Variant report

Variant	rs11843295
Chromosome Location	chr13:30383540-30383541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30382188..30384280-chr13:31038768..31041039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17073884	1.00[AMR][1000 genomes]
rs28412297	1.00[AMR][1000 genomes]
rs59191836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61497074	1.00[AMR][1000 genomes]
rs73446257	1.00[AMR][1000 genomes]
rs73446273	1.00[AMR][1000 genomes]
rs73446281	1.00[AMR][1000 genomes]
rs73446285	1.00[AMR][1000 genomes]
rs73448207	1.00[AMR][1000 genomes]
rs73448217	1.00[AMR][1000 genomes]
rs7993370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7997787	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30363800-30385000	Weak transcription	Left Ventricle	heart
2	chr13:30376200-30384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:30376400-30386000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr13:30376600-30383600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:30376600-30383800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:30376600-30383800	Weak transcription	Right Atrium	heart
7	chr13:30376600-30384000	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:30376600-30385200	Weak transcription	Lung	lung
9	chr13:30376600-30385600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:30377200-30383600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:30377400-30390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:30377600-30384400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:30377800-30384600	Weak transcription	Osteobl	bone
15	chr13:30378000-30391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr13:30378800-30384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:30380200-30383600	Weak transcription	Psoas Muscle	Psoas
18	chr13:30380600-30384600	Enhancers	Liver	Liver
19	chr13:30380600-30386800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30380800-30383600	Weak transcription	Brain Substantia Nigra	brain
21	chr13:30381000-30384200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr13:30381000-30384600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:30381000-30384600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:30381200-30385800	Enhancers	Brain Angular Gyrus	brain
25	chr13:30381400-30384200	Weak transcription	Brain Germinal Matrix	brain
26	chr13:30381400-30384400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr13:30381400-30385600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:30381400-30386600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:30381400-30386800	Enhancers	Stomach Mucosa	stomach
30	chr13:30381600-30384200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:30381600-30384400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr13:30381600-30384800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:30381600-30390600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr13:30382600-30383600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:30382600-30388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:30382600-30388800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:30382600-30390800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr13:30382800-30385800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:30383200-30383600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:30383200-30383600	Enhancers	Fetal Intestine Large	intestine
41	chr13:30383200-30383800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr13:30383200-30383800	Enhancers	Right Ventricle	heart
43	chr13:30383200-30383800	Enhancers	HSMMtube	muscle
44	chr13:30383200-30384000	Enhancers	Primary T cells from cord blood	blood
45	chr13:30383200-30384000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr13:30383200-30384000	Enhancers	Pancreas	Pancrea
47	chr13:30383200-30384200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:30383200-30384200	Enhancers	Ovary	ovary
49	chr13:30383200-30385000	Enhancers	Adipose Nuclei	Adipose
50	chr13:30383200-30385600	Enhancers	Brain Cingulate Gyrus	brain

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