Variant report

Variant	rs3758671
Chromosome Location	chr11:47273089-47273090
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47272878-47273099	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47268496..47273681-chr11:47277782..47283365,10	K562	blood:
2	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
3	chr11:47212303..47214125-chr11:47270585..47273410,2	MCF-7	breast:
4	chr11:47215606..47218098-chr11:47271095..47273524,2	MCF-7	breast:
5	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
6	chr11:47270532..47273351-chr11:47280081..47283365,3	K562	blood:
7	chr11:47273086..47275375-chr11:47290934..47292611,2	K562	blood:
8	chr11:47269349..47271049-chr11:47271703..47273485,2	K562	blood:
9	chr11:47270967..47273791-chr11:47284181..47286277,2	K562	blood:

No data

Variant related genes	Relation type
ACP2	TF binding region
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134575	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10838694	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11039157	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11530168	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12221497	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12573962	1.00[YRI][hapmap]
rs12575157	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576935	0.90[AMR][1000 genomes]
rs12577319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726390	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2290149	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3736101	1.00[YRI][hapmap]
rs3758668	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758674	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4647720	0.90[AMR][1000 genomes]
rs4647735	0.90[AMR][1000 genomes]
rs4647736	0.86[AMR][1000 genomes]
rs4647759	0.93[AMR][1000 genomes]
rs55764401	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56168519	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56177220	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56825896	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56886689	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs61896015	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61897859	0.90[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3758671	PACSIN3	cis	Esophagus Mucosa	GTEx

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	chr11:47271200-47275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:47271200-47276200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:47271200-47276600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47271400-47273400	Weak transcription	K562	blood
6	chr11:47271400-47274400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:47271400-47274600	Weak transcription	Fetal Stomach	stomach
8	chr11:47271400-47274800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:47271400-47274800	Weak transcription	Primary T cells from cord blood	blood
10	chr11:47271400-47274800	Weak transcription	Hela-S3	cervix
11	chr11:47271400-47275000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:47271400-47275000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47271400-47275000	Weak transcription	Placenta	Placenta
14	chr11:47271400-47275000	Weak transcription	Pancreas	Pancrea
15	chr11:47271400-47275000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:47271400-47275000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:47271400-47275000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:47271400-47275000	Weak transcription	Small Intestine	intestine
19	chr11:47271400-47275000	Weak transcription	Stomach Mucosa	stomach
20	chr11:47271400-47275000	Weak transcription	HSMMtube	muscle
21	chr11:47271400-47275200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:47271400-47275200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:47271400-47275200	Weak transcription	Brain Angular Gyrus	brain
24	chr11:47271400-47275200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:47271400-47275200	Weak transcription	Fetal Lung	lung
26	chr11:47271400-47275200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:47271400-47275200	Weak transcription	Fetal Thymus	thymus
28	chr11:47271400-47275200	Weak transcription	Psoas Muscle	Psoas
29	chr11:47271400-47275200	Weak transcription	Right Atrium	heart
30	chr11:47271400-47275200	Weak transcription	Right Ventricle	heart
31	chr11:47271400-47275200	Weak transcription	A549	lung
32	chr11:47271400-47275200	Weak transcription	HUVEC	blood vessel
33	chr11:47271400-47275200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:47271400-47275400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:47271400-47275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47271400-47275400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:47271400-47275400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:47271400-47275400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:47271400-47275400	Weak transcription	Brain Substantia Nigra	brain
40	chr11:47271400-47275400	Weak transcription	Fetal Heart	heart
41	chr11:47271400-47275400	Weak transcription	Fetal Kidney	kidney
42	chr11:47271400-47275400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:47271400-47275400	Weak transcription	NHLF	lung
44	chr11:47271400-47275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:47271400-47275600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:47271400-47275600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:47271400-47275600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:47271400-47275600	Weak transcription	HSMM	muscle
49	chr11:47271400-47275600	Weak transcription	NH-A	brain
50	chr11:47271400-47275600	Weak transcription	NHDF-Ad	bronchial

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