Variant report

Variant	nsv460067
Chromosome Location	chr2:212313400-212378242
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212320246..212322831-chr2:212376794..212379145,2	MCF-7	breast:
2	chr2:212318807..212321033-chr2:212328093..212330095,2	MCF-7	breast:
3	chr2:212328628..212332038-chr2:212332518..212335674,3	MCF-7	breast:
4	chr2:212366946..212368723-chr2:212370212..212371913,2	K562	blood:
5	chr17:57933020..57935872-chr2:212325257..212328116,2	MCF-7	breast:
6	chr1:203274022..203274758-chr2:212363047..212363985,2	MCF-7	breast:
7	chr2:212349648..212351176-chr2:212354643..212357480,2	MCF-7	breast:
8	chr2:212320246..212322831-chr2:212376794..212379145,2	MCF-7	breast:
9	chr2:212349648..212351176-chr2:212354643..212357480,2	MCF-7	breast:
10	chr2:212352611..212354767-chr2:212356529..212358511,2	MCF-7	breast:
11	chr2:212352611..212354767-chr2:212356529..212358511,2	MCF-7	breast:
12	chr2:212328628..212332038-chr2:212332518..212335674,3	MCF-7	breast:
13	chr2:212318807..212321033-chr2:212328093..212330095,2	MCF-7	breast:
14	chr2:212366946..212368723-chr2:212370212..212371913,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159388	chromatin interactions
ENSG00000233791	chromatin interactions

Extended variants
information (count: 2560 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2560 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17747388	chr2:212313400-212313401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182227357	chr2:212313446-212313447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187694563	chr2:212313479-212313480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193123818	chr2:212313525-212313526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7601019	chr2:212313536-212313537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35445450	chr2:212313607-212313608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577227465	chr2:212313646-212313647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183927641	chr2:212313697-212313698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13390068	chr2:212313807-212313808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114568169	chr2:212313827-212313828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114210411	chr2:212313828-212313829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149942782	chr2:212313888-212313889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572571118	chr2:212313889-212313890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146327073	chr2:212313896-212313897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537359056	chr2:212313914-212313915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1836750	chr2:212313926-212313927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533369233	chr2:212313946-212313947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115473527	chr2:212313958-212313959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563815857	chr2:212313972-212313973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529353200	chr2:212313995-212313996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548139240	chr2:212314025-212314026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549188676	chr2:212314052-212314053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573834294	chr2:212314101-212314102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1992029	chr2:212314132-212314133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534783809	chr2:212314155-212314156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551264573	chr2:212314170-212314171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552884674	chr2:212314202-212314203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188524559	chr2:212314204-212314205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536688062	chr2:212314225-212314226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536686270	chr2:212314232-212314233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556557162	chr2:212314242-212314243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139644842	chr2:212314247-212314248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193066212	chr2:212314252-212314253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552996047	chr2:212314272-212314273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201646636	chr2:212314306-212314307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17804031	chr2:212314308-212314309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541568098	chr2:212314350-212314351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564819435	chr2:212314430-212314431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532216667	chr2:212314476-212314477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6712900	chr2:212314477-212314478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78996717	chr2:212314503-212314504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188644517	chr2:212314521-212314522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551929179	chr2:212314550-212314551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549226899	chr2:212314608-212314609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191647598	chr2:212314688-212314689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183870348	chr2:212314693-212314694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558992983	chr2:212314736-212314737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577789158	chr2:212314741-212314742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144312789	chr2:212314775-212314776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189315940	chr2:212314794-212314795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212303000-212313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:212304600-212317800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212313400-212314600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:212315800-212316400	Enhancers	Fetal Lung	lung
5	chr2:212316200-212316400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:212316400-212319600	Weak transcription	Fetal Lung	lung
7	chr2:212317800-212320400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:212318200-212318400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212318400-212319400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:212319000-212319400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:212319200-212319600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:212319200-212320000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:212319200-212320400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:212319400-212319600	Enhancers	Brain Anterior Caudate	brain
15	chr2:212319400-212319800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:212319400-212319800	Enhancers	Pancreas	Pancrea
17	chr2:212319400-212320200	Enhancers	Brain Germinal Matrix	brain
18	chr2:212319400-212320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:212319400-212320400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:212319600-212319800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:212319600-212319800	Enhancers	Fetal Brain Male	brain
22	chr2:212319600-212319800	Enhancers	Fetal Lung	lung
23	chr2:212319600-212320000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:212319600-212320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:212319600-212320000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:212319600-212320000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr2:212319600-212320400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:212319600-212320400	Enhancers	Brain Substantia Nigra	brain
29	chr2:212319800-212320000	Active TSS	Brain Hippocampus Middle	brain
30	chr2:212319800-212320000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:212319800-212320200	Weak transcription	Fetal Lung	lung
32	chr2:212319800-212320400	Active TSS	Fetal Brain Male	brain
33	chr2:212319800-212322200	Weak transcription	Pancreas	Pancrea
34	chr2:212320000-212320200	Active TSS	Brain Anterior Caudate	brain
35	chr2:212320000-212328000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:212320200-212320800	Enhancers	Fetal Lung	lung
37	chr2:212320400-212324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:212320400-212332800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:212320800-212322200	Weak transcription	Fetal Lung	lung
40	chr2:212322200-212322400	Enhancers	Fetal Lung	lung
41	chr2:212322200-212322400	Enhancers	Pancreas	Pancrea
42	chr2:212322200-212322800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:212322400-212327400	Weak transcription	Pancreas	Pancrea
44	chr2:212324200-212324400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:212324400-212330600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:212327800-212328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:212328000-212328400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:212328000-212328800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:212328000-212328800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:212328000-212328800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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