Variant report

Variant	rs2512377
Chromosome Location	chr11:86752002-86752003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:
2	chr11:86749278..86752197-chr11:86764776..86767404,2	K562	blood:
3	chr11:86658501..86661245-chr11:86750837..86752641,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1031584	0.91[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234939	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234951	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12280110	0.81[CHB][hapmap]
rs1378878	0.83[AMR][1000 genomes]
rs1531145	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545600	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2001411	0.82[CHB][hapmap]
rs2048973	0.82[CHB][hapmap]
rs2124581	0.83[JPT][hapmap]
rs2130154	0.83[JPT][hapmap]
rs2374995	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2445534	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445536	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445541	0.83[JPT][hapmap]
rs2445542	0.88[JPT][hapmap]
rs2445559	0.83[JPT][hapmap]
rs2445566	0.83[JPT][hapmap]
rs2445567	0.82[JPT][hapmap]
rs2445569	0.83[JPT][hapmap]
rs2445571	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445572	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445574	0.82[AMR][1000 genomes]
rs2445576	0.86[JPT][hapmap]
rs2451053	0.82[CHB][hapmap]
rs2512325	0.86[JPT][hapmap]
rs2512327	0.83[JPT][hapmap]
rs2512344	0.82[CHB][hapmap]
rs2512350	0.82[CHB][hapmap]
rs2512352	0.83[JPT][hapmap]
rs2512353	0.83[JPT][hapmap]
rs2512358	0.82[CHB][hapmap]
rs2512360	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512362	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512374	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512375	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512376	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512378	0.82[AMR][1000 genomes]
rs2512380	0.83[JPT][hapmap]
rs2512381	0.83[JPT][hapmap]
rs2512382	0.83[JPT][hapmap]
rs2512385	0.82[JPT][hapmap]
rs2512386	0.83[JPT][hapmap]
rs2512390	0.83[JPT][hapmap]
rs2512398	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512485	0.82[CHB][hapmap]
rs2512488	0.83[JPT][hapmap]
rs2512490	0.82[CHB][hapmap]
rs2512501	0.83[JPT][hapmap]
rs2512503	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513207	0.83[JPT][hapmap]
rs2513211	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513226	0.83[JPT][hapmap]
rs2513228	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2513232	0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs2513235	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513237	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513238	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100849	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100851	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133315	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514445	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs482339	0.81[CHB][hapmap]
rs483373	0.82[CHB][hapmap]
rs491895	0.82[CHB][hapmap]
rs492211	0.81[CHB][hapmap]
rs4943971	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs4944661	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs494698	0.82[CHB][hapmap]
rs495668	0.82[CHB][hapmap]
rs496671	0.82[CHB][hapmap]
rs502580	0.82[CHB][hapmap]
rs5028348	0.80[CHB][hapmap]
rs520755	0.81[CHB][hapmap]
rs538494	0.83[CHB][hapmap]
rs541998	0.82[CHB][hapmap]
rs546229	0.82[CHB][hapmap]
rs547867	0.82[CHB][hapmap]
rs549932	0.81[CHB][hapmap]
rs550988	0.82[CHB][hapmap]
rs552521	0.82[CHB][hapmap]
rs556139	0.82[CHB][hapmap]
rs564877	0.86[CHB][hapmap]
rs566046	0.82[CHB][hapmap]
rs576582	0.81[CHB][hapmap]
rs576679	0.82[CHB][hapmap]
rs580120	0.82[CHB][hapmap]
rs583334	0.81[CHB][hapmap]
rs597319	0.81[CHB][hapmap]
rs597344	0.82[CHB][hapmap]
rs597406	0.82[CHB][hapmap]
rs603140	0.82[CHB][hapmap]
rs604035	0.82[CHB][hapmap]
rs606284	0.81[CHB][hapmap]
rs606299	0.82[CHB][hapmap]
rs608870	0.81[CHB][hapmap]
rs610228	0.81[CHB][hapmap]
rs611523	0.82[CHB][hapmap]
rs618926	0.81[CHB][hapmap]
rs625554	0.82[CHB][hapmap]
rs628447	0.82[CHB][hapmap]
rs634277	0.82[CHB][hapmap]
rs655050	0.82[CHB][hapmap]
rs655907	0.82[CHB][hapmap]
rs660246	0.82[CHB][hapmap]
rs664398	0.81[CHB][hapmap]
rs687244	0.82[CHB][hapmap]
rs687651	0.82[CHB][hapmap]
rs692857	0.81[CHB][hapmap]
rs717722	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717723	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7949665	0.82[CHB][hapmap]
rs921872	0.81[EUR][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2512377	C11orf82	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86749400-86752200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:86750000-86752600	Enhancers	Brain Angular Gyrus	brain
7	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
8	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
9	chr11:86750200-86752200	Enhancers	Fetal Brain Male	brain
10	chr11:86750400-86752200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:86750400-86752200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:86750400-86753000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:86750400-86753200	Enhancers	Brain Substantia Nigra	brain
14	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
15	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:86750600-86752600	Enhancers	Liver	Liver
17	chr11:86750600-86752800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:86750600-86753200	Weak transcription	Small Intestine	intestine
19	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
23	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:86750600-86757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:86750600-86757800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:86750600-86757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:86750600-86757800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:86750600-86759800	Weak transcription	Fetal Thymus	thymus
29	chr11:86750600-86760600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:86750800-86752200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:86750800-86752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:86750800-86754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:86750800-86754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:86750800-86755000	Weak transcription	NHEK	skin
35	chr11:86750800-86757200	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:86750800-86757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:86750800-86758600	Weak transcription	HSMM	muscle
38	chr11:86750800-86759800	Weak transcription	HSMMtube	muscle
39	chr11:86750800-86760000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:86750800-86760200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:86750800-86787400	Weak transcription	A549	lung
44	chr11:86751000-86752200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:86751000-86752200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr11:86751000-86752400	Weak transcription	GM12878-XiMat	blood
47	chr11:86751000-86753000	Enhancers	Colon Smooth Muscle	Colon
48	chr11:86751000-86754400	Weak transcription	Brain Germinal Matrix	brain
49	chr11:86751000-86754800	Weak transcription	Primary T cells from cord blood	blood
50	chr11:86751000-86755000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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