Variant report

Variant	rs531198522
Chromosome Location	chr18:44496492-44496493
allele	A/G
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	MYC	chr18:44496449-44498053	MCF10A-Er-Src	breast:	n/a	chr18:44497801-44497808
2	ZNF143	chr18:44496416-44496907	K562	blood:	n/a	n/a
3	POLR2A	chr18:44496011-44498385	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr18:44496466-44498165	H1-neurons	neurons:	n/a	chr18:44497598-44497611
5	ESRRA	chr18:44496008-44498524	GM12878	blood:	n/a	chr18:44497994-44498007 chr18:44497979-44497989 chr18:44497978-44497991 chr18:44497994-44498006 chr18:44496466-44496482 chr18:44497996-44498006 chr18:44497979-44497989 chr18:44497987-44498005
6	ZNF384	chr18:44496309-44496695	K562	blood:	n/a	chr18:44496495-44496503
7	ZNF263	chr18:44496118-44498044	HEK293-T-REx	kidney:	n/a	chr18:44497735-44497744
8	CHD1	chr18:44496255-44496935	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr18:44495937-44498420	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:44494535..44496872-chr18:44526864..44529810,3	MCF-7	breast:
2	chr18:44422888..44425442-chr18:44495658..44497517,2	K562	blood:
3	chr14:51900262..51903156-chr18:44496356..44498175,2	MCF-7	breast:

Variant related genes	Relation type
KATNAL2	TF binding region
ENSG00000258893	Chromatin interaction
ENSG00000078043	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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3360133	chr18:44496254-44498652	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44492200-44496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:44494000-44496600	Weak transcription	Gastric	stomach
3	chr18:44494000-44496600	Weak transcription	Pancreas	Pancrea
4	chr18:44495200-44496600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr18:44495200-44496600	Flanking Active TSS	Dnd41	blood
6	chr18:44495400-44496600	Enhancers	Primary B cells from peripheral blood	blood
7	chr18:44495400-44496600	Flanking Active TSS	Hela-S3	cervix
8	chr18:44495400-44498200	Active TSS	NHLF	lung
9	chr18:44495400-44498400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr18:44495600-44496600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr18:44495600-44496600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr18:44495600-44498200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr18:44495600-44498200	Active TSS	K562	blood
14	chr18:44495600-44498400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:44495600-44498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr18:44495800-44496600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:44495800-44496600	Flanking Active TSS	Fetal Kidney	kidney
18	chr18:44495800-44496800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:44495800-44496800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr18:44495800-44497000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr18:44495800-44497000	Flanking Active TSS	Thymus	Thymus
24	chr18:44495800-44497800	Active TSS	HepG2	liver
25	chr18:44495800-44498000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:44495800-44498000	Active TSS	Osteobl	bone
27	chr18:44495800-44498800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr18:44495800-44498800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr18:44496000-44496600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:44496000-44496600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:44496000-44496600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr18:44496000-44496600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr18:44496000-44496800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr18:44496000-44496800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr18:44496000-44496800	Flanking Active TSS	HUVEC	blood vessel
36	chr18:44496000-44496800	Flanking Active TSS	NH-A	brain
37	chr18:44496000-44497000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr18:44496000-44497000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:44496000-44497000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr18:44496000-44497000	Flanking Active TSS	Liver	Liver
41	chr18:44496000-44497000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr18:44496000-44497600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:44496000-44497800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:44496000-44497800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:44496000-44498000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr18:44496000-44498000	Active TSS	Psoas Muscle	Psoas
47	chr18:44496000-44498200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:44496000-44498200	Active TSS	Fetal Intestine Small	intestine
49	chr18:44496000-44498200	Active TSS	Right Atrium	heart
50	chr18:44496000-44498200	Active TSS	Right Ventricle	heart

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