Variant report

Variant	nsv960837
Chromosome Location	chr19:39156364-39162333
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39152656..39156169-chr19:39159383..39162487,4	K562	blood:
2	chr19:39136593..39141523-chr19:39155434..39158627,5	K562	blood:
3	chr19:39156254..39158028-chr19:39160745..39162596,2	K562	blood:
4	chr19:39155095..39156706-chr19:39341962..39343688,2	MCF-7	breast:
5	chr19:39156656..39158268-chr19:39339409..39341724,2	MCF-7	breast:
6	chr19:39141727..39145361-chr19:39153035..39156463,3	K562	blood:
7	chr19:39153844..39156504-chr19:39338574..39341017,2	K562	blood:
8	chr19:39156222..39158028-chr19:39160453..39162596,3	K562	blood:
9	chr19:39161055..39163275-chr19:39172924..39175598,3	K562	blood:
10	chr19:39156320..39158010-chr19:39194511..39197034,2	MCF-7	breast:
11	chr19:39160838..39163402-chr19:39174691..39176835,2	MCF-7	breast:
12	chr19:39157020..39159393-chr19:39170595..39173839,3	MCF-7	breast:
13	chr19:39137645..39139443-chr19:39158789..39160706,2	MCF-7	breast:
14	chr19:39156941..39159370-chr19:39200344..39202279,2	MCF-7	breast:
15	chr19:39149024..39154711-chr19:39158901..39163144,7	MCF-7	breast:
16	chr19:39156222..39158028-chr19:39160453..39162596,3	K562	blood:
17	chr19:39156254..39158028-chr19:39160745..39162596,2	K562	blood:
18	chr19:39154055..39157137-chr19:39203619..39206563,4	MCF-7	breast:
19	chr19:39161163..39163302-chr19:39198153..39200836,2	K562	blood:
20	chr19:39157029..39159931-chr19:39175100..39177737,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130402	chromatin interactions
ENSG00000104824	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73032691	chr19:39156382-39156383	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542164478	chr19:39156459-39156460	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs3810341	chr19:39156481-39156482	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs555490897	chr19:39156492-39156493	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141862636	chr19:39156500-39156501	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371929593	chr19:39156511-39156512	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs117087613	chr19:39156513-39156514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530654755	chr19:39156514-39156515	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545473180	chr19:39156515-39156516	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114559017	chr19:39156589-39156590	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528190399	chr19:39156654-39156655	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546536844	chr19:39156655-39156656	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561531266	chr19:39156672-39156673	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183622123	chr19:39156682-39156683	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552515098	chr19:39156690-39156691	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529586718	chr19:39156713-39156714	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115125903	chr19:39156747-39156748	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569457865	chr19:39156757-39156758	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76204482	chr19:39156806-39156807	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552023395	chr19:39156809-39156810	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370128644	chr19:39156810-39156811	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566920536	chr19:39156851-39156852	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534042383	chr19:39156855-39156856	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532275475	chr19:39156863-39156864	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569076046	chr19:39156864-39156865	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555684075	chr19:39156868-39156869	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3840936	chr19:39156870-39156871	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573992656	chr19:39156878-39156879	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369888170	chr19:39157003-39157004	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556868322	chr19:39157018-39157019	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28441065	chr19:39157060-39157061	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145551926	chr19:39157064-39157065	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527575716	chr19:39157082-39157083	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545559967	chr19:39157089-39157090	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564136847	chr19:39157123-39157124	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572849454	chr19:39157221-39157222	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550695321	chr19:39157228-39157229	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs114431603	chr19:39157232-39157233	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561714038	chr19:39157242-39157243	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79033654	chr19:39157260-39157261	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572780450	chr19:39157264-39157265	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568913897	chr19:39157269-39157270	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs137908928	chr19:39157275-39157276	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188292203	chr19:39157333-39157334	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372446584	chr19:39157363-39157364	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141617865	chr19:39157376-39157377	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551962211	chr19:39157482-39157483	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566953286	chr19:39157596-39157597	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs7246368	chr19:39157599-39157600	Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs181829114	chr19:39157628-39157629	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	19151661	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39141200-39162800	Enhancers	Psoas Muscle	Psoas
2	chr19:39147400-39160000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:39147800-39160800	Enhancers	Placenta	Placenta
4	chr19:39149600-39160200	Enhancers	Pancreas	Pancrea
5	chr19:39150000-39157600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr19:39151200-39157600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:39151200-39157600	Genic enhancers	Fetal Stomach	stomach
8	chr19:39151400-39157400	Genic enhancers	NHLF	lung
9	chr19:39151400-39160000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr19:39151800-39156800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:39152000-39159800	Weak transcription	Dnd41	blood
12	chr19:39152400-39159200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:39152400-39160000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:39152600-39156600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr19:39152600-39157600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:39152600-39157600	Enhancers	Fetal Lung	lung
17	chr19:39152600-39158400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:39152600-39158600	Enhancers	Ovary	ovary
19	chr19:39152600-39159200	Enhancers	Colonic Mucosa	Colon
20	chr19:39152600-39160000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:39152600-39160000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:39152600-39162200	Enhancers	Spleen	Spleen
23	chr19:39152600-39164000	Enhancers	Liver	Liver
24	chr19:39152800-39157000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr19:39152800-39157600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:39152800-39157600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:39152800-39159400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:39152800-39161200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:39153000-39157000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:39153000-39157200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:39153000-39157200	Enhancers	HUVEC	blood vessel
32	chr19:39153000-39158000	Enhancers	Gastric	stomach
33	chr19:39153000-39158400	Enhancers	Primary B cells from cord blood	blood
34	chr19:39153000-39158600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:39153000-39161200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr19:39153200-39156400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr19:39153200-39157400	Enhancers	NH-A	brain
38	chr19:39153200-39159200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:39153400-39157200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:39153400-39157400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr19:39153400-39159400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:39153400-39161200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:39153600-39156400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr19:39154000-39158800	Transcr. at gene 5' and 3'	A549	lung
45	chr19:39154000-39160200	Enhancers	Primary hematopoietic stem cells	blood
46	chr19:39154000-39160400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:39154000-39162600	Enhancers	Fetal Kidney	kidney
48	chr19:39154000-39162800	Enhancers	Small Intestine	intestine
49	chr19:39154200-39156600	Flanking Active TSS	Fetal Heart	heart
50	chr19:39154200-39158000	Bivalent Enhancer	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links