Variant report

Variant	esv3402302
Chromosome Location	chr19:55714911-55718019
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55704482..55706178-chr19:55716110..55717616,2	K562	blood:
2	chr19:55717271..55720119-chr19:55971581..55974042,2	K562	blood:
3	chr19:55713511..55716413-chr19:55771406..55774193,2	MCF-7	breast:
4	chr19:55690042..55692776-chr19:55717237..55718780,2	K562	blood:
5	chr19:55677672..55679195-chr19:55716116..55718159,2	MCF-7	breast:
6	chr19:55711944..55714084-chr19:55716574..55718347,2	MCF-7	breast:
7	chr19:55717069..55718690-chr19:55897128..55899524,2	K562	blood:
8	chr19:55716986..55718493-chr19:55791632..55793332,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM86B-3	chr19:55716760-55716960	NONHSAT068004

No data

Variant related genes	Relation type
ENSG00000239137	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000129990	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000133265	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs148850152	chr19:55714915-55714916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534451563	chr19:55714924-55714925	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112389092	chr19:55714932-55714933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547970299	chr19:55714951-55714952	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78095628	chr19:55714952-55714953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570929286	chr19:55714954-55714955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538742508	chr19:55714955-55714956	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558401914	chr19:55714977-55714978	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574971656	chr19:55714982-55714983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537496585	chr19:55714988-55714989	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554135242	chr19:55715003-55715004	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574402212	chr19:55715054-55715055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540109104	chr19:55715055-55715056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553957213	chr19:55715056-55715057	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576930399	chr19:55715058-55715059	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545965093	chr19:55715069-55715070	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181760799	chr19:55715072-55715073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117930841	chr19:55715074-55715075	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542252083	chr19:55715087-55715088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12608558	chr19:55715090-55715091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199993570	chr19:55715106-55715107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570471863	chr19:55715117-55715118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201983456	chr19:55715133-55715134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374902069	chr19:55715134-55715135	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369006762	chr19:55715137-55715138	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537921308	chr19:55715165-55715166	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138529051	chr19:55715171-55715172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141593423	chr19:55715189-55715190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571109810	chr19:55715201-55715202	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs143505843	chr19:55715207-55715208	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs538781957	chr19:55715208-55715209	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs187289388	chr19:55715214-55715215	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs148343769	chr19:55715215-55715216	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs61734256	chr19:55715227-55715228	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375452076	chr19:55715246-55715247	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs537508984	chr19:55715247-55715248	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs552386989	chr19:55715256-55715257	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs372625920	chr19:55715264-55715265	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs199739996	chr19:55715272-55715273	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs200222743	chr19:55715277-55715278	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs61734210	chr19:55715285-55715286	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567690852	chr19:55715290-55715291	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs45535035	chr19:55715309-55715310	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9304763	chr19:55715319-55715320	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577047231	chr19:55715325-55715326	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs55870162	chr19:55715342-55715343	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs45493898	chr19:55715359-55715360	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs376837207	chr19:55715403-55715404	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs576610554	chr19:55715405-55715406	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs200386400	chr19:55715408-55715409	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55691200-55718200	Weak transcription	Right Atrium	heart
2	chr19:55691600-55718200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55691800-55717600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:55692600-55717000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr19:55701200-55718000	Weak transcription	A549	lung
6	chr19:55701400-55718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55703000-55717800	Weak transcription	Hela-S3	cervix
8	chr19:55704200-55718200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:55704800-55717400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr19:55705000-55717000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:55707200-55718400	Weak transcription	Brain Angular Gyrus	brain
12	chr19:55707800-55715600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:55707800-55717200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr19:55708800-55720600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:55709400-55715800	Weak transcription	Spleen	Spleen
16	chr19:55710400-55718200	Weak transcription	Stomach Mucosa	stomach
17	chr19:55711600-55717200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:55711800-55718200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:55712000-55718000	Weak transcription	Colonic Mucosa	Colon
20	chr19:55712000-55718000	Weak transcription	Pancreas	Pancrea
21	chr19:55712800-55718000	Weak transcription	NHLF	lung
22	chr19:55713000-55715200	Weak transcription	Fetal Stomach	stomach
23	chr19:55713600-55715400	Weak transcription	Fetal Intestine Large	intestine
24	chr19:55713800-55715200	Weak transcription	K562	blood
25	chr19:55713800-55716000	Weak transcription	Gastric	stomach
26	chr19:55714800-55715200	Genic enhancers	HepG2	liver
27	chr19:55714800-55717200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr19:55715200-55716400	Strong transcription	K562	blood
29	chr19:55715200-55716600	Strong transcription	Fetal Stomach	stomach
30	chr19:55715200-55717200	Transcr. at gene 5' and 3'	HepG2	liver
31	chr19:55715400-55717200	Strong transcription	Fetal Intestine Large	intestine
32	chr19:55715600-55717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:55715800-55717000	Genic enhancers	Spleen	Spleen
34	chr19:55716000-55716600	Strong transcription	Gastric	stomach
35	chr19:55716400-55717200	Genic enhancers	K562	blood
36	chr19:55716600-55718400	Weak transcription	Gastric	stomach
37	chr19:55717000-55717800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:55717000-55718400	Weak transcription	Spleen	Spleen
39	chr19:55717000-55720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:55717200-55717400	Transcr. at gene 5' and 3'	K562	blood
41	chr19:55717200-55717600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:55717200-55717600	Flanking Active TSS	HepG2	liver
43	chr19:55717200-55717800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:55717200-55717800	Weak transcription	Fetal Intestine Large	intestine
45	chr19:55717200-55717800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:55717400-55717800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:55717400-55719000	Active TSS	K562	blood
48	chr19:55717600-55718200	Active TSS	Liver	Liver
49	chr19:55717600-55718200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr19:55717600-55718200	Active TSS	HepG2	liver

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