Variant report

Variant	rs2283249
Chromosome Location	chr11:17824372-17824373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:
2	chr11:17823576..17826889-chr11:17829759..17833137,3	MCF-7	breast:
3	chr11:17820545..17822051-chr11:17823456..17825530,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1005008	0.81[ASN][1000 genomes]
rs11024415	0.81[CHB][hapmap]
rs11821847	0.81[CHB][hapmap]
rs1548528	0.90[CHB][hapmap]
rs2107427	0.81[CHB][hapmap]
rs2158395	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2237943	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs2237944	0.90[CHB][hapmap]
rs2237946	0.90[CHB][hapmap]
rs2237948	0.90[CHB][hapmap]
rs2283248	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299630	0.98[ASN][1000 genomes]
rs2299632	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs2299633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4757590	0.98[ASN][1000 genomes]
rs4757591	0.81[CHB][hapmap]
rs6486398	0.80[CHB][hapmap]
rs7115183	0.81[CHB][hapmap]
rs718439	0.90[CHB][hapmap]
rs765989	0.90[CHB][hapmap]
rs7929668	0.81[CHB][hapmap]
rs7932686	0.90[CHB][hapmap]
rs7935967	0.81[CHB][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv526501	chr11:17816412-17824372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283249	SOX6	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
2	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
4	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
7	chr11:17808800-17828600	Weak transcription	Fetal Brain Female	brain
8	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
9	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:17809200-17824800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:17810400-17829400	Weak transcription	Fetal Intestine Small	intestine
12	chr11:17811000-17830800	Weak transcription	Primary T cells from cord blood	blood
13	chr11:17815600-17841400	Weak transcription	HepG2	liver
14	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:17820600-17825200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:17820600-17825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:17820800-17832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:17821200-17826800	Weak transcription	Right Atrium	heart
19	chr11:17821200-17828200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:17821200-17831800	Weak transcription	Esophagus	oesophagus
21	chr11:17822400-17826600	Weak transcription	Left Ventricle	heart
22	chr11:17822400-17826800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:17822400-17827000	Weak transcription	Psoas Muscle	Psoas
24	chr11:17822400-17827000	Weak transcription	Right Ventricle	heart
25	chr11:17823000-17824400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:17823200-17825600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17823400-17824600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:17823400-17824600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:17823400-17825000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:17823400-17825200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:17823600-17825400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:17823600-17826000	Enhancers	HSMMtube	muscle
33	chr11:17823800-17827000	Weak transcription	Fetal Heart	heart
34	chr11:17824200-17824600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:17824200-17825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:17824200-17828200	Weak transcription	Fetal Muscle Leg	muscle

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