Variant report

Variant	nsv947335
Chromosome Location	chr1:173455122-173458140
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	chr1:173457707..173460161-chr1:173792574..173794967,2	K562	blood:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173455943..173458874-chr1:173472089..173474445,2	MCF-7	breast:
4	chr1:173454021..173455524-chr1:173471878..173474498,2	K562	blood:
5	chr1:173454886..173456981-chr1:173791612..173793334,2	K562	blood:
6	chr1:173398971..173403137-chr1:173453478..173457136,4	K562	blood:
7	chr1:173457504..173459269-chr1:173764576..173766999,2	K562	blood:
8	chr1:173449263..173452210-chr1:173453821..173456391,3	MCF-7	breast:
9	chr1:173454680..173459783-chr1:173793534..173797579,4	K562	blood:
10	chr1:173457080..173459531-chr1:173825329..173828115,2	K562	blood:
11	chr1:173450429..173453929-chr1:173454032..173458436,7	MCF-7	breast:
12	chr1:173446558..173448990-chr1:173454032..173456674,3	MCF-7	breast:
13	chr1:173445279..173447565-chr1:173456877..173458938,2	MCF-7	breast:
14	chr1:173452597..173454697-chr1:173456877..173459634,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117593	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000117592	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183516314	chr1:173455147-173455148	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs186573201	chr1:173455170-173455171	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374933310	chr1:173455202-173455203	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs75043494	chr1:173455282-173455283	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372619471	chr1:173455349-173455350	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs200558871	chr1:173455357-173455358	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376388685	chr1:173455364-173455365	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199599185	chr1:173455367-173455368	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77079548	chr1:173455373-173455374	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372012723	chr1:173455376-173455377	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs200145108	chr1:173455450-173455451	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs374164639	chr1:173455486-173455487	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs148653935	chr1:173455505-173455506	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201606821	chr1:173455511-173455512	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529302215	chr1:173455516-173455517	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs201962701	chr1:173455524-173455525	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113021188	chr1:173455528-173455529	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550921506	chr1:173455582-173455583	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs76581542	chr1:173455594-173455595	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6699179	chr1:173455643-173455644	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72709303	chr1:173455644-173455645	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192453491	chr1:173455661-173455662	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs76689955	chr1:173455686-173455687	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555043937	chr1:173455700-173455701	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573331910	chr1:173455813-173455814	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs34308867	chr1:173455823-173455824	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35605626	chr1:173455833-173455834	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs575555890	chr1:173455836-173455837	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35498561	chr1:173455854-173455855	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs115921097	chr1:173455884-173455885	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs34853351	chr1:173455885-173455886	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375436149	chr1:173455955-173455956	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528667713	chr1:173455971-173455972	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs551339739	chr1:173456003-173456004	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540767582	chr1:173456035-173456036	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs77588780	chr1:173456068-173456069	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs529340205	chr1:173456073-173456074	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs185648850	chr1:173456089-173456090	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs534152187	chr1:173456092-173456093	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs138570887	chr1:173456098-173456099	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs562839969	chr1:173456114-173456115	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs190566943	chr1:173456127-173456128	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs551378349	chr1:173456165-173456166	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs34666110	chr1:173456204-173456205	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs34396267	chr1:173456207-173456208	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs181609486	chr1:173456209-173456210	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567038556	chr1:173456214-173456215	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs537074205	chr1:173456258-173456259	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs150412665	chr1:173456265-173456266	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs35524874	chr1:173456332-173456333	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173448600-173459800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr1:173448800-173458200	Strong transcription	Primary B cells from cord blood	blood
4	chr1:173448800-173459400	Weak transcription	Stomach Mucosa	stomach
5	chr1:173448800-173460000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:173449000-173458600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:173449000-173458800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:173449000-173458800	Strong transcription	Fetal Intestine Large	intestine
9	chr1:173449000-173459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:173449000-173459400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:173449200-173456400	Strong transcription	Placenta	Placenta
12	chr1:173449200-173456600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:173449200-173457000	Strong transcription	Fetal Kidney	kidney
14	chr1:173449200-173458800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:173449200-173459600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:173449400-173456200	Weak transcription	Fetal Heart	heart
17	chr1:173449400-173457800	Strong transcription	NHDF-Ad	bronchial
18	chr1:173449400-173458000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:173449400-173458600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:173449400-173458800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:173449400-173459200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:173449600-173457400	Strong transcription	NHEK	skin
23	chr1:173449600-173458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:173449600-173458600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr1:173449600-173458600	Strong transcription	HMEC	breast
26	chr1:173449600-173458600	Strong transcription	HUVEC	blood vessel
27	chr1:173449600-173458600	Strong transcription	NH-A	brain
28	chr1:173449600-173458600	Strong transcription	Osteobl	bone
29	chr1:173449600-173458800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:173449600-173458800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:173449600-173458800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:173449600-173458800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:173449600-173458800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:173449600-173459200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:173449600-173459400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:173449600-173459400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:173449600-173459400	Strong transcription	HSMM	muscle
38	chr1:173449600-173459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:173449600-173460000	Strong transcription	A549	lung
40	chr1:173449800-173457800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:173449800-173458400	Strong transcription	Hela-S3	cervix
42	chr1:173449800-173458600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:173449800-173458800	Strong transcription	Fetal Thymus	thymus
44	chr1:173449800-173459000	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:173449800-173459200	Strong transcription	Brain Hippocampus Middle	brain
46	chr1:173449800-173459400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr1:173449800-173460000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:173450000-173458400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:173450000-173458400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:173450000-173458400	Strong transcription	NHLF	lung

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