Variant report

Variant	esv3409501
Chromosome Location	chr19:56598390-56601188
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56597558..56600385-chr19:56629038..56634094,5	K562	blood:
2	chr19:56599644..56602994-chr19:56620278..56624249,5	K562	blood:
3	chr19:56600333..56603154-chr19:56649687..56651196,2	K562	blood:
4	chr19:56596698..56598745-chr19:56631382..56633087,2	MCF-7	breast:
5	chr19:56601141..56604014-chr19:56651251..56654882,5	MCF-7	breast:
6	chr17:41465604..41466260-chr19:56599675..56600175,2	Hela-S3	cervix:
7	chr19:56599273..56599775-chr7:5569780..5570546,2	Hela-S3	cervix:
8	chr19:56600362..56602994-chr19:56622256..56625120,2	K562	blood:
9	chr19:56598614..56600130-chr19:56616927..56618591,2	MCF-7	breast:
10	chr17:41464187..41466335-chr19:56598175..56601155,2	K562	blood:
11	chr17:41464708..41466373-chr19:56599655..56601155,2	MCF-7	breast:
12	chr19:56596947..56599631-chr19:56611713..56614011,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075624	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000167685	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs377138427	chr19:56598409-56598410	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536183314	chr19:56598433-56598434	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552722375	chr19:56598435-56598436	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs61688015	chr19:56598437-56598438	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1109713	chr19:56598442-56598443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545713233	chr19:56598443-56598444	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1109714	chr19:56598448-56598449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111678256	chr19:56598465-56598466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544180988	chr19:56598493-56598494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567487671	chr19:56598513-56598514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560751364	chr19:56598514-56598515	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373713017	chr19:56598515-56598516	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12984629	chr19:56598517-56598518	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536469461	chr19:56598528-56598529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs526275	chr19:56598538-56598539	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61036024	chr19:56598553-56598554	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs603944	chr19:56598557-56598558	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10451427	chr19:56598559-56598560	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548538942	chr19:56598565-56598566	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10451455	chr19:56598567-56598568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546498391	chr19:56598568-56598569	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566282521	chr19:56598581-56598582	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186299383	chr19:56598582-56598583	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs116149204	chr19:56598584-56598585	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140582096	chr19:56598586-56598587	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537567155	chr19:56598588-56598589	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115224072	chr19:56598611-56598612	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373531074	chr19:56598613-56598614	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574361475	chr19:56598617-56598618	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs386811165	chr19:56598621-56598622	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571893167	chr19:56598626-56598627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112413954	chr19:56598639-56598640	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540883773	chr19:56598643-56598644	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554504141	chr19:56598645-56598646	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs386811166	chr19:56598651-56598652	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs525270	chr19:56598653-56598654	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs604364	chr19:56598660-56598661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531803267	chr19:56598664-56598665	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541973416	chr19:56598667-56598668	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149746997	chr19:56598679-56598680	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527687705	chr19:56598680-56598681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565248494	chr19:56598688-56598689	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs78054037	chr19:56598693-56598694	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532301917	chr19:56598729-56598730	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563390921	chr19:56598742-56598743	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551925143	chr19:56598764-56598765	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371172306	chr19:56598765-56598766	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576768596	chr19:56598781-56598782	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568975113	chr19:56598793-56598794	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537909098	chr19:56598800-56598801	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
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
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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56599400	Weak transcription	Colon Smooth Muscle	Colon
2	chr19:56592600-56599800	Weak transcription	Aorta	Aorta
3	chr19:56592600-56600000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:56592600-56600000	Weak transcription	Hela-S3	cervix
5	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
6	chr19:56592800-56598600	Weak transcription	Ovary	ovary
7	chr19:56592800-56599800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:56592800-56600000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:56592800-56600000	Weak transcription	Dnd41	blood
10	chr19:56592800-56601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:56592800-56602200	Weak transcription	NH-A	brain
12	chr19:56592800-56602400	Weak transcription	Brain Anterior Caudate	brain
13	chr19:56592800-56602800	Weak transcription	Right Atrium	heart
14	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:56593000-56598600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:56593000-56599800	Weak transcription	Adipose Nuclei	Adipose
17	chr19:56593000-56599800	Weak transcription	Liver	Liver
18	chr19:56593000-56599800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:56593000-56599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:56593000-56599800	Weak transcription	Small Intestine	intestine
21	chr19:56593000-56600000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr19:56593000-56600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:56593000-56600000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56593000-56600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:56593000-56600000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:56593000-56600400	Weak transcription	HepG2	liver
27	chr19:56593000-56600400	Weak transcription	NHDF-Ad	bronchial
28	chr19:56593000-56600600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:56593000-56601000	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:56593000-56601600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:56593000-56602200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:56593000-56602200	Weak transcription	Brain Substantia Nigra	brain
33	chr19:56593000-56602400	Weak transcription	Osteobl	bone
34	chr19:56593000-56606400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:56593200-56600800	Weak transcription	Primary B cells from cord blood	blood
40	chr19:56593200-56600800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:56593400-56598800	Weak transcription	Fetal Intestine Large	intestine
42	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
43	chr19:56593800-56598800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:56593800-56600400	Weak transcription	Fetal Brain Female	brain
45	chr19:56594200-56599600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:56594200-56600000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
48	chr19:56595000-56598400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr19:56595200-56601000	Weak transcription	K562	blood
50	chr19:56595400-56600000	Weak transcription	H9 Cell Line	embryonic stem cell

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