Variant report

Variant	rs71549713
Chromosome Location	chr6:56379421-56379422
allele	AA/GC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56370282..56372107-chr6:56378887..56380737,2	K562	blood:
2	chr6:56359297..56362081-chr6:56378593..56380440,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11756977	0.80[AMR][1000 genomes]
rs35671304	0.80[AFR][1000 genomes]
rs4143827	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4236139	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4236140	0.82[ASN][1000 genomes]
rs4236142	0.83[AMR][1000 genomes]
rs4329120	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4346846	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4454141	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4466244	0.80[AMR][1000 genomes]
rs4472350	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4473850	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4712133	0.80[AMR][1000 genomes]
rs4715626	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4715627	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4715628	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4715631	0.80[AMR][1000 genomes]
rs6906792	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6914184	0.80[AMR][1000 genomes]
rs6919608	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6939305	0.80[ASN][1000 genomes]
rs7743011	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755361	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296849	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9349826	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9357921	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9367688	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9475711	0.88[ASN][1000 genomes]
rs9475713	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9475714	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
2	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:56357000-56382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:56357000-56383600	Strong transcription	NH-A	brain
6	chr6:56357000-56384000	Strong transcription	HSMM	muscle
7	chr6:56357200-56384200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:56360400-56382200	Strong transcription	Osteobl	bone
9	chr6:56360600-56381800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr6:56362400-56391200	Weak transcription	Esophagus	oesophagus
11	chr6:56362600-56385800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
13	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:56368400-56382400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:56369400-56380600	Strong transcription	HSMMtube	muscle
16	chr6:56370000-56382600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:56370600-56380400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:56371200-56380200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:56372200-56384200	Weak transcription	Hela-S3	cervix
20	chr6:56372800-56380200	Weak transcription	Aorta	Aorta
21	chr6:56373000-56382800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:56373000-56390800	Weak transcription	Placenta	Placenta
23	chr6:56373800-56380200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:56374200-56383400	Weak transcription	Right Ventricle	heart
25	chr6:56374200-56387000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:56374200-56390800	Weak transcription	Lung	lung
27	chr6:56374200-56391000	Weak transcription	Right Atrium	heart
28	chr6:56374400-56386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:56374400-56392000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:56374400-56396800	Weak transcription	Fetal Brain Female	brain
31	chr6:56374600-56379600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:56374600-56381200	Weak transcription	Brain Substantia Nigra	brain
33	chr6:56374600-56381400	Weak transcription	Brain Angular Gyrus	brain
34	chr6:56374600-56382000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:56374600-56383800	Weak transcription	Fetal Brain Male	brain
36	chr6:56374600-56390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:56374600-56391200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:56374600-56395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:56374600-56399600	Weak transcription	Fetal Thymus	thymus
40	chr6:56374800-56380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:56374800-56380200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:56374800-56381600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:56374800-56383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:56375000-56387000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:56375600-56382400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:56375800-56380200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:56376000-56379600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:56376000-56379800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:56376200-56380800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:56376400-56380200	Weak transcription	Ovary	ovary

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