Variant report

Variant	rs7114771
Chromosome Location	chr11:93239907-93239908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93239199..93241218-chr11:93245473..93247114,2	K562	blood:
2	chr11:93239503..93241482-chr11:93273372..93276296,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10831050	0.92[CEU][hapmap];0.82[LWK][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10831053	1.00[ASW][hapmap];0.97[GIH][hapmap];0.90[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11020381	0.95[EUR][1000 genomes]
rs11020389	0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020403	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11820614	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.83[CEU][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.81[EUR][1000 genomes]
rs2045461	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045462	1.00[ASW][hapmap];0.87[CEU][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	0.85[ASW][hapmap];0.97[GIH][hapmap];0.88[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2605591	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	0.83[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605598	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	0.83[CEU][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658800	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495856	0.82[AFR][1000 genomes]
rs6483246	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897556	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv522568	chr11:93231137-93239907	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv516461	chr11:93231476-93240847	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7114771	C11orf75	Cis_1M	lymphoblastoid	RTeQTL
rs7114771	CNNM3	trans	cerebellum	SCAN
rs7114771	CHORDC1	cis	parietal	SCAN
rs7114771	C11orf75	cis	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
3	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
4	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:93223000-93242800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:93225400-93242800	Weak transcription	GM12878-XiMat	blood
7	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:93227000-93243800	Weak transcription	Lung	lung
10	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:93228200-93243400	Weak transcription	Right Ventricle	heart
12	chr11:93228200-93248200	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:93232200-93243200	Weak transcription	Spleen	Spleen
14	chr11:93232400-93245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:93232800-93243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:93232800-93245800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:93232800-93248800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:93233000-93248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:93233000-93248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:93233200-93241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:93233400-93248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:93234000-93242600	Enhancers	Liver	Liver
24	chr11:93234200-93240800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:93234400-93243400	Weak transcription	Left Ventricle	heart
26	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:93235200-93240200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
29	chr11:93235400-93243400	Weak transcription	Pancreas	Pancrea
30	chr11:93235400-93257800	Weak transcription	Gastric	stomach
31	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
32	chr11:93235800-93240600	Weak transcription	HepG2	liver
33	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:93236200-93243400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:93237000-93241400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:93237000-93242600	Weak transcription	Dnd41	blood
37	chr11:93237000-93248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:93238200-93241200	Weak transcription	Fetal Intestine Large	intestine
39	chr11:93238200-93242000	Weak transcription	Fetal Stomach	stomach
40	chr11:93238400-93242800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:93238400-93248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
43	chr11:93238600-93240600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:93238600-93248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:93239400-93245800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:93239600-93241600	Weak transcription	Fetal Brain Male	brain
47	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:93239800-93240400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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