Variant report

Variant	rs73705278
Chromosome Location	chr7:87256643-87256644
allele	A/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	MXI1	chr7:87256278-87259066	SK-N-SH	brain:	n/a	n/a
2	NRF1	chr7:87256535-87258142	SK-N-SH	brain:	n/a	chr7:87257690-87257699
3	REST	chr7:87256621-87258924	H1-neurons	neurons:	n/a	chr7:87258412-87258425 chr7:87258409-87258422 chr7:87258406-87258424 chr7:87258405-87258425 chr7:87258407-87258415 chr7:87258405-87258425 chr7:87258405-87258425

Variant related genes	Relation type
RUNDC3B	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs28381711	1.00[AMR][1000 genomes]
rs28381755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28381769	0.94[AFR][1000 genomes]
rs28381791	0.83[AFR][1000 genomes]
rs28381792	0.83[AFR][1000 genomes]
rs28381795	0.95[AFR][1000 genomes]
rs55787809	1.00[AMR][1000 genomes]
rs55789004	1.00[AMR][1000 genomes]
rs55843951	1.00[AMR][1000 genomes]
rs55990608	1.00[AMR][1000 genomes]
rs56208559	1.00[AMR][1000 genomes]
rs56225435	1.00[AMR][1000 genomes]
rs56397035	1.00[AMR][1000 genomes]
rs58093582	1.00[AMR][1000 genomes]
rs58101885	1.00[AMR][1000 genomes]
rs59091064	1.00[AMR][1000 genomes]
rs6962731	1.00[AMR][1000 genomes]
rs6974534	1.00[AMR][1000 genomes]
rs73705274	0.95[AFR][1000 genomes]
rs73706904	1.00[AMR][1000 genomes]
rs73706908	1.00[AMR][1000 genomes]
rs73706911	1.00[AMR][1000 genomes]
rs73706913	1.00[AMR][1000 genomes]
rs73706917	1.00[AMR][1000 genomes]
rs73706919	1.00[AMR][1000 genomes]
rs73706920	1.00[AMR][1000 genomes]
rs73706921	1.00[AMR][1000 genomes]
rs73706923	1.00[AMR][1000 genomes]
rs73706928	1.00[AMR][1000 genomes]
rs7786524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv3374777	chr7:87254566-87256764	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87256600-87256800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:87256600-87256800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:87256600-87256800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:87256600-87256800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr7:87256600-87256800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87256600-87256800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:87256600-87256800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:87256600-87256800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:87256600-87256800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr7:87256600-87256800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:87256600-87256800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:87256600-87256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:87256600-87256800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:87256600-87256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:87256600-87256800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:87256600-87256800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:87256600-87256800	Enhancers	Adipose Nuclei	Adipose
18	chr7:87256600-87256800	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:87256600-87256800	Active TSS	Brain Germinal Matrix	brain
20	chr7:87256600-87256800	Enhancers	Colonic Mucosa	Colon
21	chr7:87256600-87256800	Enhancers	Fetal Brain Female	brain
22	chr7:87256600-87256800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:87256600-87256800	Enhancers	Ovary	ovary
24	chr7:87256600-87256800	Enhancers	Pancreas	Pancrea
25	chr7:87256600-87256800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:87256600-87256800	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:87256600-87256800	Enhancers	Right Ventricle	heart
28	chr7:87256600-87256800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:87256600-87256800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:87256600-87256800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:87256600-87256800	Enhancers	Spleen	Spleen
32	chr7:87256600-87256800	Enhancers	GM12878-XiMat	blood
33	chr7:87256600-87256800	Active TSS	NH-A	brain
34	chr7:87256600-87256800	Enhancers	NHEK	skin
35	chr7:87256600-87257000	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr7:87256600-87257000	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:87256600-87257000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
38	chr7:87256600-87257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:87256600-87257000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:87256600-87257200	Flanking Bivalent TSS/Enh	A549	lung
41	chr7:87256600-87257400	Flanking Active TSS	Liver	Liver
42	chr7:87256600-87257600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:87256600-87258800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:87256600-87259000	Active TSS	Brain Anterior Caudate	brain
45	chr7:87256600-87259200	Active TSS	Brain Hippocampus Middle	brain
46	chr7:87256600-87259600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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