Variant report

Variant	nsv602951
Chromosome Location	chr6:36706157-36719079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36717988..36719917-chr6:36723476..36726910,3	MCF-7	breast:
2	chr6:36588827..36591407-chr6:36708568..36710825,2	MCF-7	breast:
3	chr6:36646077..36648615-chr6:36711852..36713395,2	K562	blood:
4	chr6:36704975..36706910-chr6:36710272..36712382,2	MCF-7	breast:
5	chr6:36577343..36580259-chr6:36718203..36721182,2	MCF-7	breast:
6	chr6:36572662..36574979-chr6:36718444..36721087,2	K562	blood:
7	chr6:36708918..36710565-chr6:36712727..36715586,2	K562	blood:
8	chr6:36716404..36719581-chr6:36720288..36722523,3	MCF-7	breast:
9	chr6:36714240..36716919-chr6:36719945..36722727,5	MCF-7	breast:
10	chr6:36706267..36708533-chr6:36712946..36714916,2	K562	blood:
11	chr6:36635018..36637044-chr6:36710933..36713268,2	K562	blood:
12	chr6:36646178..36648267-chr6:36708912..36712169,4	MCF-7	breast:
13	chr6:36710180..36712510-chr6:36716987..36718768,2	K562	blood:
14	chr6:36708174..36711394-chr6:36720287..36721932,3	MCF-7	breast:
15	chr6:36703852..36706817-chr6:36717625..36719969,2	K562	blood:
16	chr6:36705103..36707775-chr6:36711430..36713266,2	MCF-7	breast:
17	chr6:36561092..36562918-chr6:36718882..36720382,2	MCF-7	breast:
18	chr6:36706145..36708888-chr6:36709331..36711123,2	MCF-7	breast:
19	chr6:36681851..36683948-chr6:36705203..36707828,2	K562	blood:
20	chr6:36708140..36710606-chr6:36718569..36720077,2	MCF-7	breast:
21	chr6:36575316..36577688-chr6:36710838..36712742,2	K562	blood:
22	chr6:36671517..36673727-chr6:36709746..36712131,2	K562	blood:
23	chr6:36717692..36718483-chr6:36726667..36727520,2	K562	blood:
24	chr6:36705103..36707775-chr6:36711430..36713266,2	MCF-7	breast:
25	chr6:36563235..36565666-chr6:36712198..36714107,2	K562	blood:
26	chr6:36658059..36660618-chr6:36709664..36711830,2	MCF-7	breast:
27	chr6:36706145..36708888-chr6:36709331..36711123,2	MCF-7	breast:
28	chr6:36711266..36713245-chr6:36715954..36717794,2	MCF-7	breast:
29	chr6:36711266..36713245-chr6:36715954..36717794,2	MCF-7	breast:
30	chr6:36706267..36708533-chr6:36712946..36714916,2	K562	blood:
31	chr6:36682976..36685028-chr6:36712488..36714251,2	MCF-7	breast:
32	chr6:36710180..36712510-chr6:36716987..36718768,2	K562	blood:
33	chr6:36564984..36567276-chr6:36718585..36720409,2	K562	blood:
34	chr6:36713858..36716285-chr6:36724983..36726678,2	MCF-7	breast:
35	chr6:36645227..36647717-chr6:36711034..36713028,2	K562	blood:
36	chr6:36704975..36706910-chr6:36710272..36712382,2	MCF-7	breast:
37	chr6:36705988..36708979-chr6:36709402..36712073,2	K562	blood:
38	chr6:36705988..36708979-chr6:36709402..36712073,2	K562	blood:
39	chr6:36710588..36713306-chr6:36722738..36724865,2	MCF-7	breast:
40	chr6:36708140..36710606-chr6:36718569..36720077,2	MCF-7	breast:
41	chr6:36708918..36710565-chr6:36712727..36715586,2	K562	blood:
42	chr6:36706791..36710785-chr6:36712838..36716064,4	MCF-7	breast:
43	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
44	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
45	chr6:36706791..36710785-chr6:36712838..36716064,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220349	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000263894	chromatin interactions
ENSG00000124762	chromatin interactions
ENSG00000124772	chromatin interactions
ENSG00000255587	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12196180	chr6:36706157-36706158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182780146	chr6:36706235-36706236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562802797	chr6:36706279-36706280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533593508	chr6:36706314-36706315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551713845	chr6:36706331-36706332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371313710	chr6:36706332-36706333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541017696	chr6:36706366-36706367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145129609	chr6:36706373-36706374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549496423	chr6:36706433-36706434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375038526	chr6:36706489-36706490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567667580	chr6:36706490-36706491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538201449	chr6:36706492-36706493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556512011	chr6:36706503-36706504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75750123	chr6:36706594-36706595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372013692	chr6:36706725-36706726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538904115	chr6:36706762-36706763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553719866	chr6:36706771-36706772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376554914	chr6:36706776-36706777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187145344	chr6:36706777-36706778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542363262	chr6:36706799-36706800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs70975180	chr6:36706814-36706815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76012884	chr6:36706815-36706816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs397761483	chr6:36706816-36706817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554200214	chr6:36706832-36706833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369481443	chr6:36706919-36706920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564159734	chr6:36706927-36706928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147576478	chr6:36706957-36706958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542981068	chr6:36706966-36706967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75468091	chr6:36706996-36706997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533487771	chr6:36707012-36707013	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545671412	chr6:36707035-36707036	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114580574	chr6:36707037-36707038	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527839772	chr6:36707047-36707048	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11961424	chr6:36707058-36707059	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567727940	chr6:36707126-36707127	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115487836	chr6:36707186-36707187	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550228408	chr6:36707335-36707336	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571601439	chr6:36707364-36707365	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140306548	chr6:36707391-36707392	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375705626	chr6:36707397-36707398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368985751	chr6:36707413-36707414	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9470385	chr6:36707418-36707419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs192985964	chr6:36707438-36707439	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185327958	chr6:36707500-36707501	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6904294	chr6:36707501-36707502	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575759242	chr6:36707512-36707513	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543095507	chr6:36707566-36707567	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533215900	chr6:36707584-36707585	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188195761	chr6:36707597-36707598	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs193277489	chr6:36707598-36707599	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36703400-36706800	Enhancers	Fetal Muscle Leg	muscle
2	chr6:36703400-36707000	Weak transcription	Gastric	stomach
3	chr6:36703400-36710200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:36703400-36718000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:36703600-36709000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:36703800-36706800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:36703800-36711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:36703800-36712800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:36703800-36718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:36704000-36706800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:36704000-36707000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:36704000-36707600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:36704000-36707600	Weak transcription	Osteobl	bone
14	chr6:36704000-36708000	Weak transcription	Colonic Mucosa	Colon
15	chr6:36704000-36708800	Weak transcription	Fetal Intestine Small	intestine
16	chr6:36704000-36709200	Weak transcription	Esophagus	oesophagus
17	chr6:36704000-36709400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:36704000-36709800	Weak transcription	Fetal Stomach	stomach
19	chr6:36704000-36711600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:36704000-36711800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:36704000-36712600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:36704000-36718000	Weak transcription	Right Atrium	heart
23	chr6:36704000-36720400	Weak transcription	Right Ventricle	heart
24	chr6:36704200-36706800	Weak transcription	HUVEC	blood vessel
25	chr6:36704200-36706800	Weak transcription	NHDF-Ad	bronchial
26	chr6:36704200-36707400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:36704200-36707600	Weak transcription	NHLF	lung
28	chr6:36704200-36709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:36704200-36709400	Weak transcription	Stomach Mucosa	stomach
30	chr6:36704200-36710200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:36704200-36711800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:36704800-36707600	Enhancers	Primary B cells from peripheral blood	blood
33	chr6:36705200-36707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:36705400-36706600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:36705600-36707200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:36705600-36707400	Weak transcription	Spleen	Spleen
37	chr6:36705600-36710000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:36706600-36708800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:36706800-36707800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:36706800-36708000	Enhancers	NHDF-Ad	bronchial
41	chr6:36706800-36708200	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:36706800-36709400	Enhancers	HUVEC	blood vessel
43	chr6:36707000-36707200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:36707000-36707200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:36707000-36707600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:36707000-36707600	Enhancers	Gastric	stomach
47	chr6:36707000-36708400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:36707000-36709200	Enhancers	Adipose Nuclei	Adipose
49	chr6:36707200-36708200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:36707200-36709600	Enhancers	Primary B cells from cord blood	blood

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