Variant report

Variant	nsv978599
Chromosome Location	chr18:9522156-9522656
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	FOXA1	chr18:9521796-9522196	HepG2	liver:	n/a	n/a
2	FOXA2	chr18:9522564-9522835	HepG2	liver:	n/a	n/a
3	FOXA2	chr18:9521832-9522160	HepG2	liver:	n/a	n/a
4	KAP1	chr18:9522266-9522862	U2OS	brain:	n/a	n/a
5	POLR2A	chr18:9522524-9522544	HepG2	liver:	n/a	n/a
6	POLR2A	chr18:9522496-9522521	HepG2	liver:	n/a	n/a
7	SETDB1	chr18:9521786-9522322	U2OS	brain:	n/a	n/a
8	TCF7L2	chr18:9522552-9522935	HepG2	liver:	n/a	chr18:9522727-9522736
9	TCF7L2	chr18:9522341-9523305	HEK293	kidney:	n/a	chr18:9523206-9523215 chr18:9522727-9522736
10	ZNF263	chr18:9521958-9524049	HEK293-T-REx	kidney:	n/a	chr18:9522777-9522786

No.	Distal block	Cell Line	Cell type
1	chr18:9518087..9520261-chr18:9521010..9523550,2	K562	blood:
2	chr18:9516467..9518987-chr18:9520554..9522788,2	MCF-7	breast:
3	chr18:9515412..9517227-chr18:9520655..9522238,2	K562	blood:

Variant related genes	Relation type
RNU2-27P	TF binding region
ENSG00000273352	chromatin interactions
ENSG00000251994	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112113600	chr18:9522195-9522196	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374765771	chr18:9522198-9522199	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368700058	chr18:9522214-9522215	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368845774	chr18:9522227-9522228	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373416081	chr18:9522283-9522284	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375926697	chr18:9522295-9522296	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs142799309	chr18:9522304-9522305	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs537083100	chr18:9522307-9522308	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201106324	chr18:9522318-9522319	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs528466267	chr18:9522338-9522339	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558924426	chr18:9522344-9522345	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146546064	chr18:9522417-9522418	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140099378	chr18:9522418-9522419	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs143680866	chr18:9522419-9522420	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs146856822	chr18:9522420-9522421	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs367736049	chr18:9522435-9522436	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs577133248	chr18:9522484-9522485	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534986323	chr18:9522531-9522532	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs553207119	chr18:9522534-9522535	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs74347559	chr18:9522535-9522536	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs329007	chr18:9522606-9522607	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs530762466	chr18:9522629-9522630	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs192464425	chr18:9522638-9522639	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
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
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
2	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
3	chr18:9479000-9533600	Weak transcription	Gastric	stomach
4	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
6	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
7	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
10	chr18:9498400-9523200	Weak transcription	Esophagus	oesophagus
11	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
13	chr18:9505200-9524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:9506400-9522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
16	chr18:9508000-9522400	Weak transcription	Lung	lung
17	chr18:9508000-9522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:9508400-9522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:9508400-9522400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:9508600-9525200	Weak transcription	Brain Germinal Matrix	brain
22	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
23	chr18:9509000-9522200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:9510800-9522200	Weak transcription	Fetal Lung	lung
25	chr18:9512200-9524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9512800-9524400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:9513200-9524600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:9513200-9526600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:9513200-9534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
31	chr18:9514200-9522200	Weak transcription	Fetal Intestine Small	intestine
32	chr18:9514200-9522400	Weak transcription	HSMMtube	muscle
33	chr18:9514200-9523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:9514400-9522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:9514400-9524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9514600-9524600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:9514600-9528800	Weak transcription	NH-A	brain
38	chr18:9514600-9530200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:9515600-9526800	Weak transcription	A549	lung
40	chr18:9515800-9522400	Weak transcription	Fetal Kidney	kidney
41	chr18:9516200-9526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:9516600-9522400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:9517400-9523600	Weak transcription	Osteobl	bone
44	chr18:9517600-9522200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:9517600-9524400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:9517600-9526400	Weak transcription	Brain Anterior Caudate	brain
47	chr18:9517800-9534000	Weak transcription	NHLF	lung
48	chr18:9518200-9522200	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:9518200-9522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:9518200-9522400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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