Variant report

Variant	esv10151
Chromosome Location	chr6:29679433-29682912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:29680448-29680737	NB4	blood:	n/a	chr6:29680571-29680581
2	POLR2A	chr6:29681662-29682343	K562	blood:	n/a	n/a
3	POLR2A	chr6:29680597-29681086	K562	blood:	n/a	n/a
4	POLR2A	chr6:29679868-29680305	K562	blood:	n/a	n/a
5	POLR2A	chr6:29681306-29681438	K562	blood:	n/a	n/a
6	ZNF274	chr6:29682161-29682804	GM08714	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:29681737..29685555-chr6:29686615..29688782,3	MCF-7	breast:
2	chr6:29674335..29677228-chr6:29680202..29682360,2	K562	blood:
3	chr6:29675728..29678491-chr6:29678733..29681702,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP57-10	chr6:29680412-29680807	NONHSAT108539

No data

Variant related genes	Relation type
ZDHHC20P1	TF binding region
ENSG00000233916	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1611360	chr6:29679434-29679435	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549192268	chr6:29679451-29679452	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1611361	chr6:29679466-29679467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1611362	chr6:29679471-29679472	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541617549	chr6:29679476-29679477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557936942	chr6:29679484-29679485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112417306	chr6:29679491-29679492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1611363	chr6:29679551-29679552	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148427882	chr6:29679552-29679553	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547448742	chr6:29679588-29679589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573541845	chr6:29679595-29679596	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1611364	chr6:29679602-29679603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs201314644	chr6:29679612-29679613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201955731	chr6:29679619-29679620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1611365	chr6:29679621-29679622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572851479	chr6:29679624-29679625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144064418	chr6:29679629-29679630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564327966	chr6:29679648-29679649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1611366	chr6:29679760-29679761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs386698413	chr6:29679799-29679800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1611368	chr6:29679801-29679802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371519603	chr6:29679802-29679803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549329630	chr6:29679816-29679817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1611369	chr6:29679851-29679852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528553943	chr6:29679904-29679905	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73410967	chr6:29679908-29679909	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530114946	chr6:29679928-29679929	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1611370	chr6:29679981-29679982	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1611371	chr6:29680021-29680022	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs146480681	chr6:29680031-29680032	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140981735	chr6:29680040-29680041	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558939096	chr6:29680053-29680054	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1611372	chr6:29680072-29680073	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs116931068	chr6:29680075-29680076	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs386698414	chr6:29680084-29680085	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142923077	chr6:29680098-29680099	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558256619	chr6:29680105-29680106	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1611375	chr6:29680106-29680107	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1611376	chr6:29680142-29680143	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs1611377	chr6:29680152-29680153	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs1611378	chr6:29680205-29680206	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191059067	chr6:29680241-29680242	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1611379	chr6:29680270-29680271	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs1611380	chr6:29680302-29680303	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551890715	chr6:29680336-29680337	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144796131	chr6:29680345-29680346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531050606	chr6:29680374-29680375	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550706636	chr6:29680440-29680441	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs567360431	chr6:29680469-29680470	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs528375841	chr6:29680492-29680493	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29664000-29690600	Weak transcription	Right Atrium	heart
2	chr6:29677400-29681200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr6:29677600-29681000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr6:29677600-29681200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:29677600-29681400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:29677600-29682000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:29677600-29682600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:29677800-29679600	Enhancers	Primary T cells from cord blood	blood
9	chr6:29677800-29681000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:29678200-29680600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:29678200-29681200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:29678400-29685200	Weak transcription	Esophagus	oesophagus
13	chr6:29678600-29681800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:29678600-29689200	Weak transcription	GM12878-XiMat	blood
15	chr6:29679200-29680000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:29679200-29680600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:29679200-29680800	Weak transcription	Spleen	Spleen
18	chr6:29679400-29680800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:29679600-29680400	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:29679600-29683600	Weak transcription	Primary T cells from cord blood	blood
21	chr6:29679800-29680000	Enhancers	Brain Substantia Nigra	brain
22	chr6:29680000-29681000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:29680200-29680800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
24	chr6:29680600-29680800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:29680800-29681000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:29680800-29681000	Enhancers	Spleen	Spleen
27	chr6:29681000-29681200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:29681000-29681400	Weak transcription	Spleen	Spleen
29	chr6:29681000-29681800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:29681200-29681800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:29681200-29688200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:29681800-29682000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:29681800-29682400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:29681800-29688200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:29682000-29688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:29682400-29688200	Weak transcription	Primary T cells fromperipheralblood	blood

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