Variant report

Variant	nsv85534
Chromosome Location	chr14:31397162-31399160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31398507..31401730-chr14:31402844..31406226,4	K562	blood:
2	chr14:31397468..31399701-chr14:31410285..31412729,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547777395	chr14:31397202-31397203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548211805	chr14:31397213-31397214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564534265	chr14:31397234-31397235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149359852	chr14:31397325-31397326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185365229	chr14:31397330-31397331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138900761	chr14:31397345-31397346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149002932	chr14:31397361-31397362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189774552	chr14:31397409-31397410	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539217301	chr14:31397467-31397468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111656410	chr14:31397476-31397477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572698174	chr14:31397531-31397532	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34222469	chr14:31397606-31397607	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397723356	chr14:31397610-31397611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183372678	chr14:31397745-31397746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139640534	chr14:31397747-31397748	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554975425	chr14:31397826-31397827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187961017	chr14:31397828-31397829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116813412	chr14:31397844-31397845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117930043	chr14:31397900-31397901	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74040953	chr14:31397944-31397945	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566606364	chr14:31398028-31398029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528495440	chr14:31398042-31398043	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2295129	chr14:31398074-31398075	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371662812	chr14:31398078-31398079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376230419	chr14:31398079-31398080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397840113	chr14:31398081-31398082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148192504	chr14:31398101-31398102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529852531	chr14:31398110-31398111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548453429	chr14:31398138-31398139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563480668	chr14:31398154-31398155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531707881	chr14:31398176-31398177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368780341	chr14:31398202-31398203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550232624	chr14:31398205-31398206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183468262	chr14:31398234-31398235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187212770	chr14:31398240-31398241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559602007	chr14:31398254-31398255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539105290	chr14:31398262-31398263	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557615766	chr14:31398285-31398286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547913389	chr14:31398311-31398312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566234704	chr14:31398344-31398345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536488966	chr14:31398347-31398348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569430655	chr14:31398367-31398368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373986867	chr14:31398381-31398382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555242484	chr14:31398406-31398407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200756761	chr14:31398430-31398431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369613932	chr14:31398445-31398446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142720956	chr14:31398447-31398448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192590593	chr14:31398465-31398466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370762206	chr14:31398486-31398487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147355138	chr14:31398496-31398497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
3	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
5	chr14:31360200-31435600	Weak transcription	Gastric	stomach
6	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
8	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
10	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
12	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
14	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
15	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
17	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
20	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
21	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
29	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
31	chr14:31380600-31402600	Weak transcription	HMEC	breast
32	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
35	chr14:31381400-31402200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:31381400-31402200	Weak transcription	Fetal Thymus	thymus
37	chr14:31381400-31402200	Weak transcription	Left Ventricle	heart
38	chr14:31381400-31402200	Weak transcription	Ovary	ovary
39	chr14:31381400-31403200	Weak transcription	Primary T cells from cord blood	blood
40	chr14:31381400-31403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:31381400-31403200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:31381400-31403200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:31381400-31403200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:31381400-31403800	Weak transcription	HSMMtube	muscle
45	chr14:31381400-31404400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:31381400-31404600	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31381400-31414600	Weak transcription	NHLF	lung
48	chr14:31381400-31416600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:31381600-31402200	Weak transcription	Placenta	Placenta
50	chr14:31381600-31403200	Weak transcription	HSMM	muscle

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