Variant report

Variant	rs2697187
Chromosome Location	chr7:121038155-121038156
allele	C/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	RFX5	chr7:121038048-121038304	K562	blood:	n/a	n/a
2	POLR2A	chr7:121038144-121038227	MCF10A-Er-Src	breast:	n/a	n/a
3	SP1	chr7:121037956-121038761	HCT-116	colon:	n/a	chr7:121038057-121038071
4	CTCF	chr7:121038150-121038711	K562	blood:	n/a	n/a
5	ARID3A	chr7:121037989-121038599	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAM3C	TF binding region
CYCSP19	TF binding region

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10236043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244034	0.90[AFR][1000 genomes]
rs10248073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1819052	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2141361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697182	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697183	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697184	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697185	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707523	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2707524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2952582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4262270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs798911	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv966879	chr7:121037613-121041162	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121036800-121038400	Weak transcription	Pancreas	Pancrea
2	chr7:121036800-121038800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:121036800-121041400	Weak transcription	HSMM	muscle
4	chr7:121036800-121043800	Weak transcription	Ovary	ovary
5	chr7:121037000-121038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:121037000-121038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121037000-121038400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:121037000-121038600	Enhancers	Stomach Mucosa	stomach
9	chr7:121037000-121038800	Enhancers	Fetal Intestine Large	intestine
10	chr7:121037000-121039000	Enhancers	Fetal Intestine Small	intestine
11	chr7:121037000-121040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:121037000-121041000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:121037000-121041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:121037000-121041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:121037000-121041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:121037000-121042000	Weak transcription	NHDF-Ad	bronchial
17	chr7:121037000-121042600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:121037200-121038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:121037200-121038400	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:121037400-121038400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:121037600-121038200	Weak transcription	Fetal Kidney	kidney
22	chr7:121037800-121038400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:121037800-121038600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:121038000-121038600	Active TSS	Liver	Liver
25	chr7:121038000-121038600	Active TSS	HepG2	liver

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