Variant report

Variant	rs13245015
Chromosome Location	chr7:5014683-5014684
allele	A/G
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	CTCF	chr7:5013153-5014735	SK-N-SH	brain:	n/a	chr7:5014126-5014139
2	MXI1	chr7:5013281-5014756	IMR90	lung:	n/a	chr7:5013398-5013407
3	NRF1	chr7:5013198-5014707	SK-N-SH	brain:	n/a	chr7:5014418-5014432 chr7:5013648-5013659 chr7:5014165-5014174
4	MXI1	chr7:5013260-5015009	SK-N-SH	brain:	n/a	chr7:5013398-5013407

No.	Distal block	Cell Line	Cell type
1	chr7:5012537..5014887-chr7:5022005..5024140,2	K562	blood:
2	chr7:5013631..5016563-chr7:5022027..5023765,2	K562	blood:
3	chr7:5012957..5014985-chr7:5085347..5086905,2	MCF-7	breast:
4	chr7:5012983..5015694-chr7:5819277..5821133,2	K562	blood:

Variant related genes	Relation type
RNF216P1	TF binding region
ENSG00000196204	Chromatin interaction
ENSG00000146587	Chromatin interaction
ENSG00000011275	Chromatin interaction
ENSG00000272968	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11981905	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6957907	0.82[EUR][1000 genomes]
rs6978215	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers 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	14 gene(s)	inside rSNPs	diseases
10	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking 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	12 gene(s)	inside rSNPs	diseases
11	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
13	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv525289	chr7:5003373-5083741	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3379760	chr7:5012976-5014924	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5012800-5014800	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr7:5013200-5014800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:5013200-5014800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:5013200-5014800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:5013200-5014800	Active TSS	Colonic Mucosa	Colon
6	chr7:5013200-5014800	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:5013200-5014800	Active TSS	Fetal Stomach	stomach
8	chr7:5013200-5014800	Active TSS	HUVEC	blood vessel
9	chr7:5013200-5014800	Active TSS	NHDF-Ad	bronchial
10	chr7:5013200-5015000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:5013200-5015000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:5013200-5015000	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:5013200-5015000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:5013200-5015000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:5013200-5015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:5013200-5015000	Active TSS	Brain Angular Gyrus	brain
17	chr7:5013200-5015000	Active TSS	Brain Anterior Caudate	brain
18	chr7:5013200-5015000	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:5013200-5015000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:5013200-5015000	Active TSS	Fetal Brain Female	brain
21	chr7:5013200-5015000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:5013200-5015000	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:5013200-5015000	Active TSS	A549	lung
24	chr7:5013200-5015000	Active TSS	GM12878-XiMat	blood
25	chr7:5013200-5015000	Active TSS	Osteobl	bone
26	chr7:5013200-5015200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:5013200-5015200	Active TSS	Psoas Muscle	Psoas
28	chr7:5013200-5015200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:5013200-5015200	Active TSS	Right Ventricle	heart
30	chr7:5013200-5015200	Active TSS	HMEC	breast
31	chr7:5013200-5015200	Active TSS	HSMM	muscle
32	chr7:5013200-5015200	Active TSS	K562	blood
33	chr7:5013200-5015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:5013200-5015400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:5013200-5015400	Active TSS	Hela-S3	cervix
36	chr7:5013200-5015400	Active TSS	NHLF	lung
37	chr7:5013400-5014800	Active TSS	Primary T cells from cord blood	blood
38	chr7:5013400-5014800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:5013400-5014800	Active TSS	Fetal Intestine Large	intestine
40	chr7:5013400-5014800	Active TSS	Ovary	ovary
41	chr7:5013400-5014800	Active TSS	Pancreas	Pancrea
42	chr7:5013400-5014800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:5013400-5014800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:5013400-5014800	Active TSS	Right Atrium	heart
45	chr7:5013400-5014800	Active TSS	NHEK	skin
46	chr7:5013400-5015000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:5013400-5015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:5013400-5015000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:5013400-5015000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:5013400-5015000	Active TSS	Fetal Intestine Small	intestine

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