Variant report

Variant	rs17593682
Chromosome Location	chr11:59377788-59377789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59332513..59335346-chr11:59377143..59379065,2	K562	blood:
2	chr11:59372664..59374288-chr11:59375717..59377939,2	MCF-7	breast:
3	chr11:59358338..59361390-chr11:59376004..59379219,3	K562	blood:
4	chr11:59322976..59324823-chr11:59375645..59377849,2	K562	blood:
5	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
6	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
7	chr11:59340962..59342782-chr11:59376375..59380389,3	K562	blood:

Variant related genes	Relation type
ENSG00000255008	Chromatin interaction
ENSG00000110048	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10501380	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11230019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230020	1.00[TSI][hapmap]
rs11230036	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230037	1.00[TSI][hapmap]
rs1151063	1.00[TSI][hapmap]
rs1151064	1.00[TSI][hapmap]
rs11821465	1.00[TSI][hapmap]
rs12271110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274820	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276505	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12278910	1.00[TSI][hapmap]
rs12287696	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289921	1.00[TSI][hapmap]
rs12290453	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12291415	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1287111	1.00[TSI][hapmap]
rs1287449	0.81[EUR][1000 genomes]
rs17153910	1.00[TSI][hapmap]
rs17154005	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154053	0.89[EUR][1000 genomes]
rs17154134	1.00[TSI][hapmap]
rs17154146	1.00[TSI][hapmap]
rs17154157	1.00[TSI][hapmap]
rs17154165	1.00[TSI][hapmap]
rs17154180	1.00[TSI][hapmap]
rs17154200	1.00[TSI][hapmap]
rs17508845	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509520	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17510841	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17511545	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17511686	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17592880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593836	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594827	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17596359	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1938690	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2085962	0.84[EUR][1000 genomes]
rs2508335	1.00[CEU][hapmap]
rs2509274	1.00[TSI][hapmap]
rs2509275	1.00[TSI][hapmap]
rs2509279	1.00[CEU][hapmap]
rs41384548	1.00[TSI][hapmap]
rs472177	1.00[TSI][hapmap]
rs473490	1.00[TSI][hapmap]
rs482355	1.00[TSI][hapmap]
rs482356	1.00[TSI][hapmap]
rs485803	1.00[CEU][hapmap]
rs488331	1.00[TSI][hapmap]
rs495564	1.00[TSI][hapmap]
rs498099	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs512194	1.00[TSI][hapmap]
rs513979	1.00[CEU][hapmap]
rs523016	1.00[TSI][hapmap]
rs524102	1.00[CEU][hapmap]
rs529270	1.00[TSI][hapmap]
rs533166	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs536544	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs540684	1.00[TSI][hapmap]
rs549086	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs552601	1.00[TSI][hapmap]
rs554848	1.00[TSI][hapmap]
rs57397608	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579373	1.00[TSI][hapmap]
rs6591540	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591541	1.00[TSI][hapmap]
rs7101580	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107183	1.00[ASN][1000 genomes]
rs7112355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7117509	0.83[AMR][1000 genomes]
rs7118051	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7119530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7130130	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924849	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929816	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947514	1.00[TSI][hapmap]
rs7948041	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948635	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952024	1.00[TSI][hapmap]
rs7952380	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8280	1.00[TSI][hapmap]
rs997788	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17593682	CABLES1	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59334200-59382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:59340800-59378200	Strong transcription	Fetal Thymus	thymus
3	chr11:59342000-59379000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:59342200-59378200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:59343600-59378400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:59343800-59382000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:59350200-59378200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:59352400-59378000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:59352600-59378200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:59352800-59378400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:59353200-59377800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:59353200-59378200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:59353200-59378400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:59353400-59378000	Strong transcription	Fetal Intestine Large	intestine
15	chr11:59353400-59378200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:59353400-59378200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:59353400-59378800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:59353600-59378200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:59353600-59378600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:59353800-59378200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:59353800-59378200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:59353800-59378400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:59353800-59379400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:59354200-59378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:59354400-59379400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:59354600-59379600	Strong transcription	Thymus	Thymus
27	chr11:59354800-59378200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:59354800-59378400	Strong transcription	Dnd41	blood
29	chr11:59355600-59378000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:59355800-59379800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:59357200-59378200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:59357400-59378200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:59357400-59379000	Strong transcription	GM12878-XiMat	blood
34	chr11:59357600-59378000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:59357600-59378200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:59357600-59378200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:59357600-59378200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:59357600-59378200	Strong transcription	HUVEC	blood vessel
39	chr11:59357600-59379200	Strong transcription	K562	blood
40	chr11:59357800-59380600	Strong transcription	Primary B cells from cord blood	blood
41	chr11:59358000-59378200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:59358400-59382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:59358800-59378400	Strong transcription	Osteobl	bone
44	chr11:59359200-59378200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:59359200-59378200	Strong transcription	Primary T cells from cord blood	blood
46	chr11:59359200-59378200	Strong transcription	Colonic Mucosa	Colon
47	chr11:59359200-59378600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:59360400-59378000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:59363400-59378200	Strong transcription	Fetal Brain Female	brain
50	chr11:59364000-59378000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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