Variant report

Variant	rs35879051
Chromosome Location	chr11:47275882-47275883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:47275226-47277002	IMR90	lung:	n/a	chr11:47276524-47276533 chr11:47275359-47275368
2	POLR2A	chr11:47275188-47275998	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47275834-47277056	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47274018..47276189-chr11:47289692..47292205,2	MCF-7	breast:
2	chr11:47236362..47238989-chr11:47273774..47276751,3	K562	blood:
3	chr11:47207035..47209076-chr11:47274353..47276041,2	K562	blood:
4	chr11:47274831..47277970-chr11:47278025..47280120,3	K562	blood:
5	chr11:47273867..47276931-chr11:47289002..47291937,3	MCF-7	breast:
6	chr11:47206818..47208802-chr11:47275094..47276860,2	MCF-7	breast:
7	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
8	chr11:47236362..47238989-chr11:47273774..47276076,2	K562	blood:
9	chr11:47269243..47272486-chr11:47273981..47276768,5	MCF-7	breast:
10	chr11:47275155..47277753-chr11:47277972..47280489,3	MCF-7	breast:
11	chr11:47275538..47277558-chr11:47290062..47292106,2	K562	blood:
12	chr11:47268932..47273259-chr11:47273972..47277777,9	K562	blood:

No data

Variant related genes	Relation type
NR1H3	TF binding region
ENSG00000134575	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10501321	0.89[EUR][1000 genomes]
rs1052373	0.85[EUR][1000 genomes]
rs1055510	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10742799	0.89[EUR][1000 genomes]
rs10742801	0.86[EUR][1000 genomes]
rs10838681	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10838684	0.90[EUR][1000 genomes]
rs10838690	0.88[EUR][1000 genomes]
rs10838691	0.86[EUR][1000 genomes]
rs10838692	0.86[EUR][1000 genomes]
rs10838693	0.86[EUR][1000 genomes]
rs11039156	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039166	0.88[EUR][1000 genomes]
rs11039167	0.84[EUR][1000 genomes]
rs12575456	0.88[EUR][1000 genomes]
rs1375688	0.88[EUR][1000 genomes]
rs1449627	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2013867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167079	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279239	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs326214	0.89[EUR][1000 genomes]
rs326222	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35677603	0.83[ASN][1000 genomes]
rs3758669	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758672	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3758673	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781621	0.88[EUR][1000 genomes]
rs3781622	0.86[EUR][1000 genomes]
rs3816725	0.88[EUR][1000 genomes]
rs3847502	0.88[EUR][1000 genomes]
rs4647757	0.80[AFR][1000 genomes]
rs4752822	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752824	0.88[EUR][1000 genomes]
rs4752825	0.86[EUR][1000 genomes]
rs4752973	0.88[AFR][1000 genomes]
rs4752980	0.88[EUR][1000 genomes]
rs59663860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896050	0.88[EUR][1000 genomes]
rs6485746	0.84[EUR][1000 genomes]
rs7109147	0.84[EUR][1000 genomes]
rs7109203	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7120118	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7120957	0.88[EUR][1000 genomes]
rs7124955	0.88[EUR][1000 genomes]
rs7127907	0.88[EUR][1000 genomes]
rs7129661	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7395581	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7940809	0.88[EUR][1000 genomes]
rs830085	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs901746	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35879051	PACSIN3	cis	Esophagus Mucosa	GTEx
rs35879051	ACP2	cis	Thyroid	GTEx
rs35879051	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47271000-47280800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47271200-47276200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:47271200-47276600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:47271400-47276200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:47271400-47276400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:47271400-47276400	Weak transcription	Gastric	stomach
7	chr11:47271400-47276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:47271400-47276600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:47271400-47278600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47271400-47278600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:47271400-47278600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:47271400-47278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:47271400-47278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:47271400-47278800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:47271400-47278800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:47271400-47278800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:47271400-47278800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:47271400-47278800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:47271400-47278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:47271400-47278800	Weak transcription	Esophagus	oesophagus
21	chr11:47271400-47279000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:47271400-47279000	Weak transcription	Fetal Brain Female	brain
23	chr11:47271400-47279000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:47271400-47279200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:47271400-47281000	Weak transcription	Thymus	Thymus
26	chr11:47271400-47281200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:47271400-47281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:47271400-47281200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:47271400-47281200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:47271600-47276000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47271600-47279000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:47272000-47278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:47272400-47286400	Weak transcription	Dnd41	blood
34	chr11:47274600-47276200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:47274600-47277000	Enhancers	Lung	lung
36	chr11:47274800-47276600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:47274800-47276800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:47274800-47277000	Enhancers	Hela-S3	cervix
39	chr11:47275000-47276000	Enhancers	Colon Smooth Muscle	Colon
40	chr11:47275000-47276400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:47275000-47276400	Enhancers	Colonic Mucosa	Colon
42	chr11:47275000-47276400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:47275000-47276600	Enhancers	Liver	Liver
44	chr11:47275000-47276600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:47275000-47276800	Enhancers	HSMMtube	muscle
46	chr11:47275000-47277000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:47275000-47277000	Enhancers	Left Ventricle	heart
48	chr11:47275000-47277000	Enhancers	Pancreas	Pancrea
49	chr11:47275000-47277000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:47275000-47277000	Enhancers	Small Intestine	intestine

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