Variant report

Variant	rs544617158
Chromosome Location	chr13:30169533-30169534
allele	C/T
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	chr13:30168942..30169620-chr2:220094024..220094805,2	Hela-S3	cervix:
3	chr13:30169255..30170193-chr3:73159968..73160573,2	Hela-S3	cervix:
4	chr13:30168902..30170623-chr13:47369921..47372567,2	MCF-7	breast:
5	chr13:30069723..30071518-chr13:30169502..30172461,2	MCF-7	breast:
6	chr13:30168293..30169921-chr13:31039031..31041940,2	K562	blood:
7	chr13:30169260..30170181-chr14:23398301..23399025,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000257285	Chromatin interaction
ENSG00000139514	Chromatin interaction
ENSG00000189403	Chromatin interaction
ENSG00000163516	Chromatin interaction
ENSG00000132938	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000100462	Chromatin interaction
ENSG00000198925	Chromatin interaction
ENSG00000139684	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	esv3445424	chr13:30169002-30170950	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	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	chr13:30167400-30170400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr13:30167400-30170400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:30167600-30170200	Active TSS	GM12878-XiMat	blood
4	chr13:30167600-30170400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:30167600-30170400	Active TSS	A549	lung
6	chr13:30167600-30170400	Active TSS	Hela-S3	cervix
7	chr13:30167600-30170600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30167800-30170400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr13:30167800-30170600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:30168000-30170000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr13:30168000-30170000	Active TSS	HMEC	breast
12	chr13:30168000-30170200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:30168000-30170400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr13:30168000-30170400	Active TSS	K562	blood
15	chr13:30168200-30170000	Active TSS	Stomach Smooth Muscle	stomach
16	chr13:30168200-30170200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:30168200-30170200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr13:30168200-30170400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr13:30168200-30170400	Active TSS	Right Ventricle	heart
20	chr13:30168200-30170600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:30168200-30170600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr13:30168200-30170600	Active TSS	Fetal Brain Female	brain
23	chr13:30168400-30169600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:30168400-30170000	Active TSS	Fetal Muscle Trunk	muscle
25	chr13:30168400-30170000	Active TSS	HSMM	muscle
26	chr13:30168400-30170200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr13:30168400-30170200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:30168400-30170200	Active TSS	Brain Angular Gyrus	brain
29	chr13:30168400-30170200	Active TSS	Brain Cingulate Gyrus	brain
30	chr13:30168400-30170200	Active TSS	Fetal Kidney	kidney
31	chr13:30168400-30170200	Active TSS	Fetal Stomach	stomach
32	chr13:30168400-30170200	Active TSS	Gastric	stomach
33	chr13:30168400-30170200	Active TSS	Left Ventricle	heart
34	chr13:30168400-30170400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:30168400-30170400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:30168400-30170400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr13:30168400-30170400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:30168400-30170400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:30168400-30170400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:30168400-30170400	Active TSS	Aorta	Aorta
41	chr13:30168400-30170400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr13:30168400-30170400	Active TSS	Esophagus	oesophagus
43	chr13:30168400-30170400	Active TSS	Fetal Intestine Large	intestine
44	chr13:30168400-30170400	Active TSS	Pancreas	Pancrea
45	chr13:30168400-30170400	Active TSS	NHLF	lung
46	chr13:30168400-30170600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:30168400-30170600	Active TSS	Brain Anterior Caudate	brain
48	chr13:30168400-30170800	Active TSS	Colonic Mucosa	Colon
49	chr13:30168600-30169600	Active TSS	Stomach Mucosa	stomach
50	chr13:30168600-30169600	Transcr. at gene 5' and 3'	Dnd41	blood

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