Variant report

Variant	rs17093605
Chromosome Location	chr11:102348315-102348316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102336534..102338773-chr11:102346466..102348987,2	MCF-7	breast:
2	chr11:102320074..102325014-chr11:102347034..102351660,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152558	Chromatin interaction
ENSG00000255482	Chromatin interaction
ENSG00000255337	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17881365	1.00[AMR][1000 genomes]
rs57626061	1.00[AMR][1000 genomes]
rs58860189	1.00[AMR][1000 genomes]
rs60403740	1.00[AMR][1000 genomes]
rs6590965	1.00[AMR][1000 genomes]
rs7111897	1.00[AMR][1000 genomes]
rs7121533	1.00[AMR][1000 genomes]
rs7125554	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926470	1.00[AMR][1000 genomes]
rs7926815	1.00[AMR][1000 genomes]
rs7933135	1.00[AMR][1000 genomes]
rs7940503	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17093605	CAPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102341000-102359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:102345000-102349200	Weak transcription	Colonic Mucosa	Colon
3	chr11:102345000-102351600	Weak transcription	Gastric	stomach
4	chr11:102346200-102348400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:102346400-102348800	Enhancers	Hela-S3	cervix
6	chr11:102346800-102348400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:102346800-102348400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:102346800-102350000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:102346800-102350400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:102346800-102350600	Enhancers	Primary T cells from cord blood	blood
11	chr11:102347000-102348400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:102347000-102348400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:102347000-102348400	Enhancers	HMEC	breast
14	chr11:102347000-102348600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr11:102347000-102348800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:102347000-102348800	Enhancers	Small Intestine	intestine
17	chr11:102347000-102348800	Enhancers	Thymus	Thymus
18	chr11:102347000-102350400	Enhancers	Fetal Intestine Small	intestine
19	chr11:102347000-102353000	Enhancers	Stomach Mucosa	stomach
20	chr11:102347400-102348400	Enhancers	Fetal Lung	lung
21	chr11:102347600-102348400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:102347600-102348400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:102347600-102350200	Enhancers	HepG2	liver
24	chr11:102347800-102348800	Weak transcription	Lung	lung
25	chr11:102347800-102349200	Weak transcription	Fetal Kidney	kidney
26	chr11:102347800-102349400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:102347800-102349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:102347800-102349400	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:102347800-102353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:102348000-102348800	Weak transcription	Brain Germinal Matrix	brain
31	chr11:102348000-102348800	Enhancers	K562	blood
32	chr11:102348000-102349200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:102348000-102349200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:102348000-102349600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:102348000-102353400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:102348200-102348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:102348200-102349200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:102348200-102349200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:102348200-102349200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:102348200-102349200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:102348200-102349200	Weak transcription	Fetal Intestine Large	intestine
42	chr11:102348200-102349200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:102348200-102349400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:102348200-102349400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:102348200-102349400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:102348200-102349400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:102348200-102349800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:102348200-102351400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:102348200-102351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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