Variant report

Variant	esv3427620
Chromosome Location	chr18:6729456-6729586
allele	n/a
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	ATF3	chr18:6729564-6730053	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729723-6729732
2	BACH1	chr18:6729219-6730072	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr18:6729199-6730217	K562	blood:	n/a	chr18:6729727-6729743
4	CBX3	chr18:6729250-6730140	K562	blood:	n/a	n/a
5	CCNT2	chr18:6728692-6730125	K562	blood:	n/a	n/a
6	CHD2	chr18:6729083-6730120	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr18:6729343-6730118	K562	blood:	n/a	n/a
8	CREB1	chr18:6729502-6730135	K562	blood:	n/a	n/a
9	CREB1	chr18:6729209-6730133	K562	blood:	n/a	n/a
10	CREB1	chr18:6729105-6730202	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr18:6729246-6730216	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr18:6729257-6730143	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr18:6729320-6729470	Caco-2	colon:	n/a	n/a
14	CTCF	chr18:6729340-6729490	Caco-2	colon:	n/a	n/a
15	CTCF	chr18:6728971-6730360	SK-N-SH	brain:	n/a	chr18:6729229-6729242 chr18:6730067-6730075 chr18:6729959-6729968
16	CTCF	chr18:6729561-6730161	K562	blood:	n/a	chr18:6730067-6730075 chr18:6729959-6729968
17	CTCF	chr18:6729340-6729490	HUVEC	blood vessel:	n/a	n/a
18	E2F1	chr18:6729317-6730129	Hela-S3	cervix:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
19	E2F4	chr18:6729213-6730077	K562	blood:	n/a	chr18:6729644-6729655 chr18:6729600-6729609 chr18:6729692-6729703 chr18:6729725-6729734
20	E2F4	chr18:6729185-6730113	MCF10A-Er-Src	breast:	n/a	chr18:6729644-6729655 chr18:6729600-6729609 chr18:6729692-6729703 chr18:6729725-6729734
21	E2F6	chr18:6729572-6730163	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
22	E2F6	chr18:6729223-6729510	K562	blood:	n/a	n/a
23	E2F6	chr18:6729511-6730189	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
24	E2F6	chr18:6729539-6730370	H1-hESC	embryonic stem cell:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
25	E2F6	chr18:6728839-6730248	K562	blood:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
26	EGR1	chr18:6729258-6729770	K562	blood:	n/a	chr18:6729601-6729614 chr18:6729601-6729611
27	EGR1	chr18:6729430-6729761	K562	blood:	n/a	chr18:6729601-6729614 chr18:6729601-6729611
28	ELF1	chr18:6729546-6730091	K562	blood:	n/a	n/a
29	EP300	chr18:6729554-6730079	SK-N-SH_RA	brain:	n/a	chr18:6729692-6729708 chr18:6729725-6729741 chr18:6729793-6729802
30	EP300	chr18:6728506-6730047	K562	blood:	n/a	chr18:6728958-6728968 chr18:6729195-6729209 chr18:6729184-6729198 chr18:6729101-6729114 chr18:6729692-6729708 chr18:6729725-6729741 chr18:6729297-6729310 chr18:6728929-6728938 chr18:6729793-6729802
31	ETS1	chr18:6729583-6730084	K562	blood:	n/a	n/a
32	FOXP2	chr18:6729287-6729951	PFSK-1	brain:	n/a	n/a
33	FOXP2	chr18:6729223-6729751	SK-N-MC	brain:	n/a	n/a
34	GABPA	chr18:6729212-6729780	K562	blood:	n/a	chr18:6729310-6729319
35	GTF2F1	chr18:6729403-6729603	H1-hESC	embryonic stem cell:	n/a	n/a
36	HA-E2F1	chr18:6729215-6730119	Hela-S3	cervix:	n/a	chr18:6729600-6729609 chr18:6729725-6729734
37	HCFC1	chr18:6729270-6730130	K562	blood:	n/a	n/a
38	HDAC2	chr18:6729492-6730134	H1-hESC	embryonic stem cell:	n/a	n/a
39	HEY1	chr18:6729511-6730072	K562	blood:	n/a	n/a
40	HEY1	chr18:6729169-6730123	K562	blood:	n/a	n/a
41	HMGN3	chr18:6728713-6730134	K562	blood:	n/a	n/a
42	IRF1	chr18:6728671-6729906	K562	blood:	n/a	chr18:6729194-6729208 chr18:6729182-6729202 chr18:6729186-6729200
43	IRF1	chr18:6728650-6729923	K562	blood:	n/a	chr18:6729194-6729208 chr18:6729182-6729202 chr18:6729186-6729200
44	JUN	chr18:6729520-6730207	K562	blood:	n/a	n/a
45	JUND	chr18:6728927-6730162	H1-hESC	embryonic stem cell:	n/a	chr18:6728931-6728940
46	JUND	chr18:6728508-6730205	K562	blood:	n/a	chr18:6728931-6728940
47	KAP1	chr18:6728909-6729545	U2OS	brain:	n/a	n/a
48	MAFK	chr18:6729132-6729602	Hela-S3	cervix:	n/a	n/a
49	MAX	chr18:6729159-6730228	ECC-1	luminal epithelium:	n/a	chr18:6729601-6729611
50	MAX	chr18:6728939-6730149	Hela-S3	cervix:	n/a	chr18:6729601-6729611

Variant related genes	Relation type
ARHGAP28	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562981374	chr18:6729459-6729460	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561433187	chr18:6729467-6729468	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148262463	chr18:6729476-6729477	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200014488	chr18:6729481-6729482	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186424164	chr18:6729488-6729489	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183096351	chr18:6729493-6729494	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201132662	chr18:6729494-6729495	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201923574	chr18:6729499-6729500	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372734068	chr18:6729501-6729502	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs144047317	chr18:6729502-6729503	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570729819	chr18:6729520-6729521	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs8094346	chr18:6729530-6729531	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs8094347	chr18:6729531-6729532	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139018169	chr18:6729543-6729544	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111374779	chr18:6729546-6729547	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77864861	chr18:6729547-6729548	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375768590	chr18:6729557-6729558	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570807692	chr18:6729558-6729559	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76501521	chr18:6729571-6729572	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550162250	chr18:6729573-6729574	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6728400-6730600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:6728600-6730600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr18:6728800-6729600	Enhancers	Fetal Brain Male	brain
4	chr18:6728800-6730000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr18:6728800-6730200	Active TSS	Osteobl	bone
6	chr18:6728800-6730400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:6728800-6730400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr18:6728800-6730400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:6728800-6730400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr18:6728800-6730600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr18:6728800-6730600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:6728800-6730800	Active TSS	Fetal Muscle Trunk	muscle
13	chr18:6728800-6730800	Active TSS	Stomach Smooth Muscle	stomach
14	chr18:6729000-6729600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:6729000-6729600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:6729000-6730000	Active TSS	Lung	lung
17	chr18:6729000-6730000	Active TSS	Pancreas	Pancrea
18	chr18:6729000-6730200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:6729000-6730200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:6729000-6730200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:6729000-6730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:6729000-6730200	Active TSS	Brain Cingulate Gyrus	brain
23	chr18:6729000-6730200	Active TSS	Brain Hippocampus Middle	brain
24	chr18:6729000-6730200	Active TSS	Duodenum Mucosa	Duodenum
25	chr18:6729000-6730200	Active TSS	Left Ventricle	heart
26	chr18:6729000-6730200	Bivalent/Poised TSS	Thymus	Thymus
27	chr18:6729000-6730200	Bivalent/Poised TSS	HepG2	liver
28	chr18:6729000-6730400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr18:6729000-6730400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr18:6729000-6730400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr18:6729000-6730400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:6729000-6730400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:6729000-6730400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:6729000-6730400	Active TSS	Brain Anterior Caudate	brain
35	chr18:6729000-6730400	Active TSS	Fetal Kidney	kidney
36	chr18:6729000-6730400	Active TSS	Right Ventricle	heart
37	chr18:6729000-6730400	Active TSS	NHDF-Ad	bronchial
38	chr18:6729000-6730600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:6729000-6730600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr18:6729000-6730600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:6729000-6730600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:6729000-6730600	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr18:6729000-6730600	Active TSS	Brain Substantia Nigra	brain
44	chr18:6729000-6730600	Active TSS	Fetal Brain Female	brain
45	chr18:6729000-6730600	Active TSS	HMEC	breast
46	chr18:6729000-6730800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr18:6729000-6730800	Active TSS	Psoas Muscle	Psoas
48	chr18:6729000-6730800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr18:6729000-6730800	Active TSS	Rectal Smooth Muscle	rectum
50	chr18:6729000-6730800	Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links