Variant report

Variant	nsv981113
Chromosome Location	chr6:26405877-26408040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:26406312-26406412	GM20000	blood:	n/a	n/a
2	CTCF	chr6:26406376-26406414	GM13976	blood:	n/a	n/a
3	POLR2A	chr6:26407987-26408060	A549	lung:	n/a	n/a
4	POU2F2	chr6:26406024-26406425	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26407505-26407555	HCM	heart:	n/a
2	chr6:26407505-26407555	Hela-S3	cervix:	n/a
3	chr6:26407505-26407555	HEK293	kidney:	embryo
4	chr6:26407505-26407555	H1-hESC	embryonic stem cell:	embryo
5	chr6:26407505-26407555	AG09319	gingival:	n/a
6	chr6:26407505-26407555	HNPCEpiC	eye:	n/a
7	chr6:26407505-26407555	AG04450	lung:	fetal
8	chr6:26407505-26407555	AoSMC	blood vessel:	n/a
9	chr6:26407505-26407555	GM12892	blood:	n/a
10	chr6:26407505-26407555	SK-N-MC	brain:	n/a
11	chr6:26407505-26407555	GM19239	blood:	n/a
12	chr6:26407505-26407555	T-47D	breast:	n/a
13	chr6:26407505-26407555	PrEC	prostate:	n/a
14	chr6:26407505-26407555	PANC-1	pancreas:	n/a
15	chr6:26407505-26407555	ovcar-3	ovarian:	n/a
16	chr6:26407505-26407555	SK-N-SH_RA	brain:	n/a
17	chr6:26407505-26407555	HMEC	breast:	n/a
18	chr6:26407505-26407555	HCPEpiC	choroid plexus:	n/a
19	chr6:26407505-26407555	HepG2	liver:	n/a
20	chr6:26407505-26407555	PFSK-1	brain:	n/a
21	chr6:26407505-26407555	HUVEC	blood vessel:	n/a
22	chr6:26407505-26407555	MCF10A-Er-Src	breast:	n/a
23	chr6:26407505-26407555	HCT-116	colon:	n/a
24	chr6:26407505-26407555	CMK	blood:	n/a
25	chr6:26407505-26407555	HRCEpiC	kidney:	n/a
26	chr6:26407505-26407555	HCF	heart:	n/a
27	chr6:26407505-26407555	HAEpiC	amniotic membrane:	n/a
28	chr6:26407505-26407555	AG04449	skin:	fetal
29	chr6:26407505-26407555	AG10803	skin:	n/a
30	chr6:26407505-26407555	SKMC	muscle:	n/a
31	chr6:26407505-26407555	HRE	kidney:	n/a
32	chr6:26407505-26407555	GM12891	blood:	n/a
33	chr6:26407505-26407555	NB4	blood:	n/a
34	chr6:26407505-26407555	RPTEC	kidney:	n/a
35	chr6:26407505-26407555	K562	blood:	n/a
36	chr6:26407505-26407555	GM06990	blood:	n/a
37	chr6:26407505-26407555	NH-A	brain:	n/a
38	chr6:26407505-26407555	GM12878	blood:	n/a
39	chr6:26407505-26407555	BE2_C	brain:	n/a
40	chr6:26407505-26407555	HRPEpiC	eye:	n/a
41	chr6:26407505-26407555	LNCaP	prostate:	n/a
42	chr6:26407505-26407555	A549	lung:	n/a
43	chr6:26407505-26407555	BJ	skin:	n/a
44	chr6:26407505-26407555	MCF-7	breast:	n/a
45	chr6:26407505-26407555	Jurkat	blood:	n/a
46	chr6:26407505-26407555	HEEpiC	esophagus:	n/a
47	chr6:26407505-26407555	NHDF-neo	bronchial:	n/a
48	chr6:26407505-26407555	HPAEpiC	pulmonary alveolar:	n/a
49	chr6:26407505-26407555	Hepatocyte	liver:	n/a
50	chr6:26407505-26407555	NT2-D1	testis:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26407106..26409620-chr6:27099547..27102261,2	K562	blood:
2	chr6:26397216..26399740-chr6:26407400..26409263,3	K562	blood:
3	chr6:26403327..26405922-chr6:26411445..26413266,2	K562	blood:
4	chr6:26400774..26405587-chr6:26406042..26409897,8	K562	blood:

No data

Variant related genes	Relation type
BTN3A1	TF binding region
BTN3A1	CpG island
ENSG00000026950	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000124635	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192573594	chr6:26405900-26405901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371938458	chr6:26405904-26405905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566411691	chr6:26405909-26405910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374569079	chr6:26405912-26405913	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535315381	chr6:26405946-26405947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558229453	chr6:26405971-26405972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578061938	chr6:26405989-26405990	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17610161	chr6:26405990-26405991	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs114918857	chr6:26405995-26405996	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544196815	chr6:26406027-26406028	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139221091	chr6:26406045-26406046	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs3857549	chr6:26406053-26406054	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368884992	chr6:26406056-26406057	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184245591	chr6:26406073-26406074	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368555498	chr6:26406089-26406090	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371237088	chr6:26406123-26406124	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527607062	chr6:26406131-26406132	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540919899	chr6:26406132-26406133	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372233454	chr6:26406141-26406142	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564000550	chr6:26406187-26406188	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200982319	chr6:26406192-26406193	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377117570	chr6:26406193-26406194	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369084587	chr6:26406195-26406196	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139011114	chr6:26406203-26406204	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149895116	chr6:26406248-26406249	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3857550	chr6:26406255-26406256	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367894457	chr6:26406282-26406283	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs199781860	chr6:26406283-26406284	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150905778	chr6:26406320-26406321	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549341227	chr6:26406325-26406326	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138258145	chr6:26406327-26406328	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201217877	chr6:26406362-26406363	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376221996	chr6:26406385-26406386	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2393650	chr6:26406396-26406397	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111540572	chr6:26406424-26406425	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537072716	chr6:26406453-26406454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557288785	chr6:26406468-26406469	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527834024	chr6:26406514-26406515	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370977246	chr6:26406656-26406657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574084357	chr6:26406672-26406673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536727243	chr6:26406698-26406699	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555184264	chr6:26406713-26406714	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571920705	chr6:26406741-26406742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540781022	chr6:26406762-26406763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs60750900	chr6:26406779-26406780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs188962371	chr6:26406891-26406892	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543088080	chr6:26406913-26406914	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192838777	chr6:26406932-26406933	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2393651	chr6:26406975-26406976	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567388441	chr6:26407044-26407045	Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	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
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
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26394000-26412000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26403000-26406400	Weak transcription	Gastric	stomach
3	chr6:26403000-26406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:26403000-26406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:26403000-26409600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:26403000-26409600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:26403000-26409800	Weak transcription	Aorta	Aorta
8	chr6:26403000-26410000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:26403000-26421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:26403000-26421200	Weak transcription	Right Ventricle	heart
11	chr6:26403200-26406800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:26403200-26406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:26403200-26407200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:26403200-26408000	Weak transcription	HUVEC	blood vessel
15	chr6:26403200-26409400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:26403200-26409400	Weak transcription	Fetal Heart	heart
17	chr6:26403200-26409600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:26403200-26412200	Weak transcription	Brain Angular Gyrus	brain
19	chr6:26403200-26415400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:26403200-26415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:26403200-26420200	Weak transcription	HSMMtube	muscle
22	chr6:26403200-26421000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:26403200-26421000	Weak transcription	NHDF-Ad	bronchial
24	chr6:26403400-26406600	Weak transcription	Brain Anterior Caudate	brain
25	chr6:26403400-26406800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:26403400-26406800	Weak transcription	Placenta	Placenta
27	chr6:26403400-26407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:26403400-26407200	Weak transcription	Brain Substantia Nigra	brain
29	chr6:26403400-26407400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:26403400-26407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:26403400-26409600	Weak transcription	Left Ventricle	heart
32	chr6:26403400-26409800	Weak transcription	Osteobl	bone
33	chr6:26403400-26411800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:26403400-26412200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:26403400-26414200	Weak transcription	K562	blood
36	chr6:26403400-26418200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:26403400-26418200	Weak transcription	Brain Germinal Matrix	brain
38	chr6:26403400-26421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:26403400-26421000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:26403400-26421000	Weak transcription	Right Atrium	heart
41	chr6:26403600-26406800	Weak transcription	Pancreas	Pancrea
42	chr6:26403600-26407400	Weak transcription	Colonic Mucosa	Colon
43	chr6:26403600-26411600	Weak transcription	Fetal Brain Female	brain
44	chr6:26403600-26421200	Weak transcription	Psoas Muscle	Psoas
45	chr6:26403800-26406600	Weak transcription	Fetal Kidney	kidney
46	chr6:26404400-26406800	Weak transcription	Fetal Brain Male	brain
47	chr6:26404800-26406400	Strong transcription	Fetal Intestine Small	intestine
48	chr6:26404800-26406800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:26404800-26414800	Strong transcription	Fetal Muscle Leg	muscle
50	chr6:26405000-26406200	Genic enhancers	Dnd41	blood

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