Variant report

Variant	rs73135572
Chromosome Location	chr7:78398562-78398563
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1207807	1.00[ASN][1000 genomes]
rs1799002	1.00[ASN][1000 genomes]
rs477641	1.00[ASN][1000 genomes]
rs480203	1.00[ASN][1000 genomes]
rs518676	1.00[ASN][1000 genomes]
rs537574	1.00[ASN][1000 genomes]
rs561356	1.00[ASN][1000 genomes]
rs62468654	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78391800-78398800	Weak transcription	Pancreas	Pancrea
2	chr7:78396600-78400600	Active TSS	Fetal Brain Female	brain
3	chr7:78397400-78400600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:78397400-78400800	Active TSS	Fetal Brain Male	brain
5	chr7:78397600-78401000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr7:78397800-78400800	Active TSS	Brain Angular Gyrus	brain
7	chr7:78397800-78400800	Active TSS	Brain Anterior Caudate	brain
8	chr7:78397800-78400800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:78397800-78401000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:78398000-78398600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:78398000-78398600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:78398000-78398800	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:78398000-78400600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:78398000-78400600	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:78398000-78400600	Active TSS	Brain Hippocampus Middle	brain
16	chr7:78398000-78400800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:78398000-78400800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:78398000-78401000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:78398200-78398600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:78398200-78398600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:78398200-78398600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:78398200-78398600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:78398200-78398600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:78398200-78398800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:78398200-78399000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:78398200-78399000	Enhancers	Lung	lung
27	chr7:78398200-78399200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:78398200-78399200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:78398200-78399800	Active TSS	Ovary	ovary
30	chr7:78398200-78400600	Active TSS	Right Ventricle	heart
31	chr7:78398200-78400800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:78398200-78400800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:78398200-78400800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:78398200-78400800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:78398200-78400800	Active TSS	Fetal Muscle Trunk	muscle
36	chr7:78398200-78400800	Active TSS	Right Atrium	heart
37	chr7:78398400-78398600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:78398400-78398600	Flanking Active TSS	Aorta	Aorta
39	chr7:78398400-78398600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr7:78398400-78398600	Flanking Active TSS	Fetal Lung	lung
41	chr7:78398400-78398800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:78398400-78398800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:78398400-78398800	Flanking Active TSS	Osteobl	bone
44	chr7:78398400-78399000	Active TSS	Fetal Stomach	stomach
45	chr7:78398400-78399200	Active TSS	Fetal Muscle Leg	muscle
46	chr7:78398400-78399200	Active TSS	NH-A	brain
47	chr7:78398400-78399400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:78398400-78399400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:78398400-78399400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:78398400-78399400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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