Variant report

Variant	nsv875375
Chromosome Location	chr2:167515013-167703912
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:0)
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	chr2:167695022..167695792-chr4:154406761..154407344,2	MCF-7	breast:
2	chr2:167639180..167641951-chr2:167643645..167645176,2	K562	blood:
3	chr2:167639180..167641951-chr2:167643645..167645176,2	K562	blood:
4	chr2:167536393..167537899-chr2:167538278..167540940,2	K562	blood:
5	chr2:167583643..167586491-chr2:167588545..167591406,2	K562	blood:
6	chr2:167395743..167396509-chr2:167556667..167557193,2	MCF-7	breast:
7	chr2:167583643..167586491-chr2:167588545..167591406,2	K562	blood:
8	chr2:167536393..167537899-chr2:167538278..167540940,2	K562	blood:

No data

Extended variants
information (count: 2378 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2378 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569029317	chr2:167517208-167517209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537823970	chr2:167517211-167517212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185742842	chr2:167517212-167517213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570407230	chr2:167517238-167517239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539400785	chr2:167517291-167517292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190165915	chr2:167517313-167517314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528999450	chr2:167517395-167517396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549282054	chr2:167517416-167517417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376966458	chr2:167517441-167517442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569507780	chr2:167517504-167517505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553237145	chr2:167517516-167517517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79515678	chr2:167517536-167517537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146735007	chr2:167517545-167517546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555475712	chr2:167517573-167517574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575439568	chr2:167517589-167517590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75155906	chr2:167517656-167517657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141345036	chr2:167517681-167517682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557832749	chr2:167517682-167517683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577569845	chr2:167517691-167517692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117589790	chr2:167517743-167517744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4274612	chr2:167517745-167517746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150782997	chr2:167517753-167517754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552150413	chr2:167517761-167517762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181867663	chr2:167517814-167517815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571973665	chr2:167517861-167517862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184039975	chr2:167517875-167517876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551360951	chr2:167517916-167517917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571505553	chr2:167517919-167517920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114764712	chr2:167518006-167518007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16852457	chr2:167518019-167518020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73970032	chr2:167518094-167518095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375410551	chr2:167518146-167518147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535623518	chr2:167518150-167518151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556731682	chr2:167518171-167518172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568969389	chr2:167518172-167518173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180696587	chr2:167518210-167518211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185267988	chr2:167518241-167518242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577784842	chr2:167518246-167518247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577531414	chr2:167518247-167518248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567628205	chr2:167518277-167518278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540242642	chr2:167518285-167518286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369967752	chr2:167518327-167518328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35153757	chr2:167518354-167518355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138102272	chr2:167518400-167518401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143142806	chr2:167518425-167518426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77412178	chr2:167518533-167518534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190953853	chr2:167518580-167518581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147489754	chr2:167518581-167518582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377344865	chr2:167518624-167518625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560371973	chr2:167518659-167518660	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Epilepsy	21204806	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167517200-167518800	Enhancers	Fetal Heart	heart
2	chr2:167518800-167520600	Weak transcription	Fetal Heart	heart
3	chr2:167520600-167520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:167520600-167521000	Enhancers	Fetal Heart	heart
5	chr2:167520800-167522000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:167521000-167521200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:167521000-167522400	Weak transcription	Fetal Heart	heart
8	chr2:167521200-167522600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:167522000-167522800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:167522000-167522800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:167522200-167523000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:167522200-167523000	Enhancers	NH-A	brain
13	chr2:167522600-167522800	Enhancers	Fetal Heart	heart
14	chr2:167522600-167523000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:167522800-167523600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:167523600-167528400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:167527600-167528000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:167527800-167528600	Enhancers	Brain Germinal Matrix	brain
19	chr2:167528400-167528800	Enhancers	Fetal Brain Male	brain
20	chr2:167528400-167529000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:167528600-167528800	Enhancers	Left Ventricle	heart
22	chr2:167528800-167532000	Weak transcription	Left Ventricle	heart
23	chr2:167532000-167532400	Enhancers	Left Ventricle	heart
24	chr2:167532200-167532800	Enhancers	Fetal Heart	heart
25	chr2:167533000-167535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:167533200-167533400	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:167533400-167533800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:167533400-167534200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:167533400-167535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:167533800-167534200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:167534200-167535200	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:167534200-167535400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:167557800-167558200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:167581800-167582000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:167582000-167583000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:167582200-167583800	Enhancers	HepG2	liver
37	chr2:167582400-167582800	Enhancers	Liver	Liver
38	chr2:167582800-167583200	Weak transcription	Liver	Liver
39	chr2:167582800-167584400	Enhancers	Primary B cells from cord blood	blood
40	chr2:167583000-167583600	Enhancers	GM12878-XiMat	blood
41	chr2:167583000-167584000	Enhancers	Primary hematopoietic stem cells	blood
42	chr2:167583000-167584400	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:167583000-167584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:167583200-167583600	Enhancers	Liver	Liver
45	chr2:167583800-167584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:167597200-167600600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:167597200-167602600	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr2:167599800-167601000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr2:167599800-167602400	ZNF genes & repeats	Liver	Liver
50	chr2:167600000-167600400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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