weak transcription	HSMM	muscle
6	chr7:121036800-121043800	Weak transcription	Ovary	ovary
7	chr7:121037000-121037400	Enhancers	Liver	Liver
8	chr7:121037000-121037400	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:121037000-121037400	Weak transcription	Fetal Kidney	kidney
10	chr7:121037000-121037800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:121037000-121038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:121037000-121038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:121037000-121038400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:121037000-121038600	Enhancers	Stomach Mucosa	stomach
15	chr7:121037000-121038800	Enhancers	Fetal Intestine Large	intestine
16	chr7:121037000-121039000	Enhancers	Fetal Intestine Small	intestine
17	chr7:121037000-121040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:121037000-121041000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:121037000-121041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:121037000-121041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:121037000-121041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:121037000-121042000	Weak transcription	NHDF-Ad	bronchial
23	chr7:121037000-121042600	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:121037200-121037400	Enhancers	Dnd41	blood
25	chr7:121037200-121037600	Enhancers	Brain Anterior Caudate	brain
26	chr7:121037200-121037600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:121037200-121037600	Weak transcription	Osteobl	bone
28	chr7:121037200-121037800	Enhancers	A549	lung
29	chr7:121037200-121038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:121037200-121038400	Weak transcription	Brain Hippocampus Middle	brain

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