Variant report

Variant	rs2986402
Chromosome Location	chr11:34969626-34969627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34936782..34939692-chr11:34966895..34969731,2	K562	blood:
2	chr11:34938300..34939878-chr11:34967011..34969816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction
ENSG00000110435	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1036070	0.83[AMR][1000 genomes]
rs1117051	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1117445	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1326944	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1326945	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1326947	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359725	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1409716	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1409717	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1509662	0.84[AMR][1000 genomes]
rs1960524	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1991648	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2031686	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2033357	0.83[AMR][1000 genomes]
rs2033358	0.84[AMR][1000 genomes]
rs2033360	0.83[AMR][1000 genomes]
rs2082204	0.82[AMR][1000 genomes]
rs2116090	0.83[AMR][1000 genomes]
rs2147341	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2732556	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761823	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767037	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915189	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915191	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915197	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915198	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915201	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915202	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915203	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915208	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915214	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915217	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2915218	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2915225	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2915226	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2915230	0.84[AMR][1000 genomes]
rs2915231	0.83[AMR][1000 genomes]
rs2915232	0.84[AMR][1000 genomes]
rs2956077	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2956095	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2956097	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2956098	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2956101	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956109	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2956116	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956118	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956119	0.84[AMR][1000 genomes]
rs2956120	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956125	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2956126	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956128	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2985150	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2985382	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2985385	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2986403	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2986405	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2986406	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2986407	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2986408	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2986412	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2986413	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2986415	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2986417	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2986421	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3118498	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs496653	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs511776	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs520658	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs522436	0.91[ASN][1000 genomes]
rs568932	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724714	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs733567	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919554	0.84[AMR][1000 genomes]
rs984690	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2754010	chr11:34940724-35001024	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2986402	APIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
3	chr11:34940200-34970400	Weak transcription	Left Ventricle	heart
4	chr11:34940200-34984800	Weak transcription	Fetal Stomach	stomach
5	chr11:34948000-34990600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:34948000-35000400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:34948000-35006800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:34948200-34997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:34948600-34990400	Weak transcription	HUVEC	blood vessel
10	chr11:34949200-34990400	Weak transcription	NHEK	skin
11	chr11:34950400-34991600	Weak transcription	NHLF	lung
12	chr11:34951000-34970400	Weak transcription	Aorta	Aorta
13	chr11:34951000-34970400	Weak transcription	Ovary	ovary
14	chr11:34951000-34981400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:34951400-34986600	Weak transcription	Fetal Thymus	thymus
16	chr11:34951600-34992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:34951800-34970400	Weak transcription	Pancreas	Pancrea
18	chr11:34951800-34985000	Weak transcription	Lung	lung
19	chr11:34951800-34988200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:34951800-35000200	Weak transcription	Psoas Muscle	Psoas
21	chr11:34952200-35010800	Weak transcription	Small Intestine	intestine
22	chr11:34952400-34990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:34954600-34978800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:34954600-34986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:34954600-34987800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:34954600-34991200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:34954800-34988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:34955000-34988200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:34955400-34970400	Weak transcription	Liver	Liver
30	chr11:34955400-34985200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:34955400-34989000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:34955800-34979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:34955800-34981200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:34955800-34985000	Weak transcription	Placenta	Placenta
35	chr11:34956200-34980800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:34956400-34990600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:34958200-34978800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:34958200-34978800	Weak transcription	Hela-S3	cervix
39	chr11:34958200-34991600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:34958200-34995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:34959000-34979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:34960400-34986600	Weak transcription	K562	blood
44	chr11:34960600-34975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:34960600-34983200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:34960800-34981000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:34961400-34990400	Weak transcription	Osteobl	bone
48	chr11:34961800-34969800	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:34961800-34997200	Weak transcription	HSMMtube	muscle
50	chr11:34962000-35008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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