Variant report

Variant	rs17629235
Chromosome Location	chr11:73966348-73966349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:73966330-73968175	SK-N-SH	brain:	n/a	chr11:73967006-73967020 chr11:73966439-73966449
2	POLR2A	chr11:73965763-73966635	K562	blood:	n/a	n/a
3	CTCF	chr11:73966340-73966490	GM12866	blood:	n/a	n/a
4	POLR2A	chr11:73965993-73967811	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:73963369-73969941	A549	lung:	n/a	n/a
6	POLR2A	chr11:73966256-73966420	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:73965314-73967998	K562	blood:	n/a	n/a
8	CTCF	chr11:73966320-73966470	SAEC	small airway:	n/a	n/a
9	CTCF	chr11:73966323-73968092	A549	lung:	n/a	chr11:73967006-73967027 chr11:73967004-73967022 chr11:73967007-73967020
10	CTCF	chr11:73966200-73966350	GM12872	blood:	n/a	n/a
11	CTCF	chr11:73966300-73966450	GM12868	blood:	n/a	n/a
12	POLR2A	chr11:73965936-73967434	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73679988..73682781-chr11:73965543..73968293,2	MCF-7	breast:
2	chr11:73694020..73696728-chr11:73965513..73968438,2	K562	blood:
3	chr11:73966201..73967800-chr11:74032250..74033563,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206913	TF binding region
ENSG00000255847	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs544356	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17629235	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs17629235	PGM2L1	cis	parietal	SCAN
rs17629235	MRPL48	cis	cerebellum	SCAN
rs17629235	CCDC27	trans	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
2	chr11:73936000-73968000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73936200-73966600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:73936400-73967000	Strong transcription	HSMM	muscle
5	chr11:73936400-73967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:73938800-73967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:73941000-73967600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:73941000-73967800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:73945600-73966800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73946600-73966600	Strong transcription	A549	lung
11	chr11:73950400-73966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:73952000-73966800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:73955000-73967600	Strong transcription	Fetal Thymus	thymus
14	chr11:73955800-73966600	Strong transcription	Placenta	Placenta
15	chr11:73955800-73968800	Weak transcription	Stomach Mucosa	stomach
16	chr11:73956000-73967200	Strong transcription	HepG2	liver
17	chr11:73956800-73966400	Strong transcription	Osteobl	bone
18	chr11:73956800-73966600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:73956800-73966600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:73956800-73966800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:73956800-73967800	Strong transcription	Adipose Nuclei	Adipose
22	chr11:73957000-73966400	Strong transcription	Primary T cells from cord blood	blood
23	chr11:73957000-73966400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:73957000-73966400	Strong transcription	Brain Germinal Matrix	brain
25	chr11:73957000-73966400	Strong transcription	Left Ventricle	heart
26	chr11:73957000-73966400	Strong transcription	Dnd41	blood
27	chr11:73957000-73966400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:73957000-73966600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:73957000-73966600	Strong transcription	Brain Anterior Caudate	brain
30	chr11:73957000-73966800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73957000-73966800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:73957000-73967400	Strong transcription	HSMMtube	muscle
33	chr11:73957000-73967800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:73957000-73967800	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:73957000-73967800	Strong transcription	Fetal Stomach	stomach
36	chr11:73957000-73968000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:73957000-73968200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:73957200-73966400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:73957200-73966600	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:73957200-73966600	Strong transcription	Lung	lung
41	chr11:73957200-73966600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:73957200-73966800	Strong transcription	Fetal Lung	lung
43	chr11:73957200-73967000	Strong transcription	Liver	Liver
44	chr11:73957200-73967600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:73957200-73967800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:73957400-73966400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:73957400-73966600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr11:73957400-73966600	Strong transcription	Fetal Brain Female	brain
49	chr11:73957400-73966800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:73957400-73967800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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