Variant report

Variant	rs35511719
Chromosome Location	chr6:13282442-13282443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1223397	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1223399	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1223400	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1223401	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1223402	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1223403	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1232392	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13191897	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13205692	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17700321	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17767967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202029	0.86[ASN][1000 genomes]
rs202032	0.86[ASN][1000 genomes]
rs2048552	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs20499	0.91[EUR][1000 genomes]
rs20500	0.89[EUR][1000 genomes]
rs34505804	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35549743	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs364493	0.88[ASN][1000 genomes]
rs3734878	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817737	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3817741	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3817742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71530382	0.84[ASN][1000 genomes]
rs9357660	0.82[EUR][1000 genomes]
rs9381884	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9395602	0.97[AMR][1000 genomes];0.97[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	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13267400-13283600	Weak transcription	Fetal Brain Female	brain
3	chr6:13268000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
5	chr6:13269600-13286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:13269600-13286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:13270200-13291600	Weak transcription	HSMM	muscle
8	chr6:13270400-13285400	Weak transcription	Fetal Heart	heart
9	chr6:13270600-13283600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
11	chr6:13273000-13283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:13273400-13286800	Weak transcription	Liver	Liver
13	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
14	chr6:13274000-13282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:13274000-13283800	Weak transcription	Brain Substantia Nigra	brain
16	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
19	chr6:13274600-13286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
22	chr6:13274800-13286600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
24	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:13275000-13282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:13275000-13285000	Weak transcription	Fetal Intestine Small	intestine
27	chr6:13275000-13286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:13275000-13287000	Weak transcription	Gastric	stomach
29	chr6:13275200-13286400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:13275600-13286600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:13275600-13287000	Weak transcription	Adipose Nuclei	Adipose
32	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:13276000-13282800	Weak transcription	Right Ventricle	heart
34	chr6:13276000-13287400	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr6:13277400-13286200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:13277400-13287000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:13277600-13284200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:13277800-13282800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:13277800-13285000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:13278800-13283600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:13279000-13283600	Weak transcription	Brain Germinal Matrix	brain
42	chr6:13279200-13285400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:13279200-13287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:13279400-13282800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:13279400-13286800	Weak transcription	Fetal Intestine Large	intestine
46	chr6:13279400-13287800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:13279600-13285400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:13280000-13283600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:13280000-13285000	Weak transcription	Brain Angular Gyrus	brain
50	chr6:13280000-13288000	Strong transcription	Brain Anterior Caudate	brain

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