Variant report

Variant	rs3759801
Chromosome Location	chr15:82551777-82551778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:82550051..82552780-chr15:82552889..82555231,4	K562	blood:
2	chr15:82544226..82545855-chr15:82550615..82553251,2	K562	blood:
3	chr15:82546241..82548403-chr15:82550539..82552952,2	MCF-7	breast:
4	chr15:82337966..82340144-chr15:82550811..82553189,2	MCF-7	breast:
5	chr15:82550191..82552669-chr15:82553526..82555918,3	MCF-7	breast:
6	chr15:82540150..82542827-chr15:82551322..82553905,2	K562	blood:

Variant related genes	Relation type
ENSG00000188659	Chromatin interaction
ENSG00000140598	Chromatin interaction
ENSG00000183496	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12592193	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12594136	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12594303	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12902624	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34317593	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv570246	chr15:82485707-82581264	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1041506	chr15:82496164-82581427	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1798145	chr15:82506790-82581264	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv904441	chr15:82532963-82580736	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv904442	chr15:82540174-82571046	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1054025	chr15:82540486-83058214	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3759801	CIB2	cis	cerebellum	SCAN
rs3759801	FLJ22795///LOC727751	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr15:82503200-82552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:82503600-82553000	Weak transcription	Small Intestine	intestine
7	chr15:82503800-82553200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:82504200-82553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:82507400-82553000	Weak transcription	NH-A	brain
10	chr15:82508200-82553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:82510800-82554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:82511800-82554200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:82515800-82553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:82520000-82553000	Weak transcription	Gastric	stomach
15	chr15:82520000-82553000	Weak transcription	Right Ventricle	heart
16	chr15:82520000-82553400	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:82520000-82554200	Weak transcription	Pancreas	Pancrea
18	chr15:82520200-82553000	Weak transcription	Psoas Muscle	Psoas
19	chr15:82520200-82554400	Weak transcription	Esophagus	oesophagus
20	chr15:82523600-82553400	Weak transcription	Fetal Kidney	kidney
21	chr15:82524800-82552600	Weak transcription	K562	blood
22	chr15:82532000-82554000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:82532600-82552800	Weak transcription	Fetal Brain Female	brain
24	chr15:82532600-82553400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:82533000-82553000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:82533000-82553400	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:82533200-82552200	Weak transcription	Fetal Brain Male	brain
28	chr15:82533200-82553000	Weak transcription	NHLF	lung
29	chr15:82533200-82553200	Weak transcription	Brain Germinal Matrix	brain
30	chr15:82533200-82553200	Weak transcription	A549	lung
31	chr15:82533200-82553600	Weak transcription	Fetal Lung	lung
32	chr15:82533400-82553800	Weak transcription	Aorta	Aorta
33	chr15:82533400-82553800	Weak transcription	Brain Substantia Nigra	brain
34	chr15:82533400-82554000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:82533400-82554200	Weak transcription	Colonic Mucosa	Colon
36	chr15:82533800-82553400	Weak transcription	Thymus	Thymus
37	chr15:82533800-82554200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:82537000-82554200	Weak transcription	Ovary	ovary
39	chr15:82537400-82553000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:82538200-82554400	Weak transcription	Lung	lung
41	chr15:82540400-82553000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:82540400-82553400	Weak transcription	HSMMtube	muscle
43	chr15:82540600-82552800	Weak transcription	Primary T cells from cord blood	blood
44	chr15:82541000-82554400	Weak transcription	Spleen	Spleen
45	chr15:82543200-82551800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:82543200-82552600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:82543800-82552600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:82544800-82554000	Weak transcription	Brain Angular Gyrus	brain
49	chr15:82545000-82552800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:82545600-82553000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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