Variant report

Variant	rs72935236
Chromosome Location	chr18:9136032-9136033
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	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	ELF1	chr18:9135819-9137771	GM12878	blood:	n/a	chr18:9136176-9136188 chr18:9137621-9137632 chr18:9136190-9136202 chr18:9136245-9136254
7	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
8	TEAD4	chr18:9135838-9136273	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr18:9135786-9137614	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
10	SMARCC1	chr18:9135837-9136989	Hela-S3	cervix:	n/a	n/a
11	TCF12	chr18:9135862-9136215	GM12878	blood:	n/a	n/a
12	MAX	chr18:9135756-9137139	H1-hESC	embryonic stem cell:	n/a	chr18:9136179-9136189
13	TAF1	chr18:9135937-9137175	H1-neurons	neurons:	n/a	n/a
14	CHD2	chr18:9135774-9137456	Hela-S3	cervix:	n/a	n/a
15	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
16	MAX	chr18:9135620-9137065	ECC-1	luminal epithelium:	n/a	chr18:9136179-9136189
17	MYC	chr18:9135692-9136187	MCF10A-Er-Src	breast:	n/a	n/a
18	PAX5	chr18:9136017-9137645	GM12892	blood:	n/a	chr18:9136633-9136651 chr18:9136632-9136651
19	POU2F2	chr18:9135833-9137070	GM12891	blood:	n/a	n/a
20	POLR2A	chr18:9135689-9137843	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr18:9136009-9137029	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr18:9135733-9137922	GM19193	blood:	n/a	n/a
23	POLR2A	chr18:9135540-9137259	GM12892	blood:	n/a	n/a
24	USF1	chr18:9135727-9137255	HCT-116	colon:	n/a	chr18:9136608-9136624 chr18:9136734-9136745 chr18:9136751-9136762
25	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
26	GABPA	chr18:9135872-9137075	K562	blood:	n/a	n/a
27	MAX	chr18:9135763-9137991	GM12878	blood:	n/a	chr18:9136179-9136189
28	PML	chr18:9135681-9136662	K562	blood:	n/a	n/a
29	RCOR1	chr18:9135760-9137087	Hela-S3	cervix:	n/a	n/a
30	SP4	chr18:9135937-9136980	H1-hESC	embryonic stem cell:	n/a	chr18:9136694-9136705 chr18:9136640-9136651 chr18:9136680-9136691
31	POLR2A	chr18:9135771-9138048	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr18:9135790-9137129	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr18:9135537-9137259	GM12891	blood:	n/a	n/a
34	TRIM28	chr18:9136014-9137002	K562	blood:	n/a	n/a
35	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
36	RFX5	chr18:9135810-9137026	Hela-S3	cervix:	n/a	n/a
37	MAX	chr18:9135618-9137216	HCT-116	colon:	n/a	chr18:9136179-9136189
38	CTCF	chr18:9135822-9136172	GM12878	blood:	n/a	chr18:9136117-9136126
39	MAZ	chr18:9135799-9137994	Hela-S3	cervix:	n/a	chr18:9136179-9136189
40	STAT5A	chr18:9135543-9137040	GM12878	blood:	n/a	chr18:9136637-9136649
41	POLR2A	chr18:9135637-9136642	GM12891	blood:	n/a	n/a
42	POLR2A	chr18:9135670-9137044	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr18:9135740-9136968	K562	blood:	n/a	chr18:9136179-9136189
44	POLR2A	chr18:9135848-9137126	HepG2	liver:	n/a	n/a
45	POLR2A	chr18:9135687-9138123	GM12878	blood:	n/a	n/a
46	MAZ	chr18:9135473-9138318	IMR90	lung:	n/a	chr18:9136179-9136189
47	POLR2A	chr18:9135559-9136620	A549	lung:	n/a	n/a
48	MAX	chr18:9135677-9137989	A549	lung:	n/a	chr18:9136179-9136189
49	UBTF	chr18:9135664-9138104	K562	blood:	n/a	n/a
50	MTA3	chr18:9135656-9136669	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
2	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
3	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
4	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
5	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
6	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
7	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
8	chr18:9102609..9103201-chr18:9135838..9136592,2	MCF-7	breast:
9	chr18:9135921..9136800-chr19:1241349..1242081,2	Hela-S3	cervix:
10	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
11	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
ANKRD12	TF binding region
ENSG00000266053	TF binding region
ENSG00000265257	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000242058	Chromatin interaction
ENSG00000099624	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000206418	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1046483	0.80[EUR][1000 genomes]
rs10502391	0.80[EUR][1000 genomes]
rs12326829	0.80[EUR][1000 genomes]
rs1443597	0.80[EUR][1000 genomes]
rs16954886	0.80[EUR][1000 genomes]
rs16954905	0.80[EUR][1000 genomes]
rs17413344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17497377	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17498752	0.80[EUR][1000 genomes]
rs17498969	0.80[EUR][1000 genomes]
rs17499116	0.80[EUR][1000 genomes]
rs1899668	0.80[EUR][1000 genomes]
rs2120316	0.80[EUR][1000 genomes]
rs2377962	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28520663	0.80[EUR][1000 genomes]
rs28578690	0.85[ASN][1000 genomes]
rs28619483	0.80[EUR][1000 genomes]
rs2864515	0.80[EUR][1000 genomes]
rs3213925	0.80[EUR][1000 genomes]
rs3744822	0.80[EUR][1000 genomes]
rs3744823	0.80[EUR][1000 genomes]
rs4356535	0.80[EUR][1000 genomes]
rs4449017	0.80[EUR][1000 genomes]
rs4490062	0.80[EUR][1000 genomes]
rs5011606	0.80[EUR][1000 genomes]
rs56996721	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57716132	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58350342	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59018067	0.80[EUR][1000 genomes]
rs59616258	0.80[EUR][1000 genomes]
rs59633812	0.80[EUR][1000 genomes]
rs59983698	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60119987	0.80[EUR][1000 genomes]
rs60143204	0.84[EUR][1000 genomes]
rs60354371	0.80[EUR][1000 genomes]
rs7229105	0.84[EUR][1000 genomes]
rs7235358	0.80[EUR][1000 genomes]
rs72935229	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935253	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935260	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935263	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935265	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935266	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935267	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935274	0.87[EUR][1000 genomes]
rs72937244	0.84[EUR][1000 genomes]
rs72937245	0.84[EUR][1000 genomes]
rs72937248	0.84[EUR][1000 genomes]
rs72937250	0.84[EUR][1000 genomes]
rs72937257	0.81[EUR][1000 genomes]
rs72937258	0.80[EUR][1000 genomes]
rs72937259	0.80[EUR][1000 genomes]
rs72937263	0.80[EUR][1000 genomes]
rs72937267	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72937270	0.80[EUR][1000 genomes]
rs72937287	0.80[EUR][1000 genomes]
rs72937291	0.80[EUR][1000 genomes]
rs72937297	0.80[EUR][1000 genomes]
rs72937301	0.80[EUR][1000 genomes]
rs72939207	0.80[EUR][1000 genomes]
rs72939211	0.80[EUR][1000 genomes]
rs72939216	0.84[AFR][1000 genomes]
rs72939219	0.80[EUR][1000 genomes]
rs72939220	0.80[EUR][1000 genomes]
rs72939221	0.80[EUR][1000 genomes]
rs72939224	0.80[EUR][1000 genomes]
rs72939227	0.80[EUR][1000 genomes]
rs72939230	0.80[EUR][1000 genomes]
rs72939231	0.80[EUR][1000 genomes]
rs72939232	0.80[EUR][1000 genomes]
rs72939235	0.80[EUR][1000 genomes]
rs72939239	0.80[EUR][1000 genomes]
rs7506375	0.80[EUR][1000 genomes]
rs7506561	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8094979	0.87[EUR][1000 genomes]
rs8098544	0.80[EUR][1000 genomes]
rs9652921	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9675513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9748485	0.80[EUR][1000 genomes]

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	chr18:9135000-9136200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:9135000-9136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr18:9135200-9136200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:9135200-9136200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr18:9135200-9136200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr18:9135200-9136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9135200-9137000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr18:9135200-9137800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr18:9135200-9138000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:9135200-9138200	Active TSS	Spleen	Spleen
14	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr18:9135400-9136200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:9135400-9136200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr18:9135400-9136200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr18:9135400-9136400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr18:9135400-9136400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr18:9135400-9136400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:9135400-9136400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:9135400-9138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
27	chr18:9135600-9136200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9135600-9136200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr18:9135600-9136200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr18:9135600-9136200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:9135600-9136200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr18:9135600-9136200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr18:9135600-9136200	Flanking Active TSS	Fetal Lung	lung
34	chr18:9135600-9136200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
35	chr18:9135600-9136200	Flanking Active TSS	Fetal Thymus	thymus
36	chr18:9135600-9136200	Flanking Active TSS	HMEC	breast
37	chr18:9135600-9136200	Flanking Active TSS	HSMM	muscle
38	chr18:9135600-9136200	Flanking Active TSS	HUVEC	blood vessel
39	chr18:9135600-9136400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr18:9135600-9136400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr18:9135600-9136400	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr18:9135600-9136400	Flanking Active TSS	NHEK	skin
43	chr18:9135600-9136400	Flanking Active TSS	NHLF	lung
44	chr18:9135600-9136600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:9135600-9137800	Active TSS	Brain Germinal Matrix	brain
46	chr18:9135600-9138000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:9135600-9138000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:9135600-9138000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:9135600-9138200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus

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