Variant report

Variant	rs663767
Chromosome Location	chr11:64789077-64789078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64789015..64790595-chr11:64795015..64796992,2	MCF-7	breast:
2	chr11:64788989..64790749-chr11:64880205..64882338,2	K562	blood:
3	chr11:64787088..64789367-chr11:64807052..64810027,2	MCF-7	breast:
4	chr11:64787248..64789903-chr11:64884461..64886081,2	MCF-7	breast:
5	chr11:64788523..64790432-chr11:64793219..64795287,2	K562	blood:
6	chr11:64784437..64787294-chr11:64787817..64790913,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149809	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1196903	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs183578	0.89[JPT][hapmap]
rs240569	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs471772	0.81[ASN][1000 genomes]
rs495330	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs528941	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs551292	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs582378	0.81[ASN][1000 genomes]
rs582580	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs586616	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs596321	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs600868	0.81[ASN][1000 genomes]
rs602404	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs615709	0.85[CHB][hapmap]
rs650506	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs654772	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs660165	0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs664226	0.94[ASW][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs674981	0.88[CHB][hapmap];0.90[JPT][hapmap]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs663767	AP000436.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64782400-64794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64782600-64794200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:64782600-64794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64782600-64794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:64782600-64794400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:64782600-64794400	Weak transcription	Small Intestine	intestine
7	chr11:64782600-64794400	Weak transcription	HSMMtube	muscle
8	chr11:64782600-64794400	Weak transcription	HUVEC	blood vessel
9	chr11:64782600-64794400	Weak transcription	NH-A	brain
10	chr11:64782600-64794400	Weak transcription	NHDF-Ad	bronchial
11	chr11:64782600-64794600	Weak transcription	Right Atrium	heart
12	chr11:64783000-64794400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:64783000-64794400	Weak transcription	Stomach Mucosa	stomach
14	chr11:64783400-64790400	Strong transcription	Fetal Intestine Small	intestine
15	chr11:64783800-64794400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:64784000-64789800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:64784000-64790000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:64784000-64790000	Strong transcription	Thymus	Thymus
19	chr11:64784000-64790200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:64784000-64790200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:64784000-64794400	Weak transcription	Primary B cells from cord blood	blood
22	chr11:64784000-64794400	Weak transcription	Fetal Brain Male	brain
23	chr11:64784200-64789600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:64784200-64789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:64784200-64789800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:64784200-64790000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:64784200-64790800	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:64784200-64794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:64784400-64790000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:64784400-64790200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:64784600-64789800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:64784600-64789800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:64784600-64789800	Strong transcription	Dnd41	blood
34	chr11:64784600-64790000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:64784600-64790000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:64784600-64790400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:64784600-64790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:64784800-64789400	Strong transcription	Colonic Mucosa	Colon
39	chr11:64785000-64790200	Strong transcription	Brain Anterior Caudate	brain
40	chr11:64785000-64790200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:64785000-64790600	Strong transcription	Brain Germinal Matrix	brain
42	chr11:64785200-64789400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:64785200-64789400	Strong transcription	NHLF	lung
44	chr11:64785200-64789800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:64785200-64790000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:64785200-64790000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:64785200-64790000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:64785200-64790000	Strong transcription	Fetal Thymus	thymus
49	chr11:64785400-64789600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:64785400-64789600	Strong transcription	Placenta Amnion	Placenta Amnion

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