Variant report

Variant	rs116425739
Chromosome Location	chr18:44496670-44496671
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	POLR2A	chr18:44496649-44498088	H1-neurons	neurons:	n/a	n/a
3	TBP	chr18:44496655-44496964	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr18:44496416-44496907	K562	blood:	n/a	n/a
5	POLR2A	chr18:44496635-44497845	IMR90	lung:	n/a	n/a
6	MAX	chr18:44496645-44498049	ECC-1	luminal epithelium:	n/a	chr18:44497801-44497808
7	POLR2A	chr18:44496011-44498385	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr18:44496466-44498165	H1-neurons	neurons:	n/a	chr18:44497598-44497611
9	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
10	POLR2A	chr18:44496504-44498237	PBDE	blood:	n/a	n/a
11	ZNF384	chr18:44496309-44496695	K562	blood:	n/a	chr18:44496495-44496503
12	POLR2A	chr18:44496659-44497056	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr18:44496611-44498625	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr18:44496660-44498028	GM12878	blood:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
15	RCOR1	chr18:44496652-44496881	K562	blood:	n/a	n/a
16	HCFC1	chr18:44496501-44498309	K562	blood:	n/a	n/a
17	TBP	chr18:44496545-44498270	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr18:44496668-44498303	K562	blood:	n/a	chr18:44497801-44497808
19	MAX	chr18:44496663-44496938	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:44496668-44498223	HL-60	blood:	n/a	n/a
21	MAX	chr18:44496670-44497970	HepG2	liver:	n/a	chr18:44497801-44497808
22	MAX	chr18:44496571-44498188	GM12878	blood:	n/a	chr18:44497801-44497808
23	POLR2A	chr18:44496527-44498200	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr18:44496659-44498252	HL-60	blood:	n/a	n/a
25	MAZ	chr18:44496626-44498356	K562	blood:	n/a	chr18:44497801-44497808
26	POLR2A	chr18:44496638-44498123	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr18:44496659-44497968	GM12878	blood:	n/a	n/a
28	BHLHE40	chr18:44496513-44498261	K562	blood:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
29	MAX	chr18:44496613-44497938	Hela-S3	cervix:	n/a	chr18:44497801-44497808
30	MAX	chr18:44496665-44498013	SK-N-SH	brain:	n/a	chr18:44497801-44497808
31	POLR2A	chr18:44496656-44498415	GM12891	blood:	n/a	n/a
32	ZNF263	chr18:44496118-44498044	HEK293-T-REx	kidney:	n/a	chr18:44497735-44497744
33	CHD1	chr18:44496255-44496935	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr18:44495937-44498420	SK-N-SH	brain:	n/a	n/a
35	MYC	chr18:44496621-44498416	K562	blood:	n/a	chr18:44497801-44497808

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:
4	chr18:44496509..44498962-chr18:44499238..44501525,3	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	chr18:44495400-44498200	Active TSS	NHLF	lung
3	chr18:44495400-44498400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr18:44495600-44498200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr18:44495600-44498200	Active TSS	K562	blood
6	chr18:44495600-44498400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr18:44495600-44498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr18:44495800-44496800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:44495800-44496800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr18:44495800-44497000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr18:44495800-44497000	Flanking Active TSS	Thymus	Thymus
14	chr18:44495800-44497800	Active TSS	HepG2	liver
15	chr18:44495800-44498000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:44495800-44498000	Active TSS	Osteobl	bone
17	chr18:44495800-44498800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr18:44495800-44498800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr18:44496000-44496800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr18:44496000-44496800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr18:44496000-44496800	Flanking Active TSS	HUVEC	blood vessel
22	chr18:44496000-44496800	Flanking Active TSS	NH-A	brain
23	chr18:44496000-44497000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr18:44496000-44497000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:44496000-44497000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr18:44496000-44497000	Flanking Active TSS	Liver	Liver
27	chr18:44496000-44497000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr18:44496000-44497600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:44496000-44497800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:44496000-44497800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:44496000-44498000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:44496000-44498000	Active TSS	Psoas Muscle	Psoas
33	chr18:44496000-44498200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:44496000-44498200	Active TSS	Fetal Intestine Small	intestine
35	chr18:44496000-44498200	Active TSS	Right Atrium	heart
36	chr18:44496000-44498200	Active TSS	Right Ventricle	heart
37	chr18:44496000-44498200	Active TSS	HMEC	breast
38	chr18:44496000-44498400	Active TSS	Fetal Muscle Trunk	muscle
39	chr18:44496000-44498400	Active TSS	NHDF-Ad	bronchial
40	chr18:44496000-44498600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr18:44496000-44498600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:44496000-44498600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:44496000-44498800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr18:44496200-44496800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr18:44496200-44496800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr18:44496200-44496800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr18:44496200-44497000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr18:44496200-44497000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:44496200-44497200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr18:44496200-44497800	Active TSS	Muscle Satellite Cultured Cells	--

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