Variant report

Variant	nsv873141
Chromosome Location	chr1:210228131-210296910
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210289977..210291636-chr1:210546709..210548548,2	K562	blood:
2	chr1:210263054..210265435-chr1:210545571..210548117,2	MCF-7	breast:
3	chr1:210229763..210232380-chr1:210235609..210237993,2	K562	blood:
4	chr1:210229763..210232380-chr1:210235609..210237993,2	K562	blood:
5	chr1:210277431..210277931-chr2:99196921..99197422,2	NB4	blood:
6	chr1:210228228..210229728-chr17:41380699..41382231,2	K562	blood:
7	chr1:210228228..210229747-chr11:62607637..62610646,3	K562	blood:
8	chr1:210226748..210229748-chr17:41465601..41467829,3	MCF-7	breast:
9	chr1:210228227..210229747-chr17:41399213..41401802,2	K562	blood:
10	chr1:210228227..210229728-chr17:41380699..41383498,2	K562	blood:
11	chr1:210291718..210293860-chr1:210544632..210547105,2	K562	blood:
12	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
13	chr1:210253121..210255140-chr1:210544915..210547791,2	MCF-7	breast:
14	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
15	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
16	chr1:210225380..210227155-chr1:210230705..210233620,2	K562	blood:
17	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
18	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
19	chr1:210191948..210194916-chr1:210232522..210235373,2	K562	blood:
20	chr1:210225380..210227354-chr1:210231385..210234453,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000143469	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 2377 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2377 , 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	rs2743891	chr1:210228131-210228132	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535822648	chr1:210228133-210228134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151069054	chr1:210228152-210228153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541267885	chr1:210228186-210228187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559569126	chr1:210228203-210228204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578018046	chr1:210228238-210228239	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2743890	chr1:210228273-210228274	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563563263	chr1:210228277-210228278	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs185110839	chr1:210228288-210228289	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs548918444	chr1:210228290-210228291	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560699636	chr1:210228303-210228304	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs140783279	chr1:210228310-210228311	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546825113	chr1:210228313-210228314	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs189919914	chr1:210228353-210228354	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571486198	chr1:210228404-210228405	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369687037	chr1:210228475-210228476	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369999889	chr1:210228499-210228500	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs539196345	chr1:210228505-210228506	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551008178	chr1:210228563-210228564	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs144423481	chr1:210228623-210228624	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147812324	chr1:210228732-210228733	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141332209	chr1:210228734-210228735	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573409258	chr1:210228778-210228779	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147018542	chr1:210228801-210228802	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564862425	chr1:210228840-210228841	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs372338162	chr1:210228848-210228849	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs559063252	chr1:210228852-210228853	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113863171	chr1:210228873-210228874	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs577925268	chr1:210228884-210228885	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs2743889	chr1:210228889-210228890	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183213984	chr1:210228894-210228895	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs575492927	chr1:210228896-210228897	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs112546245	chr1:210228940-210228941	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs111235975	chr1:210228950-210228951	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs532730538	chr1:210228954-210228955	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs188621056	chr1:210228965-210228966	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs560535032	chr1:210228987-210228988	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs72649944	chr1:210228989-210228990	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557686013	chr1:210228998-210228999	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546312544	chr1:210228999-210229000	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs564606203	chr1:210229051-210229052	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs2636373	chr1:210229086-210229087	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12069524	chr1:210229097-210229098	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs79686437	chr1:210229137-210229138	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551150697	chr1:210229138-210229139	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs61826849	chr1:210229139-210229140	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs569490433	chr1:210229172-210229173	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529097452	chr1:210229206-210229207	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs145068365	chr1:210229228-210229229	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548627962	chr1:210229233-210229234	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210221400-210243200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:210223600-210245600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210224400-210231200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210224400-210250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210231200-210232200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210231600-210232200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:210232200-210235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210234200-210234400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:210234400-210234600	Enhancers	Brain Germinal Matrix	brain
10	chr1:210234400-210235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:210234400-210236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:210234600-210235400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:210235200-210235600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:210235200-210236000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210235400-210236000	Enhancers	Brain Germinal Matrix	brain
16	chr1:210235400-210236000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:210235600-210238000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:210238000-210238600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210238600-210243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:210239600-210243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:210242600-210242800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:210242800-210245800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:210243200-210244400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:210243200-210244400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:210243200-210247000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210243200-210247200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:210243400-210243800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:210243600-210243800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:210243600-210244000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:210243600-210244200	Enhancers	Brain Anterior Caudate	brain
31	chr1:210243800-210244200	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:210243800-210244600	Enhancers	Brain Germinal Matrix	brain
33	chr1:210243800-210245600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:210244000-210244400	Enhancers	Fetal Brain Male	brain
35	chr1:210244000-210245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:210244000-210245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:210244200-210248400	Weak transcription	Brain Anterior Caudate	brain
38	chr1:210244400-210244800	Weak transcription	Fetal Brain Male	brain
39	chr1:210244400-210245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:210244400-210250000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:210244600-210245600	Weak transcription	Brain Germinal Matrix	brain
42	chr1:210244800-210245000	Enhancers	Fetal Brain Male	brain
43	chr1:210245000-210245800	Weak transcription	Fetal Brain Male	brain
44	chr1:210245200-210247600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:210245600-210245800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:210245600-210245800	Enhancers	Brain Angular Gyrus	brain
47	chr1:210245600-210246000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:210245600-210246800	Enhancers	Brain Germinal Matrix	brain
49	chr1:210245600-210247000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:210245600-210248000	Enhancers	HUES64 Cell Line	embryonic stem cell

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