Variant report

Variant	nsv522906
Chromosome Location	chr6:33638180-33647651
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33638801..33640404-chr6:33640561..33642617,2	K562	blood:
2	chr6:33553164..33555974-chr6:33639876..33642136,2	MCF-7	breast:
3	chr6:33638801..33640404-chr6:33640561..33642617,2	K562	blood:
4	chr6:33640895..33643218-chr6:33644237..33647078,2	MCF-7	breast:
5	chr6:33645251..33648923-chr6:33649815..33652997,4	MCF-7	breast:
6	chr6:33644740..33654543-chr6:33656969..33664772,16	MCF-7	breast:
7	chr6:33638667..33640711-chr6:33662007..33664504,2	MCF-7	breast:
8	chr6:33632367..33634802-chr6:33639776..33642394,2	K562	blood:
9	chr6:33604565..33606650-chr6:33635359..33638294,2	K562	blood:
10	chr6:33640895..33643218-chr6:33644237..33647078,2	MCF-7	breast:
11	chr6:33626128..33628558-chr6:33646495..33648052,2	K562	blood:
12	chr6:33635449..33638444-chr6:33638493..33640843,3	K562	blood:
13	chr6:33634324..33636697-chr6:33642308..33645021,2	MCF-7	breast:
14	chr6:33557445..33558321-chr6:33640204..33641251,4	MCF-7	breast:
15	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:
16	chr6:33632939..33634646-chr6:33637340..33638930,2	K562	blood:
17	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:
18	chr6:33599307..33602028-chr6:33636164..33638489,2	MCF-7	breast:
19	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
20	chr6:33557115..33558665-chr6:33640289..33641376,5	K562	blood:
21	chr6:33587884..33589809-chr6:33639279..33641252,2	MCF-7	breast:
22	chr6:33635449..33638444-chr6:33638493..33640843,3	K562	blood:
23	chr6:33566688..33568911-chr6:33636835..33638571,2	K562	blood:
24	chr6:33557167..33558102-chr6:33640434..33641022,2	MCF-7	breast:
25	chr6:33632139..33634646-chr6:33635663..33639290,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096433	chromatin interactions
ENSG00000269490	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2229634	chr6:33638180-33638181	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200896794	chr6:33638228-33638229	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200526442	chr6:33638232-33638233	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369403597	chr6:33638233-33638234	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199773526	chr6:33638264-33638265	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201113452	chr6:33638267-33638268	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577602247	chr6:33638268-33638269	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17526232	chr6:33638300-33638301	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142010275	chr6:33638301-33638302	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147317574	chr6:33638313-33638314	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560587779	chr6:33638334-33638335	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200707174	chr6:33638335-33638336	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549495357	chr6:33638385-33638386	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376585567	chr6:33638396-33638397	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60915206	chr6:33638414-33638415	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376122914	chr6:33638419-33638420	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28739366	chr6:33638422-33638423	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370454006	chr6:33638424-33638425	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567743031	chr6:33638426-33638427	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370695725	chr6:33638428-33638429	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201031155	chr6:33638450-33638451	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199642181	chr6:33638453-33638454	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139257621	chr6:33638459-33638460	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373736564	chr6:33638468-33638469	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202110116	chr6:33638469-33638470	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371275319	chr6:33638470-33638471	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375950859	chr6:33638472-33638473	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368516873	chr6:33638479-33638480	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571983691	chr6:33638483-33638484	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368153341	chr6:33638499-33638500	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143245431	chr6:33638505-33638506	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2229635	chr6:33638514-33638515	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200877258	chr6:33638544-33638545	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200072171	chr6:33638551-33638552	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554681103	chr6:33638571-33638572	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202227435	chr6:33638600-33638601	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs186151658	chr6:33638607-33638608	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs2274198	chr6:33638657-33638658	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576730602	chr6:33638665-33638666	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs541364140	chr6:33638738-33638739	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560277086	chr6:33638772-33638773	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527718650	chr6:33638799-33638800	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542732736	chr6:33638809-33638810	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561389178	chr6:33638827-33638828	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540485110	chr6:33638832-33638833	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6932485	chr6:33638843-33638844	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561992022	chr6:33638858-33638859	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550403738	chr6:33638862-33638863	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376546281	chr6:33638892-33638893	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs41271251	chr6:33638897-33638898	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
abnormal development	18461090	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
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
2	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
6	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
7	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
8	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
9	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr6:33621400-33643400	Strong transcription	Spleen	Spleen
12	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:33621400-33672600	Strong transcription	Dnd41	blood
14	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33622400-33644400	Strong transcription	Gastric	stomach
16	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:33623400-33641000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:33623400-33644000	Strong transcription	Fetal Stomach	stomach
19	chr6:33624200-33639200	Strong transcription	NHLF	lung
20	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:33624800-33639400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:33625200-33645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:33626000-33638600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:33626600-33638800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:33630200-33651000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:33630400-33640000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr6:33630400-33650800	Weak transcription	Ovary	ovary
29	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr6:33630600-33645800	Strong transcription	Fetal Thymus	thymus
31	chr6:33631200-33640200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:33631400-33642800	Strong transcription	GM12878-XiMat	blood
33	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr6:33631800-33640800	Weak transcription	Fetal Brain Male	brain
35	chr6:33631800-33649400	Strong transcription	Pancreas	Pancrea
36	chr6:33631800-33661200	Weak transcription	Liver	Liver
37	chr6:33632200-33640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:33632600-33639200	Weak transcription	Psoas Muscle	Psoas
39	chr6:33632600-33639200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:33632800-33638800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:33633000-33638800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:33633000-33640400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:33633400-33642400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:33634800-33638800	Strong transcription	Adipose Nuclei	Adipose
45	chr6:33634800-33640400	Weak transcription	Osteobl	bone
46	chr6:33635000-33639400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:33635200-33638800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:33635200-33640200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:33635200-33640800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:33635400-33639600	Strong transcription	Small Intestine	intestine

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