Variant report

Variant	rs11778543
Chromosome Location	chr8:125653208-125653209
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
2	chr8:125648801..125651687-chr8:125651691..125654653,2	MCF-7	breast:
3	chr8:125651620..125655082-chr8:125825909..125828471,4	K562	blood:
4	chr8:125648425..125652159-chr8:125652603..125655556,5	K562	blood:
5	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10105407	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11780949	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4510845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870915	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871524	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871525	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56995505	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62530688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530689	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530690	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992199	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017138	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827042	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840832	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11778543	ZNF491	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125642800-125653600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:125643000-125653800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:125643800-125656000	Weak transcription	HMEC	breast
6	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125644200-125653800	Weak transcription	Hela-S3	cervix
8	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
10	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
12	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:125647000-125654400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:125647000-125655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125649400-125653600	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:125649600-125653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:125649600-125656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:125649800-125653600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
27	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
28	chr8:125650000-125653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:125650000-125653400	Weak transcription	Right Atrium	heart
30	chr8:125650000-125653600	Weak transcription	Stomach Mucosa	stomach
31	chr8:125650000-125653800	Weak transcription	Brain Angular Gyrus	brain
32	chr8:125650000-125654200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
35	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
36	chr8:125650200-125653600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:125650200-125654200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:125650200-125655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:125650400-125653600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:125650600-125653600	Weak transcription	HSMMtube	muscle
41	chr8:125650600-125653800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:125650600-125653800	Weak transcription	Fetal Brain Female	brain
43	chr8:125650800-125653400	Weak transcription	Brain Substantia Nigra	brain
44	chr8:125650800-125653400	Weak transcription	Fetal Brain Male	brain
45	chr8:125650800-125653600	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:125650800-125653600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:125650800-125656200	Weak transcription	HSMM	muscle
48	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:125651000-125653600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:125651000-125653600	Weak transcription	Fetal Kidney	kidney

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