Variant report

Variant	rs533749491
Chromosome Location	chr18:13059140-13059141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:13058676-13059443	K562	blood:	n/a	n/a

Variant related genes	Relation type
CEP192	TF binding region

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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv437176	chr18:13058494-13068132	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 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	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:13043200-13077800	Strong transcription	Dnd41	blood
5	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
6	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr18:13046000-13060600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:13046000-13062200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:13046000-13062200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:13046000-13062200	Strong transcription	Thymus	Thymus
14	chr18:13046000-13062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:13046000-13062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:13046000-13062400	Strong transcription	Fetal Intestine Large	intestine
17	chr18:13046000-13062400	Strong transcription	Fetal Muscle Leg	muscle
18	chr18:13046000-13062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:13046000-13063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:13046800-13062400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:13047200-13062200	Strong transcription	Liver	Liver
25	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:13048600-13060600	Strong transcription	Hela-S3	cervix
27	chr18:13048600-13062000	Strong transcription	NHDF-Ad	bronchial
28	chr18:13048600-13062200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:13049000-13070400	Weak transcription	Psoas Muscle	Psoas
30	chr18:13049600-13061600	Strong transcription	Fetal Stomach	stomach
31	chr18:13049800-13062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:13049800-13068000	Weak transcription	Small Intestine	intestine
33	chr18:13050600-13062600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:13050800-13060400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:13050800-13061400	Strong transcription	Fetal Intestine Small	intestine
36	chr18:13050800-13062400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:13050800-13064800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:13050800-13070800	Weak transcription	Right Atrium	heart
39	chr18:13051200-13062400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr18:13051600-13063200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr18:13051800-13060800	Strong transcription	HepG2	liver
42	chr18:13051800-13062600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr18:13051800-13063200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr18:13052000-13064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr18:13052200-13059400	Strong transcription	Pancreas	Pancrea
46	chr18:13052200-13062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:13052200-13062200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr18:13052200-13062400	Strong transcription	Primary T cells from cord blood	blood
49	chr18:13052200-13062400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr18:13052200-13062400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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