Variant report

Variant	rs62385763
Chromosome Location	chr6:13424184-13424185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13423766..13425699-chr6:13428540..13431249,2	K562	blood:
2	chr6:13422912..13426230-chr6:13485786..13488463,3	MCF-7	breast:
3	chr6:13421809..13424895-chr6:13440143..13443244,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187461	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10807437	0.90[EUR][1000 genomes]
rs11753720	0.81[EUR][1000 genomes]
rs11754291	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11758233	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1550520	0.85[ASN][1000 genomes]
rs1550521	0.86[ASN][1000 genomes]
rs1837701	0.81[EUR][1000 genomes]
rs2119481	0.87[ASN][1000 genomes]
rs2119482	0.87[ASN][1000 genomes]
rs2119483	0.83[EUR][1000 genomes]
rs2165419	0.87[ASN][1000 genomes]
rs2327673	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4145562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs487607	0.90[EUR][1000 genomes]
rs494026	0.84[EUR][1000 genomes]
rs523221	0.81[EUR][1000 genomes]
rs565013	0.81[EUR][1000 genomes]
rs62386727	0.83[EUR][1000 genomes]
rs6458814	0.87[ASN][1000 genomes]
rs6458815	0.87[ASN][1000 genomes]
rs6910652	0.87[ASN][1000 genomes]
rs7742086	0.84[EUR][1000 genomes]
rs9296672	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357720	0.83[EUR][1000 genomes]
rs9370104	0.87[ASN][1000 genomes]
rs9395768	0.87[ASN][1000 genomes]
rs9463764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474117	0.83[AMR][1000 genomes];0.84[EUR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13411600-13424200	Enhancers	Right Ventricle	heart
2	chr6:13417200-13424200	Enhancers	Brain Angular Gyrus	brain
3	chr6:13417800-13424200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:13417800-13424200	Enhancers	Left Ventricle	heart
5	chr6:13417800-13424600	Enhancers	Right Atrium	heart
6	chr6:13417800-13424800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:13417800-13427000	Enhancers	Psoas Muscle	Psoas
8	chr6:13419200-13424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:13419200-13428200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:13419400-13429800	Enhancers	Fetal Lung	lung
11	chr6:13419600-13424200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:13420200-13427600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:13420200-13430000	Enhancers	Fetal Stomach	stomach
14	chr6:13420400-13425400	Weak transcription	NHEK	skin
15	chr6:13420400-13427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:13420600-13425400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:13420600-13425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:13420600-13428000	Weak transcription	Thymus	Thymus
19	chr6:13420800-13425600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:13421000-13425400	Weak transcription	Liver	Liver
21	chr6:13421000-13425400	Weak transcription	Placenta	Placenta
22	chr6:13421000-13427200	Weak transcription	Primary B cells from cord blood	blood
23	chr6:13421200-13425200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:13421200-13426400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:13421400-13424200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:13421400-13426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:13421400-13427800	Weak transcription	Primary T cells from cord blood	blood
28	chr6:13421800-13424200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:13422000-13424600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:13422000-13427800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:13422000-13428600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:13422200-13432800	Weak transcription	NHDF-Ad	bronchial
33	chr6:13422600-13424200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13422800-13424200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:13422800-13426400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:13423000-13425400	Weak transcription	Small Intestine	intestine
37	chr6:13423200-13424200	Enhancers	HUVEC	blood vessel
38	chr6:13423200-13425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:13423200-13427600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:13423400-13424200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:13423400-13424200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:13423400-13426000	Weak transcription	Fetal Brain Male	brain
43	chr6:13423400-13426200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:13423400-13426400	Weak transcription	Gastric	stomach
45	chr6:13423400-13427400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:13423400-13427800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:13423400-13428000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:13423400-13428200	Weak transcription	K562	blood
49	chr6:13423400-13428800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:13423400-13428800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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