Variant report

Variant	rs75752438
Chromosome Location	chr18:9136322-9136323
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	ZNF143	chr18:9135910-9136595	H1-hESC	embryonic stem cell:	n/a	chr18:9136244-9136254
2	POLR2A	chr18:9135855-9136329	A549	lung:	n/a	n/a
3	YY1	chr18:9135875-9137655	HepG2	liver:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
4	JUND	chr18:9135952-9136829	H1-hESC	embryonic stem cell:	n/a	chr18:9136184-9136193
5	POLR2A	chr18:9135417-9138100	MCF10A-Er-Src	breast:	n/a	n/a
6	YY1	chr18:9136210-9136586	A549	lung:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136242-9136251 chr18:9136381-9136393
7	MAX	chr18:9136256-9137891	SK-N-SH	brain:	n/a	n/a
8	ELF1	chr18:9135819-9137771	GM12878	blood:	n/a	chr18:9136176-9136188 chr18:9137621-9137632 chr18:9136190-9136202 chr18:9136245-9136254
9	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
10	MAX	chr18:9135786-9137614	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
11	SMARCC1	chr18:9135837-9136989	Hela-S3	cervix:	n/a	n/a
12	MAX	chr18:9135756-9137139	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
13	YY1	chr18:9136189-9136896	SK-N-SH_RA	brain:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9136614-9136625 chr18:9136381-9136393
14	TAF1	chr18:9136070-9137615	HepG2	liver:	n/a	n/a
15	POLR2A	chr18:9136305-9136999	HUVEC	blood vessel:	n/a	n/a
16	TAF1	chr18:9135937-9137175	H1-neurons	neurons:	n/a	n/a
17	ETS1	chr18:9136067-9137086	GM12878	blood:	n/a	chr18:9136183-9136194 chr18:9136610-9136621
18	CHD2	chr18:9135774-9137456	Hela-S3	cervix:	n/a	n/a
19	YY1	chr18:9135965-9137659	GM12892	blood:	n/a	chr18:9137372-9137383 chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9137368-9137379 chr18:9136188-9136202 chr18:9137382-9137404 chr18:9137379-9137393 chr18:9136614-9136625 chr18:9137359-9137370 chr18:9137394-9137404 chr18:9136381-9136393
20	MAX	chr18:9135620-9137065	ECC-1	luminal epithelium:	n/a	chr18:9136179-9136189
21	SIN3A	chr18:9136257-9137153	GM12878	blood:	n/a	chr18:9136644-9136655 chr18:9136607-9136618
22	PAX5	chr18:9136017-9137645	GM12892	blood:	n/a	chr18:9136633-9136651 chr18:9136632-9136651
23	POU2F2	chr18:9135833-9137070	GM12891	blood:	n/a	n/a
24	MYC	chr18:9136126-9136915	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
25	POLR2A	chr18:9135689-9137843	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr18:9136009-9137029	SK-N-SH	brain:	n/a	n/a
27	GTF2B	chr18:9136304-9136504	K562	blood:	n/a	n/a
28	RELA	chr18:9136312-9137081	GM18951	blood:	n/a	n/a
29	POLR2A	chr18:9135733-9137922	GM19193	blood:	n/a	n/a
30	POLR2A	chr18:9135540-9137259	GM12892	blood:	n/a	n/a
31	USF1	chr18:9135727-9137255	HCT-116	colon:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
32	YY1	chr18:9135917-9137072	SK-N-SH_RA	brain:	n/a	chr18:9136382-9136392 chr18:9136283-9136297 chr18:9136651-9136665 chr18:9136242-9136251 chr18:9136607-9136616 chr18:9136188-9136202 chr18:9136614-9136625 chr18:9136381-9136393
33	ELK1	chr18:9136059-9137056	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr18:9135872-9137075	K562	blood:	n/a	n/a
35	NRF1	chr18:9136182-9138169	SK-N-SH	brain:	n/a	n/a
36	MAX	chr18:9135763-9137991	GM12878	blood:	n/a	chr18:9136179-9136189
37	CTCF	chr18:9136320-9136470	K562	blood:	n/a	n/a
38	SIN3AK20	chr18:9136293-9137029	SK-N-SH	brain:	n/a	n/a
39	JUN	chr18:9136169-9137013	K562	blood:	n/a	chr18:9136184-9136193
40	PML	chr18:9135681-9136662	K562	blood:	n/a	n/a
41	RCOR1	chr18:9135760-9137087	Hela-S3	cervix:	n/a	n/a
42	SP4	chr18:9135937-9136980	H1-hESC	embryonic stem cell:	n/a	chr18:9136694-9136705 chr18:9136640-9136651 chr18:9136680-9136691
43	POLR2A	chr18:9135771-9138048	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr18:9135790-9137129	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr18:9135537-9137259	GM12891	blood:	n/a	n/a
46	TRIM28	chr18:9136014-9137002	K562	blood:	n/a	n/a
47	EP300	chr18:9136114-9137077	GM12878	blood:	n/a	chr18:9136243-9136252 chr18:9136652-9136668 chr18:9136245-9136254
48	E2F4	chr18:9135926-9137675	K562	blood:	n/a	chr18:9136243-9136253 chr18:9136770-9136779 chr18:9136638-9136649 chr18:9137376-9137386 chr18:9137032-9137042 chr18:9136468-9136478 chr18:9136639-9136651
49	RFX5	chr18:9135810-9137026	Hela-S3	cervix:	n/a	n/a
50	MAX	chr18:9135618-9137216	HCT-116	colon:	n/a	chr18:9136179-9136189

No.	Distal block	Cell Line	Cell type
1	chr18:9136119..9137040-chr6:30710256..30710928,2	Hela-S3	cervix:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
5	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
6	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
7	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
8	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
9	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
10	chr18:9102609..9103201-chr18:9135838..9136592,2	MCF-7	breast:
11	chr16:69788330..69789298-chr18:9136242..9137229,2	Hela-S3	cervix:
12	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
13	chr18:9135921..9136800-chr19:1241349..1242081,2	Hela-S3	cervix:
14	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-4	chr18:9135711-9136489	ENSG00000266053.2

Variant related genes	Relation type
ENSG00000266053	TF binding region
ANKRD12	TF binding region
ENSG00000265257	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000242058	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000099624	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000206418	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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3396257	chr18:9135852-9138500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9134800-9137800	Active TSS	Fetal Brain Female	brain
2	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr18:9135200-9136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr18:9135200-9137000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr18:9135200-9137800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr18:9135200-9138000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:9135200-9138200	Active TSS	Spleen	Spleen
9	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr18:9135400-9136400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr18:9135400-9136400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr18:9135400-9136400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:9135400-9136400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr18:9135400-9138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
19	chr18:9135600-9136400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr18:9135600-9136400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr18:9135600-9136400	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr18:9135600-9136400	Flanking Active TSS	NHEK	skin
23	chr18:9135600-9136400	Flanking Active TSS	NHLF	lung
24	chr18:9135600-9136600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:9135600-9137800	Active TSS	Brain Germinal Matrix	brain
26	chr18:9135600-9138000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:9135600-9138000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:9135600-9138000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:9135600-9138200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus
31	chr18:9135600-9138800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr18:9135600-9139000	Active TSS	A549	lung
33	chr18:9135600-9140000	Active TSS	Right Ventricle	heart
34	chr18:9135600-9140200	Active TSS	NHDF-Ad	bronchial
35	chr18:9135800-9136400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9135800-9136400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:9135800-9137000	Transcr. at gene 5' and 3'	Right Atrium	heart
38	chr18:9135800-9138000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9135800-9138200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:9135800-9138200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr18:9135800-9138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr18:9135800-9138400	Active TSS	Fetal Intestine Large	intestine
43	chr18:9135800-9138400	Active TSS	Left Ventricle	heart
44	chr18:9135800-9138600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr18:9135800-9138600	Active TSS	Fetal Intestine Small	intestine
46	chr18:9135800-9138600	Active TSS	Lung	lung
47	chr18:9135800-9138600	Active TSS	Pancreas	Pancrea
48	chr18:9135800-9138600	Active TSS	Small Intestine	intestine
49	chr18:9135800-9138800	Active TSS	Ovary	ovary
50	chr18:9135800-9138800	Active TSS	Hela-S3	cervix

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