Variant report

Variant	rs4941651
Chromosome Location	chr13:50191376-50191377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50045650..50047733-chr13:50190939..50192914,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12583474	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12585829	0.95[ASN][1000 genomes]
rs1325658	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17073188	0.90[ASN][1000 genomes]
rs1830628	0.94[ASN][1000 genomes]
rs1985597	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7331327	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7982423	0.87[ASN][1000 genomes]
rs9743423	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
8	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4941651	RCBTB1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50181200-50192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:50181400-50194400	Weak transcription	Right Ventricle	heart
3	chr13:50184600-50193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50189200-50192800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:50189600-50191400	Enhancers	Fetal Muscle Leg	muscle
6	chr13:50189800-50192400	Enhancers	Fetal Lung	lung
7	chr13:50190000-50191600	Weak transcription	Lung	lung
8	chr13:50190000-50194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:50190200-50194400	Weak transcription	Left Ventricle	heart
10	chr13:50190200-50194400	Weak transcription	Spleen	Spleen
11	chr13:50190400-50194200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:50190400-50194400	Weak transcription	Brain Angular Gyrus	brain
13	chr13:50190400-50194400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:50190600-50194200	Weak transcription	Right Atrium	heart
15	chr13:50190600-50194400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:50190600-50195800	Weak transcription	Ovary	ovary
17	chr13:50190800-50191400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:50190800-50191400	Enhancers	HUVEC	blood vessel
19	chr13:50190800-50193600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:50190800-50194000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:50190800-50194400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50190800-50194400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:50190800-50194400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr13:50191000-50191400	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:50191000-50191400	Weak transcription	Fetal Thymus	thymus
26	chr13:50191000-50191800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:50191000-50192000	Weak transcription	Primary B cells from cord blood	blood
28	chr13:50191000-50192800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:50191000-50193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:50191000-50194400	Weak transcription	Brain Germinal Matrix	brain
31	chr13:50191200-50191600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:50191200-50191600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:50191200-50191600	Weak transcription	Fetal Heart	heart
34	chr13:50191200-50194200	Weak transcription	NHDF-Ad	bronchial
35	chr13:50191200-50194400	Weak transcription	Adipose Nuclei	Adipose
36	chr13:50191200-50199400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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