Variant report

Variant	rs540785631
Chromosome Location	chr13:111320758-111320759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111319875..111322001-chr13:111366343..111369154,2	MCF-7	breast:
2	chr13:111320304..111323011-chr13:111365996..111367898,2	K562	blood:
3	chr13:111314783..111317177-chr13:111319064..111320921,2	K562	blood:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
10	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription 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 target site	240 gene(s)	inside rSNPs	diseases
11	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
14	esv1819597	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1824622	chr13:111319754-111343888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
2	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
3	chr13:111301200-111322800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:111301600-111322800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:111301600-111324400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:111302000-111322800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
8	chr13:111303400-111327800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:111307600-111322800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:111308000-111322800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:111309600-111321800	Strong transcription	Osteobl	bone
12	chr13:111309800-111322400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:111310400-111321800	Strong transcription	NHEK	skin
14	chr13:111310600-111322800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:111311400-111320800	Strong transcription	Liver	Liver
17	chr13:111311400-111321800	Strong transcription	HSMM	muscle
18	chr13:111311400-111322000	Strong transcription	NHDF-Ad	bronchial
19	chr13:111311400-111322200	Strong transcription	Ovary	ovary
20	chr13:111311400-111322400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr13:111311400-111322600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr13:111311600-111321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr13:111311600-111321400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:111311600-111322600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:111311800-111324200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr13:111312000-111322400	Strong transcription	Adipose Nuclei	Adipose
28	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr13:111313000-111323000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr13:111313200-111322800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr13:111313400-111321800	Strong transcription	HMEC	breast
32	chr13:111313400-111322400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:111313400-111322400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:111313400-111322800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:111313400-111323400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:111313600-111321800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:111313800-111321800	Strong transcription	Hela-S3	cervix
38	chr13:111313800-111322600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:111313800-111322800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:111314000-111321000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:111314000-111322200	Strong transcription	Fetal Muscle Leg	muscle
42	chr13:111314000-111322600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:111314000-111322800	Strong transcription	Left Ventricle	heart
44	chr13:111314200-111321800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:111314200-111322800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:111314400-111321000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:111314400-111321400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:111314400-111321400	Strong transcription	Fetal Lung	lung
49	chr13:111314400-111321800	Strong transcription	GM12878-XiMat	blood
50	chr13:111314400-111322000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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