Variant report

Variant	nsv1061855
Chromosome Location	chr18:6846738-6868487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr18:6868113-6868297	K562	blood:	n/a	n/a
2	CEBPB	chr18:6867236-6867306	K562	blood:	n/a	n/a
3	CEBPB	chr18:6859583-6859856	IMR90	lung:	n/a	n/a
4	CEBPB	chr18:6857272-6857652	IMR90	lung:	n/a	n/a
5	CEBPB	chr18:6867159-6867359	HepG2	liver:	n/a	n/a
6	CTCF	chr18:6857440-6857590	AG04450	lung:	n/a	n/a
7	CTCF	chr18:6846627-6846742	H1-hESC	embryonic stem cell:	n/a	chr18:6846694-6846712
8	CTCF	chr18:6856133-6856271	K562	blood:	n/a	n/a
9	CTCF	chr18:6857420-6857570	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr18:6857440-6857590	HPF	lung:	n/a	n/a
11	CTCF	chr18:6857460-6857610	AG04450	lung:	n/a	n/a
12	ELF1	chr18:6855226-6855420	K562	blood:	n/a	chr18:6855331-6855344
13	MAFK	chr18:6864573-6864661	HepG2	liver:	n/a	n/a
14	MAZ	chr18:6857667-6857681	K562	blood:	n/a	n/a
15	MXI1	chr18:6857225-6857848	IMR90	lung:	n/a	n/a
16	MYC	chr18:6855905-6855915	MCF-7	breast:	n/a	n/a
17	MYC	chr18:6861092-6861184	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr18:6855941-6855993	GM12878	blood:	n/a	n/a
19	MYC	chr18:6855873-6855900	MCF-7	breast:	n/a	n/a
20	NFYB	chr18:6855194-6855489	K562	blood:	n/a	n/a
21	POLR2A	chr18:6850500-6850629	GM12878	blood:	n/a	n/a
22	POLR2A	chr18:6855843-6856069	MCF-7	breast:	n/a	n/a
23	POLR2A	chr18:6852799-6852877	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr18:6852050-6852525	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr18:6859580-6859901	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr18:6857486-6857545	MCF-7	breast:	n/a	n/a
27	RAD21	chr18:6857365-6857649	IMR90	lung:	n/a	n/a
28	RAD21	chr18:6846576-6846768	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr18:6846512-6846884	H1-hESC	embryonic stem cell:	n/a	n/a
30	RFX5	chr18:6866789-6866850	K562	blood:	n/a	n/a
31	SPI1	chr18:6855287-6855437	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:6742579..6744550-chr18:6848151..6850631,2	K562	blood:
2	chr18:6866880..6869867-chr18:6872709..6875099,2	K562	blood:

No data

Variant related genes	Relation type
ARHGAP28	TF binding region
ENSG00000088756	chromatin interactions
ENSG00000263797	chromatin interactions

Extended variants
information (count: 820 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8091436	chr18:6846738-6846739	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562080854	chr18:6846764-6846765	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs180978669	chr18:6846809-6846810	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34300096	chr18:6846865-6846866	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116503110	chr18:6846961-6846962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35410593	chr18:6847032-6847033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561873684	chr18:6847046-6847047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112175919	chr18:6847052-6847053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547758324	chr18:6847059-6847060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564047724	chr18:6847084-6847085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532821785	chr18:6847118-6847119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77925384	chr18:6847176-6847177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186234786	chr18:6847177-6847178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368012803	chr18:6847226-6847227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141684492	chr18:6847253-6847254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568356944	chr18:6847267-6847268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534218816	chr18:6847276-6847277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67003835	chr18:6847295-6847296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577154595	chr18:6847339-6847340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539421337	chr18:6847349-6847350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556523433	chr18:6847353-6847354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576417391	chr18:6847426-6847427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542383016	chr18:6847558-6847559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561859158	chr18:6847571-6847572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558937635	chr18:6847602-6847603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201353704	chr18:6847621-6847622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77665817	chr18:6847625-6847626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75219467	chr18:6847626-6847627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200958737	chr18:6847627-6847628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199816287	chr18:6847628-6847629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113144982	chr18:6847629-6847630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35510565	chr18:6847630-6847631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60063372	chr18:6847651-6847652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78368325	chr18:6847652-6847653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533451826	chr18:6847654-6847655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564189373	chr18:6847666-6847667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533281554	chr18:6847702-6847703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549467437	chr18:6847707-6847708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115567957	chr18:6847717-6847718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528971306	chr18:6847723-6847724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548716243	chr18:6847759-6847760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568294585	chr18:6847760-6847761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534158912	chr18:6847767-6847768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546417103	chr18:6847790-6847791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577159558	chr18:6847814-6847815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571009218	chr18:6847847-6847848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540134590	chr18:6847882-6847883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556274413	chr18:6847886-6847887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75034888	chr18:6847887-6847888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150130024	chr18:6847904-6847905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Obesity	20622171	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6818000-6854600	Weak transcription	Spleen	Spleen
2	chr18:6822800-6851000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:6823200-6852800	Weak transcription	Fetal Stomach	stomach
4	chr18:6825800-6851200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:6826000-6850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:6826000-6850800	Weak transcription	HSMM	muscle
7	chr18:6826000-6851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:6826000-6851000	Weak transcription	Adipose Nuclei	Adipose
9	chr18:6830800-6850600	Weak transcription	Ovary	ovary
10	chr18:6834600-6854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:6835000-6850400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:6836600-6850600	Weak transcription	Placenta	Placenta
13	chr18:6836600-6851600	Weak transcription	Fetal Brain Male	brain
14	chr18:6836600-6854600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:6836600-6854600	Weak transcription	Gastric	stomach
16	chr18:6837400-6855600	Weak transcription	Psoas Muscle	Psoas
17	chr18:6837600-6860600	Weak transcription	HSMMtube	muscle
18	chr18:6838400-6851000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:6838600-6851000	Weak transcription	Fetal Kidney	kidney
20	chr18:6841400-6851000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:6842400-6849600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:6842800-6850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:6842800-6851000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:6843600-6850600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:6844600-6851800	Strong transcription	Fetal Lung	lung
26	chr18:6844800-6848600	Weak transcription	Lung	lung
27	chr18:6845400-6848200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:6846000-6847000	Strong transcription	Fetal Muscle Leg	muscle
29	chr18:6846000-6849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:6846200-6855000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:6847000-6848600	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:6847000-6851000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:6848000-6851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr18:6848000-6851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:6848200-6850600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr18:6848600-6848800	ZNF genes & repeats	Lung	lung
37	chr18:6848600-6851000	Strong transcription	Fetal Muscle Leg	muscle
38	chr18:6848800-6854600	Weak transcription	Lung	lung
39	chr18:6848800-6855000	Weak transcription	Pancreas	Pancrea
40	chr18:6849200-6851000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:6849600-6856000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:6850000-6850600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:6850400-6850600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:6850400-6861400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:6850600-6851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:6850600-6852000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr18:6850600-6852400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr18:6850600-6853200	Strong transcription	Placenta	Placenta
49	chr18:6850600-6854000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:6850600-6854200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links