Variant report

Variant	rs11763378
Chromosome Location	chr7:66645958-66645959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10155983	0.81[ASN][1000 genomes]
rs11760347	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11761027	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11761100	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11763377	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770378	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11773274	0.83[AFR][1000 genomes]
rs11773730	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17139656	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35042775	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3396991	chr7:66643642-66646140	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11763378	TYW1	cis	Nerve Tibial	GTEx
rs11763378	TYW1	cis	Heart Left Ventricle	GTEx
rs11763378	TYW1	cis	Esophagus Mucosa	GTEx
rs11763378	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66629000-66650200	Weak transcription	Fetal Thymus	thymus
4	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:66641800-66654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:66643000-66660000	Weak transcription	Dnd41	blood
7	chr7:66643200-66654200	Weak transcription	Pancreas	Pancrea
8	chr7:66644400-66659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:66644600-66647600	Weak transcription	HMEC	breast
11	chr7:66644600-66654400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:66644600-66659400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:66644800-66654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:66644800-66660200	Weak transcription	Adipose Nuclei	Adipose
15	chr7:66645000-66657600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:66645000-66660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:66645200-66647400	Weak transcription	Fetal Lung	lung
18	chr7:66645800-66655600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:66645800-66660000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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