Variant report

Variant	rs598241
Chromosome Location	chr11:64791585-64791586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64789149..64792056-chr11:64811719..64813864,2	MCF-7	breast:
2	chr11:64781382..64783563-chr11:64789288..64792111,2	MCF-7	breast:
3	chr11:64789605..64792041-chr11:64792422..64795659,3	K562	blood:
4	chr11:64789917..64792279-chr11:64818238..64820270,2	K562	blood:
5	chr11:64790610..64792828-chr11:64900512..64902311,2	K562	blood:

Variant related genes	Relation type
ENSG00000168060	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10897543	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11231929	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3862374	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs477539	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs484182	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs498636	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs532373	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs534236	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs559644	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs653111	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591869	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	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
rs598241	SNX15	cis	Muscle Skeletal	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	chr11:64783800-64794400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:64784000-64794400	Weak transcription	Primary B cells from cord blood	blood
16	chr11:64784000-64794400	Weak transcription	Fetal Brain Male	brain
17	chr11:64784200-64794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:64786400-64794200	Weak transcription	Osteobl	bone
19	chr11:64786400-64794400	Weak transcription	HSMM	muscle
20	chr11:64786600-64794400	Weak transcription	HMEC	breast
21	chr11:64786600-64794600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:64787000-64791800	Enhancers	HepG2	liver
23	chr11:64787600-64794400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:64787600-64794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:64787600-64794400	Weak transcription	Fetal Kidney	kidney
26	chr11:64787600-64794400	Weak transcription	GM12878-XiMat	blood
27	chr11:64787800-64794400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:64787800-64794400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:64788200-64794600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:64788800-64794200	Weak transcription	NHEK	skin
31	chr11:64788800-64794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:64788800-64794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:64789000-64793800	Weak transcription	Hela-S3	cervix
34	chr11:64789000-64794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:64789000-64794400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:64789200-64794200	Weak transcription	Esophagus	oesophagus
37	chr11:64789200-64794400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:64789200-64794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:64789400-64792000	Weak transcription	Colonic Mucosa	Colon
40	chr11:64789400-64794200	Weak transcription	NHLF	lung
41	chr11:64789400-64794400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:64789400-64794400	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:64789400-64794400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:64789600-64792200	Enhancers	K562	blood
45	chr11:64789600-64793800	Weak transcription	A549	lung
46	chr11:64789600-64794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64789600-64794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:64789600-64794400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:64789600-64794400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:64789600-64794400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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