Variant report

Variant	rs1362519
Chromosome Location	chr6:13695223-13695224
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13693942..13695810-chr6:13697116..13698961,2	K562	blood:
2	chr6:13693992..13697221-chr6:13708052..13711450,4	MCF-7	breast:
3	chr6:13614250..13617216-chr6:13693640..13696546,2	MCF-7	breast:
4	chr6:13691306..13693864-chr6:13695080..13696699,2	K562	blood:
5	chr6:13694062..13696110-chr6:13700169..13702191,2	MCF-7	breast:
6	chr6:13682312..13686994-chr6:13694386..13698370,5	K562	blood:
7	chr6:13693617..13697413-chr6:13709395..13713836,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10948811	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11755634	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11970591	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1362520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573702	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2071836	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2080415	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2237092	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3846912	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3906327	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4715455	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59120082	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6458997	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6459003	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6459020	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6459025	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6911121	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6915775	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6940759	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829117	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72831038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7741241	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7744218	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13667600-13695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
3	chr6:13673400-13695800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:13677800-13699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:13679000-13695600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:13679000-13695800	Weak transcription	Thymus	Thymus
7	chr6:13679000-13695800	Weak transcription	NHEK	skin
8	chr6:13679000-13699800	Weak transcription	Pancreas	Pancrea
9	chr6:13679000-13700400	Weak transcription	Right Ventricle	heart
10	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:13679200-13696800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:13679400-13695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:13679600-13703400	Weak transcription	HUVEC	blood vessel
14	chr6:13681000-13695800	Weak transcription	Liver	Liver
15	chr6:13681000-13695800	Weak transcription	NH-A	brain
16	chr6:13681000-13708600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:13684800-13695800	Weak transcription	Fetal Lung	lung
18	chr6:13684800-13699800	Strong transcription	Dnd41	blood
19	chr6:13685200-13696000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:13686800-13697400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:13687000-13695800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:13688200-13703200	Weak transcription	Lung	lung
24	chr6:13688800-13703200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:13689000-13697600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:13689200-13696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:13689200-13703200	Weak transcription	Spleen	Spleen
28	chr6:13689600-13695800	Weak transcription	Fetal Brain Male	brain
29	chr6:13689800-13697200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:13689800-13698400	Weak transcription	Psoas Muscle	Psoas
31	chr6:13689800-13702400	Weak transcription	Fetal Stomach	stomach
32	chr6:13690000-13696000	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:13690400-13695400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:13690400-13696400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:13690400-13707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:13690600-13695800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:13690600-13696400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr6:13690600-13707600	Weak transcription	Fetal Kidney	kidney
39	chr6:13690600-13708400	Weak transcription	Aorta	Aorta
40	chr6:13690800-13695800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:13690800-13697200	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:13690800-13703200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:13690800-13703600	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:13691200-13695400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:13691200-13695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:13691200-13703200	Weak transcription	Brain Anterior Caudate	brain
47	chr6:13691200-13708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:13692000-13707600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:13692200-13708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:13692400-13697200	Strong transcription	HepG2	liver

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