Variant report

Variant	nsv432856
Chromosome Location	chr6:25468825-25494666
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:25464807..25467519-chr6:25471141..25473111,2	MCF-7	breast:
2	chr6:25462943..25465135-chr6:25475853..25477615,2	K562	blood:
3	chr6:25223441..25224407-chr6:25489990..25490901,3	MCF-7	breast:
4	chr6:25466796..25469622-chr6:25470987..25473848,2	MCF-7	breast:
5	chr6:25265792..25266348-chr6:25490241..25490927,2	K562	blood:
6	chr6:25470386..25472033-chr6:25472485..25474818,2	MCF-7	breast:
7	chr6:25223414..25224084-chr6:25490024..25490742,2	K562	blood:
8	chr6:25490544..25491053-chr6:25602310..25603153,2	MCF-7	breast:
9	chr6:25264842..25266503-chr6:25491535..25493779,2	MCF-7	breast:
10	chr6:25278919..25279671-chr6:25490027..25490915,3	MCF-7	breast:
11	chr6:25476026..25478475-chr6:25483367..25486041,2	MCF-7	breast:
12	chr6:25279239..25281639-chr6:25489132..25491535,2	MCF-7	breast:
13	chr6:25468070..25469574-chr6:25473193..25475636,2	K562	blood:
14	chr6:25471228..25473427-chr6:25475104..25477874,2	K562	blood:
15	chr6:25265686..25266899-chr6:25490019..25490918,5	MCF-7	breast:
16	chr6:25468160..25469705-chr6:25476954..25478561,2	K562	blood:
17	chr6:25468074..25470754-chr6:25473193..25474888,2	K562	blood:
18	chr6:25223811..25224359-chr6:25489995..25490562,2	MCF-7	breast:
19	chr6:25468074..25470754-chr6:25473193..25474888,2	K562	blood:
20	chr6:25466796..25469622-chr6:25470987..25473848,2	MCF-7	breast:
21	chr6:25476412..25479313-chr6:25584126..25586131,2	MCF-7	breast:
22	chr6:25471739..25473870-chr6:25485448..25487878,2	MCF-7	breast:
23	chr6:25471228..25473427-chr6:25475104..25477874,2	K562	blood:
24	chr6:25468070..25469574-chr6:25473193..25475636,2	K562	blood:
25	chr6:25476026..25478475-chr6:25483367..25486041,2	MCF-7	breast:
26	chr6:25266298..25266998-chr6:25489707..25490300,2	MCF-7	breast:
27	chr6:25461549..25464417-chr6:25470199..25472256,2	K562	blood:
28	chr6:25468160..25469705-chr6:25476954..25478561,2	K562	blood:
29	chr6:25490597..25491234-chr6:25602332..25603317,2	K562	blood:
30	chr6:25470386..25472033-chr6:25472485..25474818,2	MCF-7	breast:
31	chr6:25471739..25473870-chr6:25485448..25487878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079691	chromatin interactions

Extended variants
information (count: 959 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2769703	chr6:25468825-25468826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553708129	chr6:25468833-25468834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562814620	chr6:25468886-25468887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531801983	chr6:25468962-25468963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572108494	chr6:25468991-25468992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145657478	chr6:25468993-25468994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572731422	chr6:25469014-25469015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534300846	chr6:25469044-25469045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529792280	chr6:25469072-25469073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74525527	chr6:25469120-25469121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192076790	chr6:25469132-25469133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532329351	chr6:25469183-25469184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530044863	chr6:25469184-25469185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146514674	chr6:25469186-25469187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116720406	chr6:25469227-25469228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149124714	chr6:25469271-25469272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16890640	chr6:25469331-25469332	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143189501	chr6:25469378-25469379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557780489	chr6:25469502-25469503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371194331	chr6:25469605-25469606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534291486	chr6:25469634-25469635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs399930	chr6:25469662-25469663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561336698	chr6:25469708-25469709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35847233	chr6:25469758-25469759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35568793	chr6:25469760-25469761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71555198	chr6:25469795-25469796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577146561	chr6:25469810-25469811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545843648	chr6:25469854-25469855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556448319	chr6:25469861-25469862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148237210	chr6:25469939-25469940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112169301	chr6:25470028-25470029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150317734	chr6:25470097-25470098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529783429	chr6:25470105-25470106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184839455	chr6:25470113-25470114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559960622	chr6:25470157-25470158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532152664	chr6:25470189-25470190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552164554	chr6:25470239-25470240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4712942	chr6:25470247-25470248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577624809	chr6:25470249-25470250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114343309	chr6:25470268-25470269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568231805	chr6:25470269-25470270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534061916	chr6:25470285-25470286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138044728	chr6:25470286-25470287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554256142	chr6:25470295-25470296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140080889	chr6:25470317-25470318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570816852	chr6:25470344-25470345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143406186	chr6:25470426-25470427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571186710	chr6:25470431-25470432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556134095	chr6:25470471-25470472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371323742	chr6:25470554-25470555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25433400-25472600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:25436200-25481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:25438200-25472600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:25443200-25472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:25446800-25493600	Weak transcription	Left Ventricle	heart
6	chr6:25446800-25504400	Weak transcription	Primary B cells from cord blood	blood
7	chr6:25447400-25473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:25448200-25472600	Weak transcription	Pancreas	Pancrea
9	chr6:25449400-25515800	Weak transcription	Lung	lung
10	chr6:25450400-25488400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:25452200-25473000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:25452400-25476000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:25454200-25472800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:25455800-25476000	Weak transcription	Aorta	Aorta
15	chr6:25456400-25499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:25456400-25515800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:25456400-25537000	Weak transcription	Esophagus	oesophagus
18	chr6:25459000-25473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:25459800-25471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:25460200-25472000	Weak transcription	HMEC	breast
21	chr6:25460200-25476000	Weak transcription	NHEK	skin
22	chr6:25461800-25469200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:25462800-25477600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:25463000-25472600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:25463000-25474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:25463000-25476000	Weak transcription	HSMMtube	muscle
27	chr6:25463000-25490000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:25463200-25473000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:25463200-25481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:25463200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:25463800-25487400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:25464000-25498800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:25464200-25518400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:25464600-25473000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:25464800-25472600	Weak transcription	Fetal Thymus	thymus
36	chr6:25464800-25472600	Weak transcription	Thymus	Thymus
37	chr6:25464800-25475000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:25464800-25490000	Weak transcription	Hela-S3	cervix
39	chr6:25465000-25482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:25465200-25472800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:25465200-25476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:25465400-25470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:25465400-25472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:25465400-25472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:25465400-25476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:25465400-25499000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:25465600-25473000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:25466200-25476400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:25466400-25516000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:25466600-25469000	Enhancers	Fetal Lung	lung

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