Variant report

Variant	rs11780128
Chromosome Location	chr8:124463018-124463019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124442147..124444200-chr8:124462793..124464378,2	K562	blood:
2	chr8:124461813..124463440-chr8:124779837..124782063,2	K562	blood:
3	chr8:124460504..124463401-chr8:124780596..124782179,2	MCF-7	breast:
4	chr8:124442700..124445613-chr8:124461517..124464378,2	K562	blood:

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10091979	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10106648	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106777	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110934	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956133	0.83[ASN][1000 genomes]
rs10956134	0.83[ASN][1000 genomes]
rs10956135	0.83[ASN][1000 genomes]
rs11777701	0.80[ASN][1000 genomes]
rs11781261	0.80[ASN][1000 genomes]
rs11784408	0.80[ASN][1000 genomes]
rs11987269	0.80[ASN][1000 genomes]
rs11994251	0.80[ASN][1000 genomes]
rs11998220	0.80[ASN][1000 genomes]
rs12235062	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541494	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12545841	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547262	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675493	0.80[ASN][1000 genomes]
rs12675771	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13250937	0.83[ASN][1000 genomes]
rs13254442	0.80[ASN][1000 genomes]
rs13255484	0.80[ASN][1000 genomes]
rs13265801	0.80[ASN][1000 genomes]
rs13266596	0.80[ASN][1000 genomes]
rs13266673	0.80[ASN][1000 genomes]
rs13273789	0.81[ASN][1000 genomes]
rs13276753	0.80[ASN][1000 genomes]
rs13278697	0.83[ASN][1000 genomes]
rs1967032	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2125589	0.80[ASN][1000 genomes]
rs28471679	0.81[ASN][1000 genomes]
rs28485832	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28570131	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28633322	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34345458	0.83[ASN][1000 genomes]
rs3779986	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779988	0.80[ASN][1000 genomes]
rs3824252	0.93[ASN][1000 genomes]
rs3824253	0.80[ASN][1000 genomes]
rs3824254	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824256	0.80[ASN][1000 genomes]
rs3905739	0.87[EUR][1000 genomes]
rs3932063	0.80[ASN][1000 genomes]
rs3932064	0.80[ASN][1000 genomes]
rs4419795	0.80[ASN][1000 genomes]
rs4637807	0.80[ASN][1000 genomes]
rs4870853	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871363	0.86[EUR][1000 genomes]
rs4871378	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871380	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55766597	0.87[EUR][1000 genomes]
rs56286987	0.80[ASN][1000 genomes]
rs57128794	0.82[EUR][1000 genomes]
rs6470153	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982267	0.80[ASN][1000 genomes]
rs6993896	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994095	0.81[ASN][1000 genomes]
rs6994481	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7001767	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012822	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7341643	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822061	0.80[ASN][1000 genomes]
rs7825101	0.83[ASN][1000 genomes]
rs7825449	0.83[ASN][1000 genomes]
rs7825820	0.80[ASN][1000 genomes]
rs7825955	0.83[ASN][1000 genomes]
rs7826350	0.80[ASN][1000 genomes]
rs7827492	0.93[ASN][1000 genomes]
rs7831029	0.80[ASN][1000 genomes]
rs7843891	0.83[ASN][1000 genomes]
rs9969567	0.81[ASN][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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11780128	C8orf32	Cis_1M	lymphoblastoid	RTeQTL
rs11780128	WDYHV1	cis	lung	GTEx
rs11780128	WDYHV1	cis	Skin Sun Exposed Lower leg	GTEx
rs11780128	WDYHV1	cis	Muscle Skeletal	GTEx
rs11780128	WDYHV1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
2	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
3	chr8:124436600-124464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124445600-124465400	Weak transcription	Pancreas	Pancrea
5	chr8:124447600-124467800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:124449600-124490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:124451400-124489400	Weak transcription	Spleen	Spleen
8	chr8:124452000-124467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:124453600-124464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:124453800-124464000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:124454000-124463200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:124454000-124465000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:124454000-124467400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:124454000-124467800	Weak transcription	Esophagus	oesophagus
15	chr8:124454000-124468200	Weak transcription	NHLF	lung
16	chr8:124454000-124472800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:124454000-124478400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:124454000-124489400	Weak transcription	Gastric	stomach
19	chr8:124454200-124465400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:124454200-124465400	Weak transcription	HSMMtube	muscle
21	chr8:124454400-124467600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:124454400-124478200	Weak transcription	HSMM	muscle
23	chr8:124454400-124478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:124454400-124478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:124454600-124465200	Weak transcription	Placenta	Placenta
26	chr8:124454600-124467800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:124454600-124468400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:124454600-124477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:124454600-124489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:124454600-124489200	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:124455000-124466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:124456200-124472400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:124459000-124472400	Weak transcription	HUVEC	blood vessel
34	chr8:124459200-124464600	Weak transcription	GM12878-XiMat	blood
35	chr8:124459200-124465800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:124459200-124466000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:124459200-124466800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:124459200-124467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:124459200-124468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:124459200-124472200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:124459200-124473200	Weak transcription	HepG2	liver
42	chr8:124459200-124473800	Weak transcription	Primary B cells from cord blood	blood
43	chr8:124459400-124465200	Weak transcription	Hela-S3	cervix
44	chr8:124460200-124464200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:124460400-124468400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:124460400-124468600	Weak transcription	Fetal Brain Female	brain
47	chr8:124460400-124472800	Weak transcription	Fetal Intestine Large	intestine
48	chr8:124460400-124472800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:124460400-124473000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:124460400-124478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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