Variant report

Variant	nsv828474
Chromosome Location	chr19:18975942-18978783
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18977021..18977863-chr19:19051957..19052867,2	MCF-7	breast:
2	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
3	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
4	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
5	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
6	chr19:18977096..18978227-chr19:19097259..19098244,6	K562	blood:
7	chr19:18705056..18705581-chr19:18976858..18977563,2	MCF-7	breast:
8	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:
9	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
10	chr19:18977248..18977957-chr19:19026218..19027076,2	MCF-7	breast:
11	chr19:18974657..18976730-chr19:18979703..18982678,3	MCF-7	breast:
12	chr19:18976763..18977741-chr19:19007184..19008142,2	MCF-7	breast:
13	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
14	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
15	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
16	chr19:18977079..18977984-chr19:19097300..19098157,3	MCF-7	breast:
17	chr19:18960784..18962475-chr19:18978438..18980131,2	K562	blood:
18	chr19:18971565..18973286-chr19:18974759..18978093,5	MCF-7	breast:
19	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
20	chr19:18951537..18953798-chr19:18974374..18976491,2	K562	blood:
21	chr19:18977071..18977951-chr19:19051666..19052520,2	K562	blood:
22	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
23	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269694	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000223802	chromatin interactions
ENSG00000051128	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143272545	chr19:18975962-18975963	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538807946	chr19:18975970-18975971	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559543116	chr19:18975979-18975980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560523571	chr19:18975981-18975982	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529771347	chr19:18976012-18976013	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372261124	chr19:18976057-18976058	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144600297	chr19:18976153-18976154	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375690310	chr19:18976154-18976155	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371146514	chr19:18976204-18976205	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374505878	chr19:18976251-18976252	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369028382	chr19:18976267-18976268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201930024	chr19:18976288-18976289	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191847010	chr19:18976295-18976296	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200672817	chr19:18976296-18976297	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146682701	chr19:18976303-18976304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528392980	chr19:18976313-18976314	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76650420	chr19:18976323-18976324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567649928	chr19:18976327-18976328	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374827956	chr19:18976342-18976343	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200015046	chr19:18976343-18976344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376681085	chr19:18976404-18976405	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550009751	chr19:18976408-18976409	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139317612	chr19:18976409-18976410	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570091602	chr19:18976415-18976416	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144073786	chr19:18976433-18976434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146339873	chr19:18976449-18976450	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77745099	chr19:18976454-18976455	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150498421	chr19:18976460-18976461	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140671518	chr19:18976484-18976485	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199878035	chr19:18976485-18976486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75906703	chr19:18976504-18976505	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142907537	chr19:18976527-18976528	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151123373	chr19:18976560-18976561	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370175489	chr19:18976573-18976574	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151048153	chr19:18976575-18976576	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374895538	chr19:18976595-18976596	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368417471	chr19:18976620-18976621	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372984189	chr19:18976634-18976635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189373439	chr19:18976635-18976636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201892371	chr19:18976637-18976638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545728881	chr19:18976644-18976645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192755272	chr19:18976668-18976669	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150126492	chr19:18976726-18976727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528430715	chr19:18976735-18976736	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548518817	chr19:18976757-18976758	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372845348	chr19:18976835-18976836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368638196	chr19:18976870-18976871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200948107	chr19:18976873-18976874	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs140929349	chr19:18976912-18976913	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs561916655	chr19:18976954-18976955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18951800-18977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18953200-18977600	Weak transcription	Fetal Heart	heart
3	chr19:18954800-18979800	Strong transcription	Dnd41	blood
4	chr19:18956200-18978400	Strong transcription	Thymus	Thymus
5	chr19:18958200-18977000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:18958400-18977600	Strong transcription	Fetal Intestine Large	intestine
7	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
11	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:18958600-18976200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
20	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18959000-18979000	Strong transcription	Gastric	stomach
22	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
24	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:18960400-18977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
29	chr19:18960600-18977000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:18961000-18979200	Strong transcription	Osteobl	bone
39	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
45	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:18961600-18979800	Strong transcription	NHLF	lung
48	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
49	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial

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