Variant report

Variant	rs549721989
Chromosome Location	chr18:43692215-43692216
allele	A/C
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	chr18:43692089-43692362	K562	blood:	n/a	n/a

Variant related genes	Relation type
HAUS1	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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3380140	chr18:43690954-43694252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3323376	chr18:43691379-43693927	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3405529	chr18:43691504-43694052	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3354435	chr18:43691954-43693652	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43693800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:43685000-43694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:43685000-43694400	Weak transcription	Esophagus	oesophagus
4	chr18:43685000-43694400	Weak transcription	Left Ventricle	heart
5	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
6	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
7	chr18:43685200-43693800	Weak transcription	Aorta	Aorta
8	chr18:43685200-43696800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:43685200-43704200	Weak transcription	Psoas Muscle	Psoas
10	chr18:43685200-43704800	Weak transcription	Placenta	Placenta
11	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
12	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
14	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:43685400-43693200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:43685400-43693200	Weak transcription	Fetal Lung	lung
18	chr18:43685400-43693200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:43685400-43693400	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:43685400-43693400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr18:43685400-43693400	Weak transcription	HSMM	muscle
22	chr18:43685400-43693600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr18:43685400-43693600	Weak transcription	NH-A	brain
24	chr18:43685400-43693800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:43685400-43693800	Weak transcription	Adipose Nuclei	Adipose
26	chr18:43685400-43693800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:43685400-43693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr18:43685400-43693800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:43685400-43693800	Weak transcription	HSMMtube	muscle
30	chr18:43685400-43694200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:43685400-43694200	Weak transcription	NHLF	lung
32	chr18:43685400-43694400	Weak transcription	Lung	lung
33	chr18:43685400-43694400	Weak transcription	Ovary	ovary
34	chr18:43685400-43702200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:43685400-43702200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:43685400-43703600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:43685400-43704200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr18:43685400-43704800	Weak transcription	Brain Substantia Nigra	brain
39	chr18:43685400-43704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
43	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
47	chr18:43685400-43717200	Weak transcription	HepG2	liver
48	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
50	chr18:43685600-43694400	Weak transcription	Osteobl	bone

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