Variant report

Variant	rs530144780
Chromosome Location	chr13:95245140-95245141
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	chr13:95213304..95215332-chr13:95243591..95245923,2	K562	blood:
2	chr13:95242784..95245986-chr13:95246161..95249973,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088451	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3521585	chr13:95244823-95249508	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
5	esv3497281	chr13:95244835-95249503	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
6	esv3497282	chr13:95244837-95249504	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a
7	esv3521596	chr13:95244837-95249504	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95219600-95245600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr13:95221400-95245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:95222000-95247200	Weak transcription	Fetal Brain Male	brain
4	chr13:95222200-95245200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr13:95223000-95245800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:95224200-95246400	Weak transcription	Fetal Heart	heart
7	chr13:95224200-95246400	Weak transcription	Stomach Mucosa	stomach
8	chr13:95225000-95247400	Weak transcription	Fetal Brain Female	brain
9	chr13:95226000-95245800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:95226200-95245400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:95226800-95246800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:95233000-95246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:95233200-95246600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:95233200-95247000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:95233400-95247600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:95234400-95246800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:95234400-95246800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr13:95234400-95247000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:95234600-95247200	Weak transcription	Lung	lung
20	chr13:95234800-95246400	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:95235000-95246800	Weak transcription	Spleen	Spleen
22	chr13:95235200-95246400	Weak transcription	Brain Anterior Caudate	brain
23	chr13:95235200-95246600	Weak transcription	Psoas Muscle	Psoas
24	chr13:95235200-95246800	Weak transcription	Right Ventricle	heart
25	chr13:95235200-95247000	Weak transcription	Ovary	ovary
26	chr13:95235200-95247400	Weak transcription	Gastric	stomach
27	chr13:95235400-95246400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:95235400-95246400	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:95235600-95246800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:95235600-95246800	Weak transcription	Pancreas	Pancrea
31	chr13:95235600-95247000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:95235600-95247400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:95235600-95247400	Weak transcription	Aorta	Aorta
34	chr13:95235600-95247400	Weak transcription	HSMMtube	muscle
35	chr13:95236600-95246400	Weak transcription	Brain Angular Gyrus	brain
36	chr13:95236600-95246600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:95237000-95246000	Weak transcription	A549	lung
38	chr13:95237000-95246400	Weak transcription	NHLF	lung
39	chr13:95237200-95245800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:95237600-95246600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:95237600-95246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:95237800-95246400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:95238000-95246800	Weak transcription	Left Ventricle	heart
44	chr13:95239200-95246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:95240200-95245400	Strong transcription	Fetal Intestine Large	intestine
46	chr13:95240400-95245400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:95240600-95245400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr13:95240800-95245200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr13:95240800-95246000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:95240800-95246400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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