Variant report

Variant	nsv970102
Chromosome Location	chr6:29712775-29713579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29712877-29712927	HCT-116	colon:	n/a
2	chr6:29713436-29713486	IMR90	lung:	fetal
3	chr6:29713436-29713486	CMK	blood:	n/a
4	chr6:29713436-29713486	Jurkat	blood:	n/a
5	chr6:29713436-29713486	HMEC	breast:	n/a
6	chr6:29712877-29712927	AG04449	skin:	fetal
7	chr6:29713436-29713486	HepG2	liver:	n/a
8	chr6:29712877-29712927	A549	lung:	n/a
9	chr6:29712877-29712927	HL-60	blood:	n/a
10	chr6:29713436-29713486	HCT-116	colon:	n/a
11	chr6:29713436-29713486	SK-N-MC	brain:	n/a
12	chr6:29712877-29712927	H1-hESC	embryonic stem cell:	embryo
13	chr6:29713436-29713486	PrEC	prostate:	n/a
14	chr6:29713436-29713486	PFSK-1	brain:	n/a
15	chr6:29713436-29713486	AG10803	skin:	n/a
16	chr6:29713436-29713486	HCF	heart:	n/a
17	chr6:29713436-29713486	HRCEpiC	kidney:	n/a
18	chr6:29712877-29712927	HAEpiC	amniotic membrane:	n/a
19	chr6:29713436-29713486	ovcar-3	ovarian:	n/a
20	chr6:29712877-29712927	Jurkat	blood:	n/a
21	chr6:29712877-29712927	SK-N-MC	brain:	n/a
22	chr6:29713436-29713486	ECC-1	luminal epithelium:	n/a
23	chr6:29712877-29712927	NB4	blood:	n/a
24	chr6:29713436-29713486	GM12891	blood:	n/a
25	chr6:29712877-29712927	HRCEpiC	kidney:	n/a
26	chr6:29712877-29712927	PrEC	prostate:	n/a
27	chr6:29713436-29713486	GM19239	blood:	n/a
28	chr6:29712877-29712927	HRPEpiC	eye:	n/a
29	chr6:29713436-29713486	AG09319	gingival:	n/a
30	chr6:29713436-29713486	Caco-2	colon:	n/a
31	chr6:29713436-29713486	AG09309	skin:	n/a
32	chr6:29713436-29713486	HCM	heart:	n/a
33	chr6:29712877-29712927	ovcar-3	ovarian:	n/a
34	chr6:29713436-29713486	HUVEC	blood vessel:	n/a
35	chr6:29713436-29713486	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:29713436-29713486	U87	brain:	n/a
37	chr6:29712877-29712927	ProgFib	skin:	n/a
38	chr6:29713436-29713486	GM12878	blood:	n/a
39	chr6:29713436-29713486	GM06990	blood:	n/a
40	chr6:29712877-29712927	HCF	heart:	n/a
41	chr6:29712877-29712927	HCM	heart:	n/a
42	chr6:29713436-29713486	HEK293	kidney:	embryo
43	chr6:29712877-29712927	HMEC	breast:	n/a
44	chr6:29713436-29713486	HEEpiC	esophagus:	n/a
45	chr6:29713436-29713486	Hela-S3	cervix:	n/a
46	chr6:29713436-29713486	BE2_C	brain:	n/a
47	chr6:29713436-29713486	HL-60	blood:	n/a
48	chr6:29713436-29713486	AG04449	skin:	fetal
49	chr6:29712877-29712927	SKMC	muscle:	n/a
50	chr6:29713436-29713486	ProgFib	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29713370..29715869-chr6:29729277..29731286,2	MCF-7	breast:
2	chr6:29712707..29714647-chr6:29717488..29720857,3	K562	blood:
3	chr6:29707158..29708968-chr6:29712786..29714883,2	K562	blood:
4	chr6:29710008..29711886-chr6:29712365..29714063,2	K562	blood:
5	chr6:29712194..29714049-chr6:29781280..29783856,2	K562	blood:
6	chr6:29704423..29706634-chr6:29713030..29715317,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP57-7	chr6:29713250-29713504	ENSG00000214922.3
2	lnc-ZFP57-7	chr6:29713250-29713504	NONHSAT108548
3	lnc-ZFP57-7	chr6:29712727-29713011	NONHSAT108548

No data

Variant related genes	Relation type
ENSG00000199290	CpG island
HCG9P5	CpG island
ENSG00000272236	chromatin interactions
ENSG00000214922	chromatin interactions
ENSG00000199290	chromatin interactions
ENSG00000270896	chromatin interactions
ENSG00000235821	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529206777	chr6:29712776-29712777	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs542192134	chr6:29712796-29712797	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs558968900	chr6:29712797-29712798	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs141281218	chr6:29712817-29712818	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs146981934	chr6:29712838-29712839	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs540201123	chr6:29712850-29712851	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs1633091	chr6:29712866-29712867	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs116444931	chr6:29712878-29712879	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs148043172	chr6:29712907-29712908	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs118141190	chr6:29712913-29712914	Weak transcription Enhancers Strong transcription Genic enhancers	CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs538988167	chr6:29712985-29712986	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs9258226	chr6:29712987-29712988	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs185580610	chr6:29712991-29712992	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs535020814	chr6:29712998-29712999	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs558204606	chr6:29713025-29713026	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2072894	chr6:29713036-29713037	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs114790729	chr6:29713054-29713055	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs9468600	chr6:29713058-29713059	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191124978	chr6:29713066-29713067	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559230550	chr6:29713086-29713087	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs111453592	chr6:29713122-29713123	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs9258227	chr6:29713155-29713156	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs182970654	chr6:29713196-29713197	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs187579844	chr6:29713201-29713202	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs369860265	chr6:29713216-29713217	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs1633090	chr6:29713273-29713274	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150581743	chr6:29713278-29713279	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs138655318	chr6:29713308-29713309	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs141913243	chr6:29713328-29713329	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs549652197	chr6:29713369-29713370	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs371757929	chr6:29713370-29713371	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
32	rs58121457	chr6:29713414-29713415	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2076174	chr6:29713429-29713430	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571691419	chr6:29713436-29713437	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs1633089	chr6:29713465-29713466	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557107151	chr6:29713499-29713500	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs573459834	chr6:29713514-29713515	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs536038978	chr6:29713539-29713540	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:29692400-29715800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:29693400-29715600	Weak transcription	Esophagus	oesophagus
4	chr6:29693600-29715600	Weak transcription	NHLF	lung
5	chr6:29693800-29715400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:29693800-29716000	Weak transcription	Small Intestine	intestine
7	chr6:29694000-29715600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:29696000-29715600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:29696000-29715600	Weak transcription	Ovary	ovary
10	chr6:29696200-29715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:29696200-29715600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:29696200-29715600	Weak transcription	Liver	Liver
13	chr6:29696400-29715400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:29696600-29715600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:29696800-29714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:29696800-29715800	Weak transcription	Colonic Mucosa	Colon
17	chr6:29700000-29715200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:29702400-29715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:29702600-29715400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:29702800-29712800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:29702800-29713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:29702800-29715400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:29702800-29715600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:29706000-29715400	Weak transcription	Right Atrium	heart
25	chr6:29706000-29715800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:29706800-29715800	Weak transcription	NHDF-Ad	bronchial
27	chr6:29707400-29713000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:29707600-29715400	Weak transcription	NHEK	skin
29	chr6:29708800-29713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:29709800-29714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:29709800-29715400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:29710800-29713200	Strong transcription	Lung	lung
33	chr6:29711200-29712800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:29711200-29713000	Strong transcription	Right Ventricle	heart
35	chr6:29711200-29713600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:29711200-29715200	Weak transcription	HMEC	breast
37	chr6:29711400-29713000	Strong transcription	Gastric	stomach
38	chr6:29711400-29713400	Strong transcription	Pancreas	Pancrea
39	chr6:29711400-29713600	Strong transcription	Spleen	Spleen
40	chr6:29711400-29713800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:29711600-29713000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr6:29711800-29713400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:29712000-29713200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:29712000-29714000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:29712200-29712800	Strong transcription	Aorta	Aorta
46	chr6:29712400-29713400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:29712400-29713800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:29712400-29715400	Weak transcription	Left Ventricle	heart
49	chr6:29712400-29715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:29712400-29715600	Weak transcription	Monocytes-CD14+_RO01746	blood

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