Variant report

Variant	nsv518538
Chromosome Location	chr6:30983326-30991559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30781714..30783791-chr6:30982862..30984438,2	K562	blood:
2	chr6:30989389..30991180-chr6:30994181..30996114,2	K562	blood:
3	chr6:26026654..26028309-chr6:30981430..30984025,2	K562	blood:
4	chr6:30975520..30978451-chr6:30989094..30991003,2	K562	blood:
5	chr6:30971805..30974320-chr6:30984460..30987060,2	K562	blood:
6	chr6:30990191..30992901-chr6:31003159..31005249,2	K562	blood:

Variant related genes	Relation type
ENSG00000261272	chromatin interactions
ENSG00000124529	chromatin interactions

Extended variants
information (count: 606 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1619376	chr6:30983326-30983327	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28360980	chr6:30983348-30983349	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114576318	chr6:30983362-30983363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9262468	chr6:30983417-30983418	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536784700	chr6:30983478-30983479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558297385	chr6:30983479-30983480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3871465	chr6:30983504-30983505	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541275380	chr6:30983524-30983525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs28360981	chr6:30983581-30983582	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574715036	chr6:30983618-30983619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35073882	chr6:30983640-30983641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373206425	chr6:30983647-30983648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116559107	chr6:30983665-30983666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3871466	chr6:30983683-30983684	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs58389965	chr6:30983692-30983693	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148105221	chr6:30983778-30983779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201051754	chr6:30983789-30983790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560791400	chr6:30983847-30983848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377185834	chr6:30983848-30983849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201671230	chr6:30983858-30983859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73727156	chr6:30983865-30983866	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201494313	chr6:30983869-30983870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56183784	chr6:30983895-30983896	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs28993413	chr6:30983910-30983911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374309527	chr6:30983921-30983922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573384796	chr6:30983923-30983924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568658072	chr6:30983948-30983949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568715850	chr6:30983952-30983953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529622130	chr6:30984014-30984015	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540722102	chr6:30984016-30984017	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547768805	chr6:30984037-30984038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73395840	chr6:30984078-30984079	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553366205	chr6:30984099-30984100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536723146	chr6:30984125-30984126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7776233	chr6:30984128-30984129	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142977195	chr6:30984145-30984146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534511424	chr6:30984161-30984162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192966076	chr6:30984241-30984242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377460701	chr6:30984260-30984261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574621122	chr6:30984281-30984282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13190971	chr6:30984319-30984320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372220195	chr6:30984323-30984324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13206688	chr6:30984341-30984342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542176938	chr6:30984346-30984347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564307080	chr6:30984380-30984381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3869096	chr6:30984404-30984405	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs9262470	chr6:30984422-30984423	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116137250	chr6:30984425-30984426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59723032	chr6:30984426-30984427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60138183	chr6:30984436-30984437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
2	chr6:30984000-30985000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30986000-30986200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30987800-30988400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:30988000-30988200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr6:30988000-30988400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:30988200-30988400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:30988200-30988400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:30988200-30988400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:30988200-30988600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:30988200-30988600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:30988200-30988600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:30988400-30988800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:30988400-30988800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr6:30988400-30988800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:30988400-30988800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:30988400-30989000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:30988600-30988800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:30988600-30988800	Bivalent Enhancer	Esophagus	oesophagus
20	chr6:30988600-30989000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:30988800-30989000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:30989000-30993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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