Variant report

Variant	rs35781320
Chromosome Location	chr11:9480700-9480701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9480308-9483702	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:9480568-9481166	K562	blood:	n/a	n/a
3	POLR2A	chr11:9480642-9483619	K562	blood:	n/a	n/a
4	POLR2A	chr11:9480568-9483216	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:9479861-9480786	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:9479740-9484253	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:9479650-9480839	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:9480446-9484317	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:9479623-9484236	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:9479551-9483940	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:9479688-9485037	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:9479394-9483807	K562	blood:	n/a	n/a
13	HEY1	chr11:9480617-9483714	K562	blood:	n/a	chr11:9483068-9483083 chr11:9482676-9482691 chr11:9483062-9483077 chr11:9482393-9482402 chr11:9482395-9482404
14	POLR2A	chr11:9479723-9483672	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:9479812-9484137	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:9480641-9482312	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:9479800-9484057	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:9480446-9484185	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:9480235-9483875	K562	blood:	n/a	n/a
20	POLR2A	chr11:9480396-9484132	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:9480693-9484362	GM12892	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
2	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:
3	chr11:9465547..9467985-chr11:9478686..9481606,2	MCF-7	breast:
4	chr11:9479094..9481371-chr11:9515349..9517388,2	K562	blood:
5	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
6	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
7	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
8	chr11:9479599..9481235-chr11:9491543..9494433,2	MCF-7	breast:
9	chr11:9451258..9454317-chr11:9478650..9481134,3	K562	blood:
10	chr11:9405101..9410331-chr11:9478772..9485340,14	K562	blood:
11	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
12	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
13	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
14	chr11:9479980..9482925-chr11:9627285..9628824,2	MCF-7	breast:
15	chr11:9478850..9481331-chr11:9519005..9520615,2	MCF-7	breast:
16	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:

No data

Variant related genes	Relation type
ZNF143	TF binding region
ENSG00000205339	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1020621	0.97[ASN][1000 genomes]
rs1020622	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743107	0.87[ASN][1000 genomes]
rs10770028	0.86[ASN][1000 genomes]
rs10770029	0.86[ASN][1000 genomes]
rs10770032	0.87[ASN][1000 genomes]
rs10770033	0.97[ASN][1000 genomes]
rs10770034	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840228	0.87[ASN][1000 genomes]
rs10840234	0.84[ASN][1000 genomes]
rs10840235	0.88[ASN][1000 genomes]
rs10840236	0.90[ASN][1000 genomes]
rs10840237	0.95[ASN][1000 genomes]
rs10840238	0.96[ASN][1000 genomes]
rs10840241	0.84[ASN][1000 genomes]
rs10840243	0.87[ASN][1000 genomes]
rs10840244	0.80[ASN][1000 genomes]
rs10840245	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840247	0.83[ASN][1000 genomes]
rs11042328	0.87[ASN][1000 genomes]
rs11042329	0.87[ASN][1000 genomes]
rs11042348	0.94[ASN][1000 genomes]
rs11042349	0.91[ASN][1000 genomes]
rs11042350	0.96[ASN][1000 genomes]
rs11042353	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042355	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042356	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042366	0.89[ASN][1000 genomes]
rs11042374	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042377	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042393	0.83[EUR][1000 genomes]
rs11042395	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11601316	0.81[EUR][1000 genomes]
rs11826606	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12225755	0.90[ASN][1000 genomes]
rs12271897	0.96[ASN][1000 genomes]
rs12282176	0.97[ASN][1000 genomes]
rs12296039	0.93[ASN][1000 genomes]
rs12792161	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12795344	0.86[ASN][1000 genomes]
rs12797567	0.94[ASN][1000 genomes]
rs12799672	0.84[ASN][1000 genomes]
rs12800802	0.96[ASN][1000 genomes]
rs12806418	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1377667	0.80[ASN][1000 genomes]
rs1470896	0.80[ASN][1000 genomes]
rs1543	0.80[ASN][1000 genomes]
rs1968717	0.85[ASN][1000 genomes]
rs2278900	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290423	0.92[ASN][1000 genomes]
rs2290424	0.81[EUR][1000 genomes]
rs2290425	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3763877	0.80[ASN][1000 genomes]
rs41369549	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4810	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910053	0.80[EUR][1000 genomes]
rs4910468	0.80[ASN][1000 genomes]
rs6486306	0.83[ASN][1000 genomes]
rs6486307	0.85[ASN][1000 genomes]
rs6486359	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486361	0.97[ASN][1000 genomes]
rs6486394	0.80[ASN][1000 genomes]
rs67548305	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7102473	0.85[ASN][1000 genomes]
rs7103931	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7104568	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7114824	0.89[ASN][1000 genomes]
rs7122252	0.96[ASN][1000 genomes]
rs7122499	0.87[ASN][1000 genomes]
rs723297	0.80[ASN][1000 genomes]
rs729313	0.83[ASN][1000 genomes]
rs7395411	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7483667	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7926589	0.80[ASN][1000 genomes]
rs7927350	0.84[ASN][1000 genomes]
rs7928823	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7928945	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932192	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933621	0.85[ASN][1000 genomes]
rs7938998	0.80[EUR][1000 genomes]
rs7944435	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7944578	0.90[ASN][1000 genomes]
rs7949973	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8785	0.97[ASN][1000 genomes]
rs9667574	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35781320	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9462200-9481000	Weak transcription	NHLF	lung
2	chr11:9463400-9481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:9463800-9481000	Weak transcription	NHDF-Ad	bronchial
4	chr11:9464800-9480800	Weak transcription	HSMMtube	muscle
5	chr11:9465000-9480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9465000-9480800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:9465000-9481000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:9465200-9481000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:9465200-9481200	Weak transcription	Ovary	ovary
10	chr11:9465400-9481000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:9465400-9481000	Weak transcription	K562	blood
12	chr11:9465800-9481000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:9466600-9480800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:9466800-9480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:9466800-9481000	Weak transcription	Fetal Lung	lung
16	chr11:9467000-9480800	Weak transcription	Lung	lung
17	chr11:9467400-9480800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:9468000-9481000	Weak transcription	Fetal Heart	heart
19	chr11:9468000-9481000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:9468000-9481000	Weak transcription	NH-A	brain
21	chr11:9468200-9481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:9470200-9480800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:9470200-9480800	Weak transcription	Left Ventricle	heart
24	chr11:9470200-9480800	Weak transcription	HSMM	muscle
25	chr11:9470200-9480800	Weak transcription	NHEK	skin
26	chr11:9470200-9481000	Weak transcription	A549	lung
27	chr11:9470200-9481000	Weak transcription	HUVEC	blood vessel
28	chr11:9470200-9481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:9470400-9480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:9470400-9480800	Weak transcription	HMEC	breast
31	chr11:9470400-9481000	Weak transcription	Osteobl	bone
32	chr11:9470600-9480800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:9470800-9480800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:9471000-9480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:9471000-9480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:9472000-9480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:9473200-9480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:9473600-9480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:9473800-9480800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:9474000-9480800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:9474000-9480800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:9474000-9480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:9474000-9481000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:9475200-9481200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:9475400-9481400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:9477000-9480800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:9478400-9480800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:9479800-9481000	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:9480000-9480800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:9480200-9480800	Weak transcription	HepG2	liver

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