Variant report

Variant	rs60277420
Chromosome Location	chr13:94996400-94996401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12584548	0.84[EUR][1000 genomes]
rs17253836	0.82[ASN][1000 genomes]
rs17253857	0.86[EUR][1000 genomes]
rs2296566	0.91[ASN][1000 genomes]
rs28378852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28587431	0.87[ASN][1000 genomes]
rs60987661	0.87[ASN][1000 genomes]
rs73551890	0.83[EUR][1000 genomes]
rs7981682	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7986556	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7986931	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8002396	0.80[EUR][1000 genomes]
rs9516396	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516397	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516398	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9516401	0.87[ASN][1000 genomes]
rs9516402	0.84[EUR][1000 genomes]
rs9516403	0.87[ASN][1000 genomes]
rs9516404	0.86[EUR][1000 genomes]
rs9524444	0.82[ASN][1000 genomes]
rs9524447	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9524448	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9524449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9524454	0.87[ASN][1000 genomes]
rs9524463	0.86[EUR][1000 genomes]
rs9524467	0.85[ASN][1000 genomes]
rs9524469	0.80[ASN][1000 genomes]
rs9589970	0.87[ASN][1000 genomes]
rs9589972	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94979800-94996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94981800-94996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
6	chr13:94990400-94996800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach
8	chr13:94994600-94997200	Enhancers	Fetal Muscle Leg	muscle
9	chr13:94994600-94997200	Enhancers	Ovary	ovary
10	chr13:94994600-94998200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:94994800-94997800	Enhancers	Liver	Liver
12	chr13:94994800-94998200	Enhancers	HSMM	muscle
13	chr13:94994800-94998200	Enhancers	HSMMtube	muscle
14	chr13:94995000-94996600	Enhancers	Colon Smooth Muscle	Colon
15	chr13:94995000-94996600	Enhancers	Fetal Heart	heart
16	chr13:94995000-94997000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:94995000-94998400	Enhancers	NHDF-Ad	bronchial
18	chr13:94995200-94996800	Weak transcription	Fetal Thymus	thymus
19	chr13:94995200-94997000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr13:94995200-94997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:94995200-94997200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr13:94995200-95004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:94995400-94996600	Enhancers	Osteobl	bone
24	chr13:94995600-94996600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:94995600-94996600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:94995600-94996600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:94995600-94996800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:94995600-94996800	Enhancers	A549	lung
29	chr13:94995600-94997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:94995600-94997000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:94995600-94997000	Active TSS	Aorta	Aorta
32	chr13:94995600-94997200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:94995600-94998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:94995800-94996400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr13:94995800-94997200	Enhancers	Fetal Lung	lung
36	chr13:94996000-94996400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:94996000-94996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:94996000-94996400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr13:94996000-94996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:94996000-94996400	Weak transcription	Brain Substantia Nigra	brain
41	chr13:94996000-94996600	Enhancers	Rectal Smooth Muscle	rectum
42	chr13:94996000-94996600	Enhancers	Stomach Smooth Muscle	stomach
43	chr13:94996000-94997000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:94996000-94997800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr13:94996000-94998000	Enhancers	NH-A	brain
46	chr13:94996000-95000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:94996200-94996400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:94996200-94998000	Enhancers	HepG2	liver
49	chr13:94996400-94996600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:94996400-94996600	Enhancers	HUES48 Cell Line	embryonic stem cell

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