Variant report

Variant	nsv5257
Chromosome Location	chr6:34925313-34970101
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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:34927133..34929611-chr6:34935086..34937533,2	K562	blood:
2	chr6:34940870..34943018-chr6:34943935..34946831,3	K562	blood:
3	chr15:91446501..91447001-chr6:34954264..34955087,2	HCT-116	colon:
4	chr6:34953914..34956313-chr6:34963882..34965683,2	MCF-7	breast:
5	chr6:34951228..34953386-chr6:35100588..35103332,2	K562	blood:
6	chr6:34943502..34945906-chr6:34947769..34950337,3	K562	blood:
7	chr6:34858926..34861792-chr6:34939953..34942289,2	MCF-7	breast:
8	chr6:34951497..34953140-chr6:35208526..35210483,2	K562	blood:
9	chr6:34944718..34946235-chr6:34960421..34962888,2	K562	blood:
10	chr6:34951005..34953968-chr6:34956984..34958726,3	MCF-7	breast:
11	chr6:34857055..34859091-chr6:34938202..34940889,2	MCF-7	breast:
12	chr6:34952785..34956692-chr6:34957031..34961884,7	K562	blood:
13	chr6:34956071..34958018-chr6:34959188..34960981,2	K562	blood:
14	chr6:34836775..34838347-chr6:34941205..34942985,2	MCF-7	breast:
15	chr6:34926256..34928319-chr6:34929581..34931130,2	K562	blood:
16	chr6:34927113..34929243-chr6:34940078..34941859,2	K562	blood:
17	chr6:34954285..34955179-chr6:35208270..35209520,3	K562	blood:
18	chr6:34956071..34958018-chr6:34959188..34960981,2	K562	blood:
19	chr6:34948492..34952297-chr6:34954153..34956386,4	K562	blood:
20	chr6:34940687..34943018-chr6:34944838..34946831,2	K562	blood:
21	chr6:34952785..34956692-chr6:34957031..34961884,7	K562	blood:
22	chr6:34944718..34946235-chr6:34960421..34962888,2	K562	blood:
23	chr6:34918877..34921128-chr6:34926840..34928643,2	K562	blood:
24	chr6:34893290..34895416-chr6:34950224..34952119,2	K562	blood:
25	chr6:34854212..34855894-chr6:34947820..34949596,2	K562	blood:
26	chr6:34924286..34927204-chr6:35101773..35103995,2	K562	blood:
27	chr6:34949753..34950779-chr6:35107305..35108332,7	MCF-7	breast:
28	chr6:34951005..34953968-chr6:34956984..34958726,3	MCF-7	breast:
29	chr6:34937846..34940693-chr6:34953607..34956913,3	K562	blood:
30	chr6:34953914..34956313-chr6:34963882..34965683,2	MCF-7	breast:
31	chr6:34948492..34951112-chr6:34954153..34956114,2	K562	blood:
32	chr6:34914307..34916532-chr6:34932966..34936178,3	K562	blood:
33	chr6:34927133..34929611-chr6:34935086..34937533,2	K562	blood:
34	chr6:34947461..34949129-chr6:34952748..34955327,2	MCF-7	breast:
35	chr6:34948492..34952297-chr6:34954153..34956386,4	K562	blood:
36	chr6:34927113..34929243-chr6:34940078..34941859,2	K562	blood:
37	chr6:34954674..34955203-chr6:35172145..35173032,2	K562	blood:
38	chr6:34940687..34943018-chr6:34944838..34946831,2	K562	blood:
39	chr6:34943502..34945906-chr6:34947769..34950337,3	K562	blood:
40	chr6:34948492..34951112-chr6:34954153..34956114,2	K562	blood:
41	chr6:34954286..34954970-chr6:35107397..35108331,5	MCF-7	breast:
42	chr6:34944340..34947621-chr6:34949271..34952410,3	MCF-7	breast:
43	chr6:34954072..34954818-chr6:35208589..35209528,2	MCF-7	breast:
44	chr6:34949770..34950538-chr6:35107405..35108299,2	K562	blood:
45	chr6:34954226..34955209-chr6:35107125..35108338,9	K562	blood:
46	chr6:34968308..34970921-chr6:35006790..35009720,2	K562	blood:
47	chr6:34855008..34857070-chr6:34934227..34936137,2	K562	blood:
48	chr6:34940870..34943018-chr6:34943935..34946831,3	K562	blood:
49	chr6:34938891..34940598-chr6:35202108..35204116,2	K562	blood:
50	chr6:34926256..34928319-chr6:34929581..34931130,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264241	chromatin interactions
ENSG00000196547	chromatin interactions
ENSG00000064995	chromatin interactions
ENSG00000064999	chromatin interactions

Extended variants
information (count: 1586 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1586 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192789666	chr6:34925330-34925331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs847846	chr6:34925371-34925372	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs577140550	chr6:34925392-34925393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539989651	chr6:34925410-34925411	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183514505	chr6:34925415-34925416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145328096	chr6:34925423-34925424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375200177	chr6:34925434-34925435	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530258422	chr6:34925477-34925478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79521508	chr6:34925541-34925542	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537008699	chr6:34925542-34925543	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530577118	chr6:34925614-34925615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74438255	chr6:34925626-34925627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570436608	chr6:34925627-34925628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567159284	chr6:34925642-34925643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74749875	chr6:34925664-34925665	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137890581	chr6:34925696-34925697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142321329	chr6:34925737-34925738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187097468	chr6:34925748-34925749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191498068	chr6:34925757-34925758	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576139019	chr6:34925808-34925809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554583403	chr6:34925916-34925917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146031021	chr6:34925925-34925926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558544364	chr6:34925991-34925992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541520030	chr6:34926031-34926032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183945805	chr6:34926138-34926139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115012906	chr6:34926140-34926141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139600797	chr6:34926194-34926195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575066138	chr6:34926247-34926248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4429942	chr6:34926268-34926269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190414577	chr6:34926328-34926329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368188813	chr6:34926336-34926337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149321344	chr6:34926383-34926384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574322584	chr6:34926398-34926399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117276610	chr6:34926400-34926401	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564158014	chr6:34926403-34926404	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144573355	chr6:34926410-34926411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546573863	chr6:34926433-34926434	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568306048	chr6:34926599-34926600	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181624915	chr6:34926636-34926637	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116702560	chr6:34926674-34926675	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568675687	chr6:34926718-34926719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114601382	chr6:34926724-34926725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558653288	chr6:34926737-34926738	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34240136	chr6:34926740-34926741	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570607184	chr6:34926751-34926752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561824548	chr6:34926798-34926799	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148449759	chr6:34926817-34926818	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575032770	chr6:34926868-34926869	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553122790	chr6:34926905-34926906	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115539169	chr6:34926963-34926964	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Esophageal adenocarcinoma	18820669	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
Schizophrenia	19571808	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
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD

Chromatin state (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:34907400-34937600	Weak transcription	Dnd41	blood
7	chr6:34912400-34928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:34915800-34926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:34916800-34927800	Weak transcription	Lung	lung
10	chr6:34917200-34926800	Weak transcription	Spleen	Spleen
11	chr6:34918600-34938400	Weak transcription	Thymus	Thymus
12	chr6:34919000-34929600	Weak transcription	Fetal Kidney	kidney
13	chr6:34919600-34926400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:34919800-34937200	Weak transcription	NHEK	skin
15	chr6:34920000-34925800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:34920000-34937400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:34920000-34937400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
19	chr6:34920800-34925400	Weak transcription	Small Intestine	intestine
20	chr6:34921000-34925800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:34921200-34925600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:34921200-34925800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:34921200-34937600	Weak transcription	Aorta	Aorta
24	chr6:34921200-34949400	Weak transcription	Esophagus	oesophagus
25	chr6:34921400-34925800	Weak transcription	Placenta	Placenta
26	chr6:34921400-34927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:34921400-34937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:34921600-34926800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:34921600-34937600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:34921600-34937800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:34921600-34949400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:34921800-34938800	Weak transcription	HMEC	breast
33	chr6:34922000-34928200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
35	chr6:34922200-34932200	Weak transcription	Osteobl	bone
36	chr6:34922200-34937400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:34922400-34925400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:34922400-34926000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:34922400-34926600	Weak transcription	Right Atrium	heart
40	chr6:34922600-34925400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:34922600-34925800	Weak transcription	Fetal Intestine Large	intestine
42	chr6:34922600-34926400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:34922600-34926600	Weak transcription	Gastric	stomach
44	chr6:34922600-34927600	Weak transcription	Pancreas	Pancrea
45	chr6:34922600-34937400	Weak transcription	HepG2	liver
46	chr6:34922600-34940200	Weak transcription	A549	lung
47	chr6:34922600-34940800	Weak transcription	Stomach Mucosa	stomach
48	chr6:34922800-34937400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
50	chr6:34923400-34925800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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