Variant report

Variant	rs548790084
Chromosome Location	chr13:30168742-30168743
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30093611..30096522-chr13:30167989..30170777,2	MCF-7	breast:
2	chr12:49525036..49525582-chr13:30168706..30169410,2	Hela-S3	cervix:
3	chr13:30168290..30169281-chr3:119814085..119814597,2	Hela-S3	cervix:
4	chr13:30086955..30089041-chr13:30166781..30169428,2	MCF-7	breast:
5	chr13:30091097..30092804-chr13:30167943..30169459,2	K562	blood:
6	chr13:30168293..30169921-chr13:31039031..31041940,2	K562	blood:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000139514	Chromatin interaction
ENSG00000258017	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420380	chr13:30168177-30170725	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3359253	chr13:30168577-30171125	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30166800-30169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:30167600-30168800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:30167600-30168800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30167600-30170200	Active TSS	GM12878-XiMat	blood
7	chr13:30167600-30170400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr13:30167600-30170400	Active TSS	A549	lung
9	chr13:30167600-30170400	Active TSS	Hela-S3	cervix
10	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:30167800-30169000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:30167800-30169000	Flanking Active TSS	HUVEC	blood vessel
13	chr13:30167800-30170400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr13:30168000-30168800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:30168000-30169000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr13:30168000-30169200	Enhancers	Fetal Brain Male	brain
18	chr13:30168000-30170000	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr13:30168000-30170000	Active TSS	HMEC	breast
20	chr13:30168000-30170200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:30168000-30170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr13:30168000-30170400	Active TSS	K562	blood
23	chr13:30168200-30168800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:30168200-30168800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:30168200-30168800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr13:30168200-30168800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr13:30168200-30168800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr13:30168200-30168800	Flanking Active TSS	Osteobl	bone
29	chr13:30168200-30169000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:30168200-30169000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr13:30168200-30169000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr13:30168200-30169200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:30168200-30170000	Active TSS	Stomach Smooth Muscle	stomach
34	chr13:30168200-30170200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:30168200-30170200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr13:30168200-30170400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr13:30168200-30170400	Active TSS	Right Ventricle	heart
38	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
41	chr13:30168400-30168800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:30168400-30168800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr13:30168400-30168800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr13:30168400-30168800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr13:30168400-30168800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:30168400-30168800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr13:30168400-30168800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr13:30168400-30168800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr13:30168400-30168800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr13:30168400-30168800	Flanking Active TSS	Fetal Thymus	thymus

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