Variant report

Variant	esv2761987
Chromosome Location	chr18:7934001-7943335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:7941552-7941942	MCF-7	breast:	n/a	n/a
2	CEBPB	chr18:7941561-7941855	A549	lung:	n/a	n/a
3	CHD2	chr18:7941047-7941234	GM12878	blood:	n/a	n/a
4	CREB1	chr18:7941558-7941857	A549	lung:	n/a	n/a
5	E2F4	chr18:7941708-7941914	MCF10A-Er-Src	breast:	n/a	n/a
6	ELF1	chr18:7941586-7941947	MCF-7	breast:	n/a	n/a
7	EP300	chr18:7941613-7941876	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr18:7941439-7942093	A549	lung:	n/a	n/a
9	EP300	chr18:7941045-7941257	GM12878	blood:	n/a	n/a
10	EP300	chr18:7941587-7941861	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr18:7941461-7941943	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr18:7941481-7941923	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr18:7941489-7941799	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr18:7941500-7941846	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA2	chr18:7941612-7941949	A549	lung:	n/a	n/a
16	FOXA2	chr18:7941569-7941940	A549	lung:	n/a	n/a
17	GATA2	chr18:7941537-7942018	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr18:7941484-7942149	MCF-7	breast:	n/a	n/a
19	GATA3	chr18:7941525-7942097	MCF-7	breast:	n/a	n/a
20	GATA3	chr18:7941361-7941946	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr18:7941603-7941880	MCF-7	breast:	n/a	n/a
22	HDAC2	chr18:7941517-7942001	MCF-7	breast:	n/a	n/a
23	JUN	chr18:7937818-7937826	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr18:7941498-7941961	MCF-7	breast:	n/a	n/a
25	MYC	chr18:7941489-7941933	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr18:7941553-7941888	MCF10A-Er-Src	breast:	n/a	n/a
27	NFYB	chr18:7938718-7938792	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr18:7941577-7942033	MCF-7	breast:	n/a	n/a
29	NR3C1	chr18:7941510-7941942	A549	lung:	n/a	n/a
30	NR3C1	chr18:7941571-7941914	A549	lung:	n/a	n/a
31	NR3C1	chr18:7941543-7941951	A549	lung:	n/a	n/a
32	NR3C1	chr18:7941590-7941865	A549	lung:	n/a	n/a
33	POLR2A	chr18:7941659-7942615	A549	lung:	n/a	n/a
34	POLR2A	chr18:7941536-7941996	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr18:7936425-7936625	Gliobla	brain:	n/a	n/a
36	POLR2A	chr18:7942877-7943032	A549	lung:	n/a	n/a
37	POLR2A	chr18:7938393-7938593	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr18:7939629-7941145	A549	lung:	n/a	n/a
39	POLR2A	chr18:7936429-7937110	A549	lung:	n/a	n/a
40	POLR2A	chr18:7937117-7937236	ProgFib	skin:	n/a	n/a
41	POLR2A	chr18:7937364-7938006	A549	lung:	n/a	n/a
42	RAD21	chr18:7941604-7941847	SK-N-SH_RA	brain:	n/a	n/a
43	RCOR1	chr18:7939126-7939138	K562	blood:	n/a	n/a
44	REST	chr18:7941619-7941828	SK-N-SH	brain:	n/a	n/a
45	SP1	chr18:7941496-7941993	A549	lung:	n/a	n/a
46	SPI1	chr18:7941023-7941295	GM12878	blood:	n/a	n/a
47	STAT3	chr18:7941543-7941756	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr18:7941556-7941820	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr18:7941599-7941835	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr18:7941490-7941802	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7936902..7939574-chr18:7940048..7941947,2	K562	blood:
2	chr18:7936902..7939574-chr18:7940048..7941947,2	K562	blood:

No data

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 364 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1016188	chr18:7934001-7934002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559743748	chr18:7934015-7934016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35498267	chr18:7934043-7934044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373412181	chr18:7934141-7934142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34017251	chr18:7934192-7934193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184684152	chr18:7934198-7934199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146956494	chr18:7934200-7934201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189103724	chr18:7934208-7934209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138136797	chr18:7934268-7934269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73381803	chr18:7934288-7934289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11376897	chr18:7934313-7934314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397688647	chr18:7934321-7934322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370207850	chr18:7934336-7934337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538833273	chr18:7934374-7934375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558418034	chr18:7934378-7934379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530247830	chr18:7934401-7934402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572324731	chr18:7934465-7934466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143609953	chr18:7934477-7934478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566924987	chr18:7934503-7934504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538669397	chr18:7934522-7934523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115473009	chr18:7934536-7934537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191616378	chr18:7934582-7934583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184249733	chr18:7934621-7934622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7234961	chr18:7934623-7934624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577125960	chr18:7934653-7934654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574269493	chr18:7934676-7934677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540095843	chr18:7934715-7934716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189046406	chr18:7934716-7934717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554639160	chr18:7934733-7934734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553600538	chr18:7934734-7934735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147222490	chr18:7934766-7934767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576831980	chr18:7934793-7934794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181038762	chr18:7934806-7934807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185478093	chr18:7934819-7934820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575883711	chr18:7934862-7934863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544900699	chr18:7934889-7934890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561538082	chr18:7934917-7934918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11877095	chr18:7934952-7934953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547177332	chr18:7934955-7934956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116942759	chr18:7934969-7934970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544678431	chr18:7935022-7935023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532632337	chr18:7935030-7935031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190832008	chr18:7935039-7935040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569218278	chr18:7935098-7935099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543631187	chr18:7935137-7935138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537775731	chr18:7935138-7935139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548099664	chr18:7935153-7935154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34046553	chr18:7935158-7935159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181698973	chr18:7935198-7935199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138628706	chr18:7935239-7935240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7940600	Weak transcription	Gastric	stomach
2	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
3	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
4	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
6	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
13	chr18:7926400-7945200	Weak transcription	Ovary	ovary
14	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
15	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
17	chr18:7927400-7936400	Weak transcription	Aorta	Aorta
18	chr18:7927400-7939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:7927400-7940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:7927800-7936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:7927800-7937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
23	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:7928200-7937400	Weak transcription	Left Ventricle	heart
25	chr18:7929400-7935800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:7929600-7937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:7932200-7936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:7932200-7961000	Weak transcription	HepG2	liver
30	chr18:7932800-7934200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:7933400-7940400	Weak transcription	Lung	lung
32	chr18:7933600-7945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr18:7933800-7936200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:7933800-7936400	Weak transcription	A549	lung
35	chr18:7933800-7940000	Weak transcription	Right Atrium	heart
36	chr18:7934200-7941000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:7935400-7937000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:7935600-7936600	Weak transcription	Pancreas	Pancrea
39	chr18:7935800-7936400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:7935800-7936600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:7936000-7936800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:7936200-7936800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:7936200-7937600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:7936200-7937600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:7936200-7937600	Strong transcription	Thymus	Thymus
46	chr18:7936200-7937800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:7936400-7936800	ZNF genes & repeats	Aorta	Aorta
48	chr18:7936400-7936800	Strong transcription	A549	lung
49	chr18:7936400-7937000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:7936400-7937600	Enhancers	Spleen	Spleen

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