Variant report

Variant	rs7105372
Chromosome Location	chr11:8744219-8744220
allele	A/C
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:14)
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	ZNF263	chr11:8743805-8745256	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8727507..8730425-chr11:8743680..8745466,2	K562	blood:
2	chr11:8738896..8741204-chr11:8741689..8744420,2	K562	blood:
3	chr11:8723663..8725411-chr11:8742637..8744624,2	MCF-7	breast:
4	chr11:8742403..8744677-chr11:8890924..8893449,2	MCF-7	breast:
5	chr11:8701660..8705909-chr11:8738922..8746228,9	MCF-7	breast:
6	chr11:8739674..8741469-chr11:8742377..8744551,2	MCF-7	breast:
7	chr11:8727495..8731170-chr11:8743680..8746137,4	K562	blood:
8	chr11:8741961..8745889-chr11:8746837..8751403,4	MCF-7	breast:
9	chr11:8739900..8744386-chr11:8745369..8750564,8	K562	blood:
10	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
11	chr11:8709690..8711346-chr11:8743224..8745184,2	K562	blood:
12	chr11:8739926..8741501-chr11:8743026..8745396,2	MCF-7	breast:
13	chr11:8742799..8744509-chr11:8931400..8933878,2	MCF-7	breast:
14	chr11:8733189..8735360-chr11:8741990..8744947,2	K562	blood:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000200983	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10743086	0.93[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs10840119	0.93[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs10840120	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10840122	0.80[EUR][1000 genomes]
rs11042052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042064	0.94[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12269980	0.94[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap]
rs12287694	0.94[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs12420964	0.94[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs16906037	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3763917	0.94[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs3763919	0.89[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap]
rs3913547	0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs4082668	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4370937	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs55902154	0.84[EUR][1000 genomes]
rs61875931	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484007	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6484606	0.82[CEU][hapmap]
rs7131166	0.82[CEU][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7105372	PPFIBP2	cis	parietal	SCAN
rs7105372	ST5	cis	parietal	SCAN
rs7105372	RPL27A	cis	cerebellum	SCAN
rs7105372	OR51M1	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8723800-8745200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:8734800-8746800	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:8735400-8744800	Enhancers	Adipose Nuclei	Adipose
4	chr11:8735400-8745600	Enhancers	Right Atrium	heart
5	chr11:8735400-8753400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:8735600-8748200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:8736000-8745400	Genic enhancers	Fetal Stomach	stomach
8	chr11:8736200-8773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:8738000-8746800	Enhancers	Stomach Mucosa	stomach
10	chr11:8738400-8744800	Enhancers	Fetal Heart	heart
11	chr11:8738800-8744400	Enhancers	Brain Anterior Caudate	brain
12	chr11:8738800-8744800	Enhancers	Lung	lung
13	chr11:8738800-8745400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:8739200-8744400	Enhancers	HMEC	breast
15	chr11:8739200-8744800	Enhancers	Ovary	ovary
16	chr11:8739200-8745200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:8739200-8745400	Enhancers	Brain Hippocampus Middle	brain
18	chr11:8739200-8745600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:8739400-8744400	Enhancers	Placenta	Placenta
20	chr11:8739400-8744600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:8739400-8744600	Enhancers	Esophagus	oesophagus
22	chr11:8739400-8745200	Enhancers	Left Ventricle	heart
23	chr11:8739400-8746000	Enhancers	Fetal Intestine Large	intestine
24	chr11:8739400-8750200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:8739600-8744600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:8739800-8744800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:8739800-8745200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:8740000-8744400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:8740000-8744600	Enhancers	HepG2	liver
30	chr11:8740400-8745200	Enhancers	Liver	Liver
31	chr11:8740600-8746400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:8740800-8745400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:8740800-8746400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:8740800-8748200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:8741000-8746800	Genic enhancers	Fetal Muscle Leg	muscle
36	chr11:8741400-8745000	Enhancers	Colon Smooth Muscle	Colon
37	chr11:8741400-8745400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:8741400-8745400	Genic enhancers	HSMM	muscle
39	chr11:8741400-8745600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:8741600-8744400	Enhancers	HSMMtube	muscle
41	chr11:8741600-8744400	Enhancers	NH-A	brain
42	chr11:8741600-8745200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:8741600-8745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:8741800-8744400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:8741800-8744800	Enhancers	NHDF-Ad	bronchial
46	chr11:8742000-8746400	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:8742200-8744800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:8742200-8745000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:8742200-8746000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:8742200-8746800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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