Variant report

Variant	esv3395817
Chromosome Location	chr19:35659112-35663810
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
2	chr19:35657732..35659414-chr19:35738597..35740391,2	MCF-7	breast:
3	chr19:35653833..35655711-chr19:35656998..35660022,4	K562	blood:
4	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
5	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
6	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
7	chr19:35642928..35645381-chr19:35657672..35659375,2	MCF-7	breast:
8	chr19:35657563..35659340-chr19:35750773..35753172,2	K562	blood:
9	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
10	chr19:35658697..35660776-chr19:35739212..35740943,2	K562	blood:
11	chr19:35658448..35660082-chr19:35706961..35709327,2	K562	blood:
12	chr19:35658538..35660564-chr19:35760467..35762500,2	K562	blood:
13	chr19:35658586..35660197-chr19:35739044..35740712,2	K562	blood:
14	chr19:35652170..35655595-chr19:35655947..35659208,4	MCF-7	breast:
15	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
16	chr19:35653735..35656865-chr19:35656931..35659382,3	MCF-7	breast:
17	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:
18	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
19	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
20	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
21	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
22	chr19:35606015..35607604-chr19:35656192..35659125,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FXYD7-2	chr19:35660469-35660788	NR_028406

No data

Variant related genes	Relation type
ENSG00000089356	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000089327	chromatin interactions
ENSG00000105698	chromatin interactions
ENSG00000105697	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs562056570	chr19:35659123-35659124	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571377552	chr19:35659151-35659152	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527492194	chr19:35659301-35659302	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547194186	chr19:35659321-35659322	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531126455	chr19:35659352-35659353	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12978479	chr19:35659379-35659380	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532881608	chr19:35659389-35659390	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144315364	chr19:35659398-35659399	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs185139699	chr19:35659419-35659420	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569531957	chr19:35659435-35659436	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs79378603	chr19:35659451-35659452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554959528	chr19:35659467-35659468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568738637	chr19:35659573-35659574	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534347633	chr19:35659581-35659582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs189846518	chr19:35659650-35659651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs182788571	chr19:35659652-35659653	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs546296878	chr19:35659656-35659657	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs187928406	chr19:35659659-35659660	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576350146	chr19:35659681-35659682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542257199	chr19:35659695-35659696	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561789228	chr19:35659698-35659699	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs76166831	chr19:35659758-35659759	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs140131060	chr19:35659762-35659763	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79044818	chr19:35659763-35659764	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs79127981	chr19:35659782-35659783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534949683	chr19:35659825-35659826	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs540795420	chr19:35659921-35659922	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs555504596	chr19:35659965-35659966	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs386388923	chr19:35659966-35659967	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs386388924	chr19:35659981-35659982	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs58642459	chr19:35659982-35659983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563963767	chr19:35660028-35660029	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193172121	chr19:35660030-35660031	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374661341	chr19:35660037-35660038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368726710	chr19:35660051-35660052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117868914	chr19:35660072-35660073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569777485	chr19:35660088-35660089	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs183323837	chr19:35660096-35660097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111549595	chr19:35660124-35660125	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568625207	chr19:35660137-35660138	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56050577	chr19:35660138-35660139	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548137327	chr19:35660141-35660142	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571041078	chr19:35660172-35660173	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540079906	chr19:35660248-35660249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556380626	chr19:35660268-35660269	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576485298	chr19:35660279-35660280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535443145	chr19:35660345-35660346	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7253276	chr19:35660348-35660349	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189072290	chr19:35660374-35660375	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs571984105	chr19:35660386-35660387	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
6	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35653800-35661400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
9	chr19:35655600-35661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:35657000-35659200	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr19:35657000-35659200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:35657200-35660400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
14	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:35657600-35659600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr19:35657600-35660200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:35657600-35660400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:35657600-35660600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:35657800-35659400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:35657800-35659400	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:35657800-35659400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr19:35657800-35659400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:35657800-35659400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:35657800-35659600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:35657800-35659600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr19:35657800-35660600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:35657800-35660600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:35657800-35661200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr19:35657800-35661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:35657800-35661800	Strong transcription	NHLF	lung
35	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
36	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
40	chr19:35658000-35659400	Weak transcription	Left Ventricle	heart
41	chr19:35658000-35659800	Genic enhancers	HMEC	breast
42	chr19:35658000-35660000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:35658000-35660400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:35658000-35660400	Weak transcription	Fetal Intestine Small	intestine
45	chr19:35658000-35660800	Genic enhancers	NHEK	skin
46	chr19:35658000-35661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:35658000-35661600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:35658000-35667000	Weak transcription	HSMM	muscle

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