Variant report

Variant	esv1003586
Chromosome Location	chr19:24182354-24185541
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:33477647..33478335-chr19:24185255..24186286,3	MCF-7	breast:
2	chr1:156186507..156188050-chr19:24184494..24186477,2	MCF-7	breast:
3	chr11:85194574..85195759-chr19:24184744..24186176,10	MCF-7	breast:
4	chr19:24182607..24185200-chr5:71145273..71148251,3	MCF-7	breast:
5	chr19:24184130..24184632-chr4:70296678..70297183,2	MCF-7	breast:
6	chr11:85195169..85196687-chr19:24184953..24186982,2	MCF-7	breast:
7	chr16:47538624..47539255-chr19:24184251..24185320,3	MCF-7	breast:
8	chr19:24183270..24185003-chr8:56755053..56756716,2	MCF-7	breast:
9	chr19:24183698..24186253-chr2:133010463..133012247,3	K562	blood:
10	chr19:24183609..24184220-chr5:71146242..71147243,4	MCF-7	breast:
11	chr11:85195049..85196754-chr19:24184306..24186751,3	K562	blood:
12	chr19:24184654..24186244-chr21:9824227..9825807,2	K562	blood:
13	chr19:24183629..24184220-chr2:230045099..230046085,2	MCF-7	breast:
14	chr19:24184128..24185106-chr2:133038164..133039151,2	MCF-7	breast:
15	chr16:47537629..47540663-chr19:24183251..24186106,3	MCF-7	breast:
16	chr19:24183126..24185198-chr5:71145386..71148247,2	MCF-7	breast:
17	chr1:91851367..91853065-chr19:24182409..24185198,2	MCF-7	breast:
18	chr17:33477724..33478250-chr19:24185482..24186473,2	HCT-116	colon:
19	chr11:85194707..85195726-chr19:24185012..24186176,4	MCF-7	breast:
20	chr19:24184475..24185109-chr8:56755053..56755813,3	K562	blood:
21	chr17:33477643..33478302-chr19:24184476..24185300,2	K562	blood:
22	chr19:24184476..24185016-chr6:133593470..133593971,2	MCF-7	breast:
23	chr16:47538608..47539204-chr19:24184110..24185018,4	MCF-7	breast:
24	chr19:24183455..24185005-chr21:9825897..9828322,2	K562	blood:
25	chr11:85194679..85195667-chr19:24185002..24186153,3	MCF-7	breast:
26	chr16:33963358..33967103-chr19:24184306..24187287,4	MCF-7	breast:
27	chr19:24184609..24185499-chr21:9826064..9827278,4	MCF-7	breast:
28	chr16:33963670..33966726-chr19:24184116..24187308,5	K562	blood:
29	chr19:24183610..24184220-chr5:71146241..71147357,5	MCF-7	breast:
30	chr11:85194561..85195749-chr19:24185001..24186153,7	MCF-7	breast:
31	chr19:24183615..24184637-chr4:70296138..70296644,3	K562	blood:
32	chr19:24184300..24184982-chr6:133593600..133594102,2	MCF-7	breast:
33	chr16:47538608..47539209-chr19:24184105..24184774,2	MCF-7	breast:
34	chr19:24183996..24185975-chr2:133012849..133015189,2	MCF-7	breast:
35	chr19:24183616..24184193-chr2:230045520..230046108,2	MCF-7	breast:
36	chr19:24183680..24184220-chr2:230045001..230045516,2	MCF-7	breast:
37	chr16:47538731..47540646-chr19:24183961..24186504,3	K562	blood:
38	chr16:33963729..33966726-chr19:24184116..24187308,5	K562	blood:
39	chr19:24179938..24183018-chr19:24183132..24186058,3	K562	blood:
40	chr19:24183267..24184972-chr2:133036687..133040151,3	K562	blood:
41	chr19:24179938..24183018-chr19:24183132..24186058,3	K562	blood:
42	chr11:85193664..85196579-chr19:24184471..24186975,3	MCF-7	breast:
43	chr19:24183270..24185005-chr21:9826776..9829012,3	K562	blood:
44	chr12:127649024..127652135-chr19:24184606..24186487,3	K562	blood:
45	chr19:24183976..24186954-chr5:71145411..71148382,3	K562	blood:
46	chr19:24183492..24185607-chr21:9824150..9825768,2	K562	blood:
47	chr19:24184131..24186954-chr5:71145411..71148367,2	K562	blood:
48	chr16:47538608..47539232-chr19:24184323..24185236,2	MCF-7	breast:
49	chr19:24183680..24184222-chr2:230045020..230045521,2	MCF-7	breast:
50	chr19:24183682..24186477-chr21:9825292..9827311,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222268	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000202174	chromatin interactions
ENSG00000221288	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000239776	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150357212	chr19:24182364-24182365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572235377	chr19:24182376-24182377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553192747	chr19:24182377-24182378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184547610	chr19:24182392-24182393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574590774	chr19:24182409-24182410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370606472	chr19:24182411-24182412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111791779	chr19:24182417-24182418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77140847	chr19:24182420-24182421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113424636	chr19:24182422-24182423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575998727	chr19:24182423-24182424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543092221	chr19:24182430-24182431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181724199	chr19:24182460-24182461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17000593	chr19:24182464-24182465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs574283001	chr19:24182473-24182474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186028761	chr19:24182483-24182484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541698057	chr19:24182486-24182487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559539126	chr19:24182507-24182508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536241175	chr19:24182510-24182511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563518760	chr19:24182523-24182524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554086748	chr19:24182529-24182530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11665950	chr19:24182567-24182568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551467481	chr19:24182583-24182584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563479142	chr19:24182605-24182606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376851838	chr19:24182629-24182630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7246266	chr19:24182631-24182632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188167158	chr19:24182643-24182644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116236761	chr19:24182663-24182664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199802912	chr19:24182667-24182668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149122351	chr19:24182707-24182708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113440963	chr19:24182710-24182711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113832283	chr19:24182717-24182718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180736403	chr19:24182721-24182722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113534297	chr19:24182730-24182731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200011250	chr19:24182753-24182754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565885579	chr19:24182757-24182758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78744798	chr19:24182760-24182761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34656002	chr19:24182765-24182766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557975522	chr19:24182773-24182774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576103910	chr19:24182815-24182816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199586366	chr19:24182816-24182817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537130099	chr19:24182835-24182836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555106766	chr19:24182838-24182839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202029900	chr19:24182840-24182841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573548732	chr19:24182847-24182848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184032148	chr19:24182862-24182863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556284412	chr19:24182895-24182896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369814481	chr19:24182901-24182902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373308574	chr19:24182904-24182905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559576079	chr19:24182926-24182927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145616166	chr19:24182944-24182945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24175200-24183600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:24175400-24183600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:24179800-24183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:24180000-24183600	Weak transcription	Fetal Heart	heart
5	chr19:24180800-24183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:24181400-24183600	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:24181400-24183600	Weak transcription	Gastric	stomach
8	chr19:24181400-24183600	Weak transcription	Right Atrium	heart
9	chr19:24182400-24183400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:24182600-24183600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:24182800-24183600	Enhancers	Placenta	Placenta
12	chr19:24183000-24183600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:24183200-24184400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr19:24183400-24185000	ZNF genes & repeats	Esophagus	oesophagus
15	chr19:24183400-24185200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr19:24183400-24186000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:24183400-24187400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:24183600-24183800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
24	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Gastric	stomach
26	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
27	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
28	chr19:24183600-24183800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr19:24183600-24184000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:24183600-24184200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:24183600-24184200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:24183600-24184200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr19:24183600-24184200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:24183600-24184200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:24183600-24184200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:24183600-24184200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr19:24183600-24184200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:24183600-24184200	ZNF genes & repeats	Aorta	Aorta
39	chr19:24183600-24184200	ZNF genes & repeats	Liver	Liver
40	chr19:24183600-24184200	ZNF genes & repeats	Brain Angular Gyrus	brain
41	chr19:24183600-24184200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
42	chr19:24183600-24184200	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr19:24183600-24184200	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr19:24183600-24184200	ZNF genes & repeats	Fetal Heart	heart
45	chr19:24183600-24184200	ZNF genes & repeats	Fetal Lung	lung
46	chr19:24183600-24184200	ZNF genes & repeats	Ovary	ovary
47	chr19:24183600-24184200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
48	chr19:24183600-24184200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr19:24183600-24184200	ZNF genes & repeats	Right Atrium	heart
50	chr19:24183600-24184400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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