Variant report

Variant	nsv873142
Chromosome Location	chr1:210233610-210291121
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210225380..210227155-chr1:210230705..210233620,2	K562	blood:
2	chr1:210225380..210227354-chr1:210231385..210234453,3	K562	blood:
3	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
4	chr1:210265340..210267266-chr1:210304379..210306756,2	K562	blood:
5	chr1:210289977..210291636-chr1:210546709..210548548,2	K562	blood:
6	chr1:210253121..210255140-chr1:210544915..210547791,2	MCF-7	breast:
7	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
8	chr1:210191948..210194916-chr1:210232522..210235373,2	K562	blood:
9	chr1:210229763..210232380-chr1:210235609..210237993,2	K562	blood:
10	chr1:210263270..210265480-chr1:210265960..210268374,2	K562	blood:
11	chr1:210266309..210268653-chr1:210272618..210275297,2	K562	blood:
12	chr1:210263054..210265435-chr1:210545571..210548117,2	MCF-7	breast:
13	chr1:210277431..210277931-chr2:99196921..99197422,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000143469	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 1993 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1993 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs701948	chr1:210233610-210233611	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555602823	chr1:210233717-210233718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs5780554	chr1:210233742-210233743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372449870	chr1:210233743-210233744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs33922684	chr1:210233744-210233745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573706501	chr1:210233749-210233750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540979389	chr1:210233784-210233785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559465929	chr1:210233834-210233835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562528609	chr1:210233858-210233859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145383479	chr1:210233907-210233908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539496074	chr1:210233921-210233922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546014334	chr1:210233977-210233978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564106067	chr1:210233979-210233980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116809179	chr1:210233981-210233982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549823569	chr1:210234023-210234024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192431705	chr1:210234028-210234029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558011669	chr1:210234050-210234051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs137925949	chr1:210234054-210234055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182938129	chr1:210234056-210234057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547415030	chr1:210234059-210234060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111922017	chr1:210234060-210234061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537770276	chr1:210234109-210234110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539136755	chr1:210234115-210234116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143745643	chr1:210234118-210234119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570167256	chr1:210234206-210234207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs846559	chr1:210234236-210234237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs187849736	chr1:210234255-210234256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573991329	chr1:210234291-210234292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534224439	chr1:210234299-210234300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547470242	chr1:210234309-210234310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369472007	chr1:210234350-210234351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192933626	chr1:210234351-210234352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148170157	chr1:210234391-210234392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578070463	chr1:210234393-210234394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9970894	chr1:210234464-210234465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114382729	chr1:210234482-210234483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374315054	chr1:210234505-210234506	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141976150	chr1:210234529-210234530	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184981062	chr1:210234561-210234562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529194842	chr1:210234596-210234597	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547451809	chr1:210234691-210234692	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150692602	chr1:210234714-210234715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532904754	chr1:210234721-210234722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189115841	chr1:210234722-210234723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192452938	chr1:210234728-210234729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6685704	chr1:210234768-210234769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576248150	chr1:210234784-210234785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74156287	chr1:210234787-210234788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567651501	chr1:210234816-210234817	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372306114	chr1:210234821-210234822	Enhancers Weak transcription	Chromatin interactive region	1 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:189 , 50 per page) page: 1 2 3 4

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	chr1:210224400-210250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210232200-210235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210234200-210234400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:210234400-210234600	Enhancers	Brain Germinal Matrix	brain
7	chr1:210234400-210235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:210234400-210236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:210234600-210235400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:210235200-210235600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:210235200-210236000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:210235400-210236000	Enhancers	Brain Germinal Matrix	brain
13	chr1:210235400-210236000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:210235600-210238000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:210238000-210238600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:210238600-210243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:210239600-210243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:210242600-210242800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:210242800-210245800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:210243200-210244400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:210243200-210244400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:210243200-210247000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:210243200-210247200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:210243400-210243800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:210243600-210243800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:210243600-210244000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:210243600-210244200	Enhancers	Brain Anterior Caudate	brain
28	chr1:210243800-210244200	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:210243800-210244600	Enhancers	Brain Germinal Matrix	brain
30	chr1:210243800-210245600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:210244000-210244400	Enhancers	Fetal Brain Male	brain
32	chr1:210244000-210245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:210244000-210245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:210244200-210248400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:210244400-210244800	Weak transcription	Fetal Brain Male	brain
36	chr1:210244400-210245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:210244400-210250000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:210244600-210245600	Weak transcription	Brain Germinal Matrix	brain
39	chr1:210244800-210245000	Enhancers	Fetal Brain Male	brain
40	chr1:210245000-210245800	Weak transcription	Fetal Brain Male	brain
41	chr1:210245200-210247600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:210245600-210245800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:210245600-210245800	Enhancers	Brain Angular Gyrus	brain
44	chr1:210245600-210246000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:210245600-210246800	Enhancers	Brain Germinal Matrix	brain
46	chr1:210245600-210247000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:210245600-210248000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:210245600-210248400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:210245600-210248600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:210245600-210248600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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