Variant report

Variant	rs72612610
Chromosome Location	chr7:79856852-79856853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10241540	0.82[ASN][1000 genomes]
rs17147931	0.83[ASN][1000 genomes]
rs17153598	0.94[ASN][1000 genomes]
rs6973017	1.00[ASN][1000 genomes]
rs72612609	0.94[ASN][1000 genomes]
rs72612611	1.00[ASN][1000 genomes]
rs72612612	1.00[ASN][1000 genomes]
rs72612613	1.00[ASN][1000 genomes]
rs72612614	1.00[ASN][1000 genomes]
rs72612615	1.00[ASN][1000 genomes]
rs72612616	1.00[ASN][1000 genomes]
rs72612618	0.82[ASN][1000 genomes]
rs7783639	0.94[ASN][1000 genomes]
rs7789551	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
5	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:79846800-79861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:79848800-79860600	Weak transcription	NHEK	skin
8	chr7:79849200-79859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:79849400-79859400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:79849400-79860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:79849600-79859600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:79849600-79860600	Weak transcription	HMEC	breast
13	chr7:79850000-79857400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:79850200-79860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:79850200-79861000	Weak transcription	NHLF	lung
16	chr7:79850400-79866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:79851600-79859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:79851600-79860800	Weak transcription	A549	lung
19	chr7:79852000-79859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:79852200-79861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:79853800-79858200	Enhancers	Fetal Lung	lung
22	chr7:79854000-79859400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:79854200-79859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:79854600-79859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:79855000-79857600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:79855000-79859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:79855000-79859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:79855000-79859600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:79855200-79859000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:79855200-79859200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:79855200-79859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:79855200-79859200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:79855200-79859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:79855200-79859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:79855200-79859400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:79855200-79860000	Weak transcription	HSMM	muscle
37	chr7:79855200-79860800	Weak transcription	NHDF-Ad	bronchial
38	chr7:79855400-79859200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:79855400-79859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:79855400-79859400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:79855400-79859400	Weak transcription	Adipose Nuclei	Adipose
42	chr7:79855400-79859600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:79855400-79859600	Weak transcription	Osteobl	bone
44	chr7:79856800-79861200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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