Variant report

Variant	nsv9604
Chromosome Location	chr18:6843479-6846587
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	CEBPB	chr18:6844433-6844674	A549	lung:	n/a	chr18:6844573-6844584 chr18:6844571-6844584 chr18:6844571-6844584 chr18:6844573-6844582 chr18:6844571-6844582 chr18:6844573-6844582 chr18:6844573-6844582 chr18:6844474-6844487 chr18:6844573-6844582
2	CEBPB	chr18:6844420-6844654	HepG2	liver:	n/a	chr18:6844573-6844584 chr18:6844571-6844584 chr18:6844571-6844584 chr18:6844573-6844582 chr18:6844571-6844582 chr18:6844573-6844582 chr18:6844573-6844582 chr18:6844474-6844487 chr18:6844573-6844582
3	POLR2A	chr18:6843008-6843657	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr18:6844513-6844713	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr18:6846512-6846884	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:6846576-6846768	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr18:6842578-6843973	H1-neurons	neurons:	n/a	n/a
8	REST	chr18:6843093-6843737	H1-neurons	neurons:	n/a	n/a
9	STAT3	chr18:6844621-6844669	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:6834903..6836491-chr18:6842166..6845111,2	K562	blood:

Variant related genes	Relation type
ARHGAP28	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7505956	chr18:6843528-6843529	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7506723	chr18:6843529-6843530	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552144211	chr18:6843593-6843594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565111008	chr18:6843653-6843654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550690526	chr18:6843688-6843689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557549949	chr18:6843744-6843745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72876543	chr18:6843796-6843797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546481774	chr18:6843803-6843804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139923312	chr18:6843805-6843806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74346946	chr18:6843872-6843873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536346785	chr18:6843876-6843877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546347286	chr18:6843906-6843907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377664347	chr18:6843951-6843952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56923758	chr18:6843952-6843953	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145428909	chr18:6843964-6843965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147702985	chr18:6843977-6843978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575117917	chr18:6843989-6843990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12608382	chr18:6844024-6844025	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558873608	chr18:6844107-6844108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577349563	chr18:6844128-6844129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373566207	chr18:6844143-6844144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193020353	chr18:6844146-6844147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574427736	chr18:6844272-6844273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540341846	chr18:6844281-6844282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185202789	chr18:6844307-6844308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375104187	chr18:6844327-6844328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573504792	chr18:6844344-6844345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545699327	chr18:6844465-6844466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139796599	chr18:6844494-6844495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531131245	chr18:6844502-6844503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550903284	chr18:6844503-6844504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561132533	chr18:6844570-6844571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368141875	chr18:6844591-6844592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77609067	chr18:6844607-6844608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189704663	chr18:6844613-6844614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566311137	chr18:6844652-6844653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538481632	chr18:6844676-6844677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552105779	chr18:6844680-6844681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569107473	chr18:6844695-6844696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537754670	chr18:6844704-6844705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554509541	chr18:6844742-6844743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574527801	chr18:6844764-6844765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537763580	chr18:6844784-6844785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75920215	chr18:6844791-6844792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577028670	chr18:6844854-6844855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116407381	chr18:6844884-6844885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532936601	chr18:6844890-6844891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181349624	chr18:6844891-6844892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575851538	chr18:6844925-6844926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544616973	chr18:6845016-6845017	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:40 , 50 per page) page: 1

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	chr18:6836400-6846000	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:6836600-6850600	Weak transcription	Placenta	Placenta
14	chr18:6836600-6851600	Weak transcription	Fetal Brain Male	brain
15	chr18:6836600-6854600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:6836600-6854600	Weak transcription	Gastric	stomach
17	chr18:6837400-6855600	Weak transcription	Psoas Muscle	Psoas
18	chr18:6837600-6860600	Weak transcription	HSMMtube	muscle
19	chr18:6838400-6851000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr18:6838600-6851000	Weak transcription	Fetal Kidney	kidney
21	chr18:6839200-6843800	Weak transcription	Left Ventricle	heart
22	chr18:6839400-6846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:6841400-6851000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:6841800-6843600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:6842200-6843800	Strong transcription	Fetal Lung	lung
26	chr18:6842400-6849600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:6842600-6845400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:6842800-6850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr18:6842800-6851000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:6843400-6843600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr18:6843400-6843600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:6843600-6844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr18:6843600-6850600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:6843800-6844600	Weak transcription	Fetal Lung	lung
35	chr18:6844600-6851800	Strong transcription	Fetal Lung	lung
36	chr18:6844800-6848600	Weak transcription	Lung	lung
37	chr18:6845400-6848200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:6846000-6847000	Strong transcription	Fetal Muscle Leg	muscle
39	chr18:6846000-6849200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:6846200-6855000	Weak transcription	H9 Cell Line	embryonic stem cell

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