Variant report

Variant	rs2015782
Chromosome Location	chr11:75350013-75350014
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	MXI1	chr11:75348971-75351697	SK-N-SH	brain:	n/a	chr11:75351071-75351086
2	GATA3	chr11:75349821-75350221	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75349737..75352508-chr11:75363193..75364907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255280	TF binding region
ENSG00000254630	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1368135	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2511005	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs544997	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs570559	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs581522	0.81[EUR][1000 genomes]
rs584046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585433	0.86[JPT][hapmap]
rs588955	0.86[JPT][hapmap]
rs589063	0.86[JPT][hapmap]
rs599816	0.86[JPT][hapmap]
rs601142	0.90[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs601293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs609131	0.81[CEU][hapmap];0.93[CHB][hapmap]
rs611221	0.90[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs617449	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs61897968	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs629176	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs636418	0.87[JPT][hapmap]
rs642002	0.87[CEU][hapmap];0.94[CHB][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes]
rs644388	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs648930	0.90[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs652524	0.94[CHB][hapmap]
rs664133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678874	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs683195	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs684644	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75330000-75350800	Weak transcription	Lung	lung
2	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
3	chr11:75339000-75350400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:75340000-75352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:75345200-75350800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:75345600-75350800	Weak transcription	Left Ventricle	heart
7	chr11:75346400-75350800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:75346600-75350800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:75346600-75351600	Enhancers	Brain Germinal Matrix	brain
10	chr11:75346800-75350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:75346800-75350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:75346800-75350800	Weak transcription	GM12878-XiMat	blood
13	chr11:75346800-75350800	Weak transcription	NH-A	brain
14	chr11:75346800-75351200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:75347000-75350200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:75347000-75350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:75347000-75350600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:75347000-75350600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:75347000-75350600	Enhancers	Fetal Brain Female	brain
20	chr11:75347000-75350600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:75347000-75350800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:75347000-75350800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:75347000-75350800	Weak transcription	Right Atrium	heart
24	chr11:75347000-75350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:75347200-75350400	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:75347200-75350600	Weak transcription	Fetal Kidney	kidney
27	chr11:75347200-75350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:75347200-75350800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:75347200-75350800	Weak transcription	Ovary	ovary
30	chr11:75347200-75350800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:75347200-75351000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:75347400-75350400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:75347400-75350400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:75347400-75350400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:75347400-75350800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:75347400-75350800	Weak transcription	Fetal Intestine Large	intestine
37	chr11:75347400-75350800	Weak transcription	Small Intestine	intestine
38	chr11:75347800-75350400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:75347800-75350600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:75348000-75350400	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:75348000-75350800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:75348000-75351000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:75348200-75350400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:75348800-75351600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:75349000-75350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:75349000-75350400	Weak transcription	HSMM	muscle
47	chr11:75349000-75350600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:75349200-75350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:75349200-75351600	Enhancers	Fetal Heart	heart
50	chr11:75349400-75351600	Enhancers	Fetal Lung	lung

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