Variant report

Variant	nsv872954
Chromosome Location	chr1:196304863-196387809
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
2	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
3	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
4	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:
5	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:
6	chr1:196324467..196324970-chr1:196629741..196630381,2	MCF-7	breast:
7	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
8	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:
9	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
10	chr1:196360024..196360898-chr9:82652545..82653460,2	MCF-7	breast:
11	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:
12	chr1:196366632..196369217-chr1:212900913..212902488,2	K562	blood:
13	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
14	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
15	chr1:196286838..196288124-chr1:196341989..196342693,3	MCF-7	breast:
16	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
17	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
18	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
19	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
20	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:
21	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:
22	chr1:196373223..196374737-chr1:196383662..196386245,2	MCF-7	breast:
23	chr1:196329014..196330703-chr1:196333342..196336089,2	K562	blood:
24	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
25	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
26	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
27	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
28	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
29	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
30	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
31	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
32	chr1:196373223..196374737-chr1:196383662..196386245,2	MCF-7	breast:
33	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
34	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:

No data

Extended variants
information (count: 3075 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3075 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7554267	chr1:196304863-196304864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112534041	chr1:196304866-196304867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567067678	chr1:196304892-196304893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531413433	chr1:196304901-196304902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113652655	chr1:196304917-196304918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190014030	chr1:196304939-196304940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538829994	chr1:196304987-196304988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150238363	chr1:196304999-196305000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138901532	chr1:196305002-196305003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536686334	chr1:196305011-196305012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182427848	chr1:196305026-196305027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186694823	chr1:196305043-196305044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370938664	chr1:196305113-196305114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564271330	chr1:196305137-196305138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558749876	chr1:196305161-196305162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74136516	chr1:196305171-196305172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544834633	chr1:196305186-196305187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560054206	chr1:196305188-196305189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191108901	chr1:196305217-196305218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113347192	chr1:196305221-196305222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184246717	chr1:196305222-196305223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547823502	chr1:196305224-196305225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531173220	chr1:196305245-196305246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143273722	chr1:196305249-196305250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564782675	chr1:196305261-196305262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559494814	chr1:196305293-196305294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530073249	chr1:196305300-196305301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548001787	chr1:196305332-196305333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575189410	chr1:196305374-196305375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188751059	chr1:196305381-196305382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536926230	chr1:196305399-196305400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117398755	chr1:196305402-196305403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570049584	chr1:196305411-196305412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548172261	chr1:196305419-196305420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537025523	chr1:196305430-196305431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559015802	chr1:196305580-196305581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577255708	chr1:196305582-196305583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147114630	chr1:196305589-196305590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570040761	chr1:196305591-196305592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538489792	chr1:196305592-196305593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147002745	chr1:196305595-196305596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193189192	chr1:196305607-196305608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185086982	chr1:196305658-196305659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138594184	chr1:196305670-196305671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188965036	chr1:196305712-196305713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560820702	chr1:196305795-196305796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115680819	chr1:196305806-196305807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575992527	chr1:196305854-196305855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143408263	chr1:196305865-196305866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553073537	chr1:196305882-196305883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196266200-196309600	Weak transcription	Fetal Kidney	kidney
2	chr1:196273000-196313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:196275800-196313000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:196276000-196305000	Weak transcription	Fetal Lung	lung
5	chr1:196279400-196314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196298000-196313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:196298800-196311200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:196300200-196313600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:196300400-196308200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:196301800-196313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:196303200-196305400	Weak transcription	Liver	Liver
12	chr1:196303200-196308200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:196303200-196311000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:196303200-196311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:196303200-196312000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:196303200-196332600	Weak transcription	Ovary	ovary
17	chr1:196304200-196307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:196304200-196307600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:196305400-196309200	Strong transcription	Liver	Liver
20	chr1:196306800-196314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:196307600-196309200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:196307600-196310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:196308200-196308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:196308200-196309200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:196308800-196313200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:196309200-196312000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:196309200-196313600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:196309200-196315600	Weak transcription	Liver	Liver
29	chr1:196310400-196311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:196310600-196317400	Weak transcription	Fetal Brain Male	brain
31	chr1:196311000-196314800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:196311200-196312400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:196311200-196314800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:196311200-196315000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:196311600-196312400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:196312000-196312200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:196312000-196312600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:196312000-196314600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:196312200-196312400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:196312400-196313400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:196312400-196313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:196312400-196313600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:196312600-196313000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:196313000-196314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:196313000-196314800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:196313200-196314600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:196313400-196314400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:196313400-196314400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:196313400-196314600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:196313400-196314600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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