Variant report

Variant	nsv946509
Chromosome Location	chr1:173703318-173711106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:173705415-173705528	GM20000	blood:	n/a	n/a
2	HCFC1	chr1:173703355-173703376	K562	blood:	n/a	n/a
3	JUN	chr1:173703803-173703818	K562	blood:	n/a	n/a
4	POLR2A	chr1:173708293-173708344	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:173707438-173707505	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:173710747-173710917	GM12878	blood:	n/a	n/a
7	ZNF384	chr1:173708679-173708689	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173701895..173703429-chr1:173835621..173837927,2	MCF-7	breast:
2	chr1:173702803..173705029-chr1:173705548..173707166,2	K562	blood:
3	chr1:173683476..173686159-chr1:173702055..173703669,2	K562	blood:
4	chr1:173702803..173705029-chr1:173705548..173707166,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DARS2-4	chr1:173710813-173711067	NONHSAT007649

No data

Variant related genes	Relation type
ENSG00000225591	TF binding region
ENSG00000185278	chromatin interactions
ENSG00000076321	chromatin interactions
ENSG00000234741	chromatin interactions

Extended variants
information (count: 284 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151035982	chr1:173703338-173703339	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs146893194	chr1:173703376-173703377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572559287	chr1:173703390-173703391	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376058252	chr1:173703399-173703400	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs535319201	chr1:173703405-173703406	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs199856641	chr1:173703412-173703413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs138325761	chr1:173703449-173703450	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368322498	chr1:173703456-173703457	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35770625	chr1:173703461-173703462	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375739491	chr1:173703471-173703472	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370041458	chr1:173703482-173703483	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189915229	chr1:173703529-173703530	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149198812	chr1:173703627-173703628	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201082974	chr1:173703658-173703659	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181707187	chr1:173703659-173703660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6673879	chr1:173703667-173703668	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541786067	chr1:173703668-173703669	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369203145	chr1:173703673-173703674	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74126407	chr1:173703674-173703675	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34144546	chr1:173703684-173703685	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529307890	chr1:173703839-173703840	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542706036	chr1:173703852-173703853	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12083064	chr1:173703919-173703920	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12098124	chr1:173703928-173703929	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543486484	chr1:173703935-173703936	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143333518	chr1:173704020-173704021	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55657198	chr1:173704101-173704102	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183021327	chr1:173704108-173704109	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551984685	chr1:173704110-173704111	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563358375	chr1:173704215-173704216	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75265251	chr1:173704219-173704220	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527955117	chr1:173704311-173704312	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185071656	chr1:173704338-173704339	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113130143	chr1:173704339-173704340	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535444496	chr1:173704342-173704343	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544488409	chr1:173704349-173704350	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112352858	chr1:173704368-173704369	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548745204	chr1:173704406-173704407	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563347437	chr1:173704412-173704413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112579850	chr1:173704433-173704434	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537575920	chr1:173704441-173704442	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557512485	chr1:173704509-173704510	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563182009	chr1:173704522-173704523	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138221867	chr1:173704540-173704541	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558905810	chr1:173704544-173704545	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554037355	chr1:173704576-173704577	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75950076	chr1:173704589-173704590	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60081642	chr1:173704590-173704591	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397957203	chr1:173704604-173704605	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150667933	chr1:173704605-173704606	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
2	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
6	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
8	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
11	chr1:173694600-173704000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:173694600-173706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173694600-173708000	Weak transcription	Fetal Heart	heart
14	chr1:173694600-173724800	Weak transcription	HMEC	breast
15	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
16	chr1:173695000-173718000	Weak transcription	A549	lung
17	chr1:173695400-173704800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:173695600-173721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:173695800-173710000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
24	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:173696400-173703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:173696600-173721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
31	chr1:173700400-173704800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:173702200-173703400	ZNF genes & repeats	Fetal Stomach	stomach
33	chr1:173702200-173703600	Strong transcription	Pancreas	Pancrea
34	chr1:173702200-173704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:173702200-173704600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:173702200-173705000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:173702200-173705000	Strong transcription	Lung	lung
38	chr1:173702200-173705400	Strong transcription	Thymus	Thymus
39	chr1:173702200-173705600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:173702400-173704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:173702400-173704800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:173702400-173705400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:173702400-173706800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:173702600-173704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:173702600-173704200	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:173702600-173704400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:173702600-173704400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:173702600-173704400	Strong transcription	Stomach Smooth Muscle	stomach

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