Variant report

Variant	rs4910051
Chromosome Location	chr11:9419206-9419207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9417229..9422139-chr11:9482004..9484870,5	K562	blood:
2	chr11:9418157..9420498-chr11:9423191..9424773,2	MCF-7	breast:
3	chr11:9417229..9420091-chr11:9482004..9484037,2	K562	blood:
4	chr11:9387912..9390461-chr11:9419141..9421304,2	K562	blood:
5	chr11:9419108..9421359-chr11:9425279..9427169,2	MCF-7	breast:
6	chr11:9334119..9338283-chr11:9409615..9419892,10	K562	blood:

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10770026	0.99[ASN][1000 genomes]
rs10770027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs10770028	0.82[AMR][1000 genomes]
rs10840227	0.86[ASN][1000 genomes]
rs10840228	0.83[MEX][hapmap]
rs10840229	0.99[ASN][1000 genomes]
rs10840230	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840233	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042328	0.82[AMR][1000 genomes]
rs11042330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042338	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042343	0.91[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042348	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042349	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11608024	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225755	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12418581	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12790938	0.98[ASN][1000 genomes]
rs12797567	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12800802	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12801513	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804650	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34177710	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41369549	0.82[GIH][hapmap]
rs4810	0.82[GIH][hapmap]
rs4910465	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104568	0.82[ASW][hapmap];0.82[GIH][hapmap]
rs7115477	1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7128033	0.99[ASN][1000 genomes]
rs7480253	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7480643	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4910051	IPO7	Cis_1M	lymphoblastoid	RTeQTL
rs4910051	TEAD1	cis	cerebellum	SCAN
rs4910051	EIF4G2	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407200-9425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9407200-9427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9407200-9430400	Weak transcription	Spleen	Spleen
4	chr11:9407200-9430600	Weak transcription	Esophagus	oesophagus
5	chr11:9407200-9430600	Weak transcription	Pancreas	Pancrea
6	chr11:9407200-9430800	Weak transcription	Gastric	stomach
7	chr11:9407400-9427000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9407400-9427000	Weak transcription	Left Ventricle	heart
9	chr11:9407600-9431400	Weak transcription	HSMMtube	muscle
10	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
11	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:9407800-9425400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:9407800-9427000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9408000-9419800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:9408000-9424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:9408200-9419600	Weak transcription	Primary B cells from cord blood	blood
17	chr11:9408200-9431000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:9408400-9428400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:9408600-9419400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:9408800-9426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:9408800-9427000	Weak transcription	Fetal Brain Female	brain
22	chr11:9408800-9431200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:9409000-9419400	Weak transcription	Adipose Nuclei	Adipose
24	chr11:9409000-9419400	Weak transcription	NHDF-Ad	bronchial
25	chr11:9409000-9421000	Weak transcription	NHLF	lung
26	chr11:9409000-9422800	Weak transcription	HUVEC	blood vessel
27	chr11:9409000-9424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:9409000-9424800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:9409000-9427000	Weak transcription	Liver	Liver
30	chr11:9409000-9427200	Weak transcription	HMEC	breast
31	chr11:9409200-9419400	Weak transcription	Brain Angular Gyrus	brain
32	chr11:9409200-9425600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:9409200-9427000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:9409200-9427200	Weak transcription	Psoas Muscle	Psoas
35	chr11:9410400-9425600	Weak transcription	Lung	lung
36	chr11:9411200-9421200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:9411200-9424800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:9413400-9420000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:9414000-9425800	Weak transcription	Fetal Intestine Large	intestine
40	chr11:9414200-9419400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:9414400-9419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:9414400-9424800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:9414400-9425800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:9414600-9419400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:9414800-9420000	Weak transcription	Aorta	Aorta
46	chr11:9414800-9421200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:9414800-9425800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:9414800-9426200	Weak transcription	Thymus	Thymus
49	chr11:9415000-9419600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:9415000-9421000	Weak transcription	HepG2	liver

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