Variant report

Variant	nsv584039
Chromosome Location	chr2:188435643-188482933
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188440243..188443082-chr2:188444632..188448024,3	K562	blood:
2	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
3	chr2:188458841..188460185-chr2:189376734..189377597,3	MCF-7	breast:
4	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:
5	chr2:188418788..188421724-chr2:188436390..188438263,2	K562	blood:
6	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
7	chr2:188459276..188460160-chr2:189841055..189841647,2	MCF-7	breast:
8	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
9	chr1:146713788..146714307-chr2:188445941..188446637,2	MCF-7	breast:
10	chr2:188449920..188452608-chr2:188452638..188454975,2	K562	blood:
11	chr2:188440243..188443082-chr2:188444632..188448024,3	K562	blood:
12	chr2:188460269..188463083-chr2:188643990..188646491,2	K562	blood:
13	chr2:188360925..188366256-chr2:188443265..188447959,7	K562	blood:
14	chr2:188362272..188363211-chr2:188445966..188446643,3	MCF-7	breast:
15	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
16	chr2:188366835..188367676-chr2:188445069..188445969,2	MCF-7	breast:
17	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
18	chr2:263068..264963-chr2:188441341..188443685,2	MCF-7	breast:
19	chr2:188449920..188452608-chr2:188452638..188454975,2	K562	blood:
20	chr2:188430133..188432200-chr2:188438721..188440616,2	K562	blood:
21	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
22	chr2:188440946..188443688-chr2:188443875..188445768,2	MCF-7	breast:
23	chr2:188445112..188445612-chr2:223767773..223768610,2	K562	blood:
24	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
25	chr2:188445783..188446859-chr2:188707667..188708674,8	MCF-7	breast:
26	chr2:188362271..188363016-chr2:188446864..188447543,2	MCF-7	breast:
27	chr2:188365429..188366272-chr2:188444751..188446554,9	K562	blood:
28	chr2:188366744..188369184-chr2:188446137..188447850,2	K562	blood:
29	chr2:187752239..187754172-chr2:188437559..188440188,2	K562	blood:
30	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
31	chr2:188443788..188447797-chr2:188450278..188454059,4	K562	blood:
32	chr2:188433750..188436567-chr2:188440064..188442739,2	K562	blood:
33	chr2:188433750..188436567-chr2:188440064..188442739,2	K562	blood:
34	chr2:188445350..188448050-chr2:188450278..188452976,4	K562	blood:
35	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
36	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
37	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
38	chr2:188415101..188417280-chr2:188445536..188447377,2	K562	blood:
39	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
40	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
41	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:
42	chr2:188445739..188446515-chr2:188708197..188708735,2	MCF-7	breast:
43	chr2:188446227..188446782-chr2:189376811..189377413,2	K562	blood:
44	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
45	chr2:188445350..188448050-chr2:188450278..188452976,4	K562	blood:
46	chr2:188440946..188443688-chr2:188443875..188445768,2	MCF-7	breast:
47	chr16:73088044..73089636-chr2:188441847..188444162,2	MCF-7	breast:
48	chr2:188443788..188447797-chr2:188450278..188454059,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000035115	chromatin interactions
ENSG00000143727	chromatin interactions
ENSG00000131778	chromatin interactions
ENSG00000224063	chromatin interactions
ENSG00000003436	chromatin interactions

Extended variants
information (count: 1099 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6730608	chr2:188435643-188435644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553896752	chr2:188435668-188435669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372247372	chr2:188435672-188435673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141835260	chr2:188435699-188435700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535852266	chr2:188435761-188435762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62172457	chr2:188435840-188435841	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576682014	chr2:188435848-188435849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528984611	chr2:188435850-188435851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7583251	chr2:188435851-188435852	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558727637	chr2:188435857-188435858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146281361	chr2:188435927-188435928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139303232	chr2:188435975-188435976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200291821	chr2:188435988-188435989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141756481	chr2:188436036-188436037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574804262	chr2:188436041-188436042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150562938	chr2:188436058-188436059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563665182	chr2:188436073-188436074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6434224	chr2:188436096-188436097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550009225	chr2:188436145-188436146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192888715	chr2:188436152-188436153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558115029	chr2:188436165-188436166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79787699	chr2:188436189-188436190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71017399	chr2:188436204-188436205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532346736	chr2:188436224-188436225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59650207	chr2:188436237-188436238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565767138	chr2:188436239-188436240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79723350	chr2:188436252-188436253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185436203	chr2:188436263-188436264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7597576	chr2:188436287-188436288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189485449	chr2:188436345-188436346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558812886	chr2:188436366-188436367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147798831	chr2:188436424-188436425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576091659	chr2:188436444-188436445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191565672	chr2:188436445-188436446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542164184	chr2:188436456-188436457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553084467	chr2:188436495-188436496	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371633782	chr2:188436496-188436497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375919851	chr2:188436519-188436520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550372329	chr2:188436520-188436521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7597815	chr2:188436536-188436537	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs541525578	chr2:188436556-188436557	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563543341	chr2:188436664-188436665	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10168929	chr2:188436682-188436683	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543787408	chr2:188436689-188436690	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4427985	chr2:188436754-188436755	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368975176	chr2:188436780-188436781	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559473581	chr2:188436792-188436793	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529753034	chr2:188436837-188436838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548224875	chr2:188436851-188436852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577838364	chr2:188436852-188436853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188419400-188445400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:188431000-188438400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:188431800-188438600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188433000-188437000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:188434200-188437000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:188434400-188435800	Enhancers	HUVEC	blood vessel
7	chr2:188435400-188439600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:188435600-188439600	Weak transcription	HepG2	liver
9	chr2:188435800-188436000	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr2:188435800-188436200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:188435800-188439400	Weak transcription	HUVEC	blood vessel
12	chr2:188436000-188436600	Weak transcription	Psoas Muscle	Psoas
13	chr2:188436600-188436800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr2:188437000-188437200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr2:188437200-188439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:188438400-188438800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr2:188438400-188438800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:188438600-188438800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr2:188438600-188438800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:188438800-188439400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:188438800-188439600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:188438800-188439600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:188438800-188439800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:188438800-188439800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:188439400-188439600	Enhancers	HUVEC	blood vessel
26	chr2:188439400-188440600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:188439400-188440800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:188439400-188441000	Enhancers	Osteobl	bone
29	chr2:188439400-188442400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:188439600-188439800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:188439600-188439800	Enhancers	Fetal Intestine Large	intestine
32	chr2:188439600-188439800	Enhancers	Fetal Lung	lung
33	chr2:188439600-188439800	Enhancers	A549	lung
34	chr2:188439600-188440000	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:188439600-188440000	Enhancers	NHLF	lung
36	chr2:188439600-188440200	Enhancers	NH-A	brain
37	chr2:188439600-188440200	Enhancers	NHDF-Ad	bronchial
38	chr2:188439600-188440400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:188439600-188440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:188439600-188440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:188439600-188440400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:188439600-188440400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:188439600-188440400	Enhancers	HSMMtube	muscle
44	chr2:188439600-188440600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:188439600-188440600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:188439600-188440600	Enhancers	HSMM	muscle
47	chr2:188439600-188440800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:188439600-188440800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:188439600-188440800	Enhancers	Liver	Liver
50	chr2:188439600-188440800	Enhancers	Fetal Kidney	kidney

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