Variant report

Variant	nsv945431
Chromosome Location	chr1:246797617-246800231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:246798854-246799222	K562	blood:	n/a	n/a
2	NR2F2	chr1:246798842-246799164	K562	blood:	n/a	n/a
3	POLR2A	chr1:246797999-246798388	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:246799129-246799920	K562	blood:	n/a	n/a
5	POLR2A	chr1:246798139-246798158	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:246798199-246798225	K562	blood:	n/a	n/a
7	POLR2A	chr1:246799432-246799555	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:246798030-246798177	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:246799998-246800196	K562	blood:	n/a	n/a
10	POLR2A	chr1:246798063-246798101	K562	blood:	n/a	n/a
11	SPI1	chr1:246798114-246798239	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246798258-246798308	Caco-2	colon:	n/a
2	chr1:246799582-246799632	LNCaP	prostate:	n/a
3	chr1:246799336-246799386	AG10803	skin:	n/a
4	chr1:246799336-246799386	BJ	skin:	n/a
5	chr1:246799582-246799632	HUVEC	blood vessel:	n/a
6	chr1:246799336-246799386	AoSMC	blood vessel:	n/a
7	chr1:246799336-246799386	A549	lung:	n/a
8	chr1:246799336-246799386	T-47D	breast:	n/a
9	chr1:246798258-246798308	SAEC	small airway:	n/a
10	chr1:246799582-246799632	MCF-7	breast:	n/a
11	chr1:246799582-246799632	AG09319	gingival:	n/a
12	chr1:246799582-246799632	Jurkat	blood:	n/a
13	chr1:246799336-246799386	HCF	heart:	n/a
14	chr1:246799336-246799386	SK-N-MC	brain:	n/a
15	chr1:246798258-246798308	Hepatocyte	liver:	n/a
16	chr1:246798258-246798308	GM12891	blood:	n/a
17	chr1:246798258-246798308	SK-N-SH	brain:	n/a
18	chr1:246799336-246799386	HUVEC	blood vessel:	n/a
19	chr1:246798258-246798308	HL-60	blood:	n/a
20	chr1:246798258-246798308	BE2_C	brain:	n/a
21	chr1:246799336-246799386	MCF10A-Er-Src	breast:	n/a
22	chr1:246798258-246798308	Jurkat	blood:	n/a
23	chr1:246799336-246799386	HEEpiC	esophagus:	n/a
24	chr1:246799582-246799632	PANC-1	pancreas:	n/a
25	chr1:246799582-246799632	GM06990	blood:	n/a
26	chr1:246799582-246799632	Caco-2	colon:	n/a
27	chr1:246799582-246799632	PrEC	prostate:	n/a
28	chr1:246798258-246798308	GM19239	blood:	n/a
29	chr1:246798258-246798308	HCF	heart:	n/a
30	chr1:246799336-246799386	U87	brain:	n/a
31	chr1:246799582-246799632	SKMC	muscle:	n/a
32	chr1:246799582-246799632	U87	brain:	n/a
33	chr1:246798258-246798308	RPTEC	kidney:	n/a
34	chr1:246799336-246799386	ovcar-3	ovarian:	n/a
35	chr1:246799336-246799386	K562	blood:	n/a
36	chr1:246798258-246798308	HepG2	liver:	n/a
37	chr1:246799336-246799386	IMR90	lung:	fetal
38	chr1:246799582-246799632	A549	lung:	n/a
39	chr1:246799336-246799386	Caco-2	colon:	n/a
40	chr1:246799336-246799386	SK-N-SH_RA	brain:	n/a
41	chr1:246799336-246799386	PrEC	prostate:	n/a
42	chr1:246798258-246798308	HMEC	breast:	n/a
43	chr1:246798258-246798308	A549	lung:	n/a
44	chr1:246799582-246799632	H1-hESC	embryonic stem cell:	embryo
45	chr1:246799582-246799632	HNPCEpiC	eye:	n/a
46	chr1:246799582-246799632	NH-A	brain:	n/a
47	chr1:246799336-246799386	NB4	blood:	n/a
48	chr1:246799582-246799632	NT2-D1	testis:	n/a
49	chr1:246798258-246798308	HUVEC	blood vessel:	n/a
50	chr1:246799336-246799386	CMK	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000228955	TF binding region
ENSG00000228955	CpG island

Extended variants
information (count: 183 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530790823	chr1:246797624-246797625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544231315	chr1:246797625-246797626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375195011	chr1:246797632-246797633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373128671	chr1:246797645-246797646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530050993	chr1:246797663-246797664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201466062	chr1:246797683-246797684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112811678	chr1:246797686-246797687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546430147	chr1:246797693-246797694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35650980	chr1:246797710-246797711	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201963187	chr1:246797713-246797714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201669819	chr1:246797714-246797715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532075825	chr1:246797715-246797716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372864418	chr1:246797720-246797721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552323655	chr1:246797757-246797758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371542664	chr1:246797759-246797760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373604546	chr1:246797802-246797803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147921633	chr1:246797810-246797811	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367745311	chr1:246797811-246797812	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569002004	chr1:246797816-246797817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147112975	chr1:246797823-246797824	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371579273	chr1:246797828-246797829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141101872	chr1:246797866-246797867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376138645	chr1:246797886-246797887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548251611	chr1:246797890-246797891	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374987996	chr1:246797931-246797932	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369519211	chr1:246797933-246797934	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570149431	chr1:246797958-246797959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536958017	chr1:246797973-246797974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6680646	chr1:246797974-246797975	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548174105	chr1:246798003-246798004	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573403991	chr1:246798034-246798035	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538872702	chr1:246798039-246798040	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35037617	chr1:246798049-246798050	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575372090	chr1:246798053-246798054	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148817987	chr1:246798085-246798086	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs367644449	chr1:246798090-246798091	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs3006086	chr1:246798105-246798106	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574602732	chr1:246798113-246798114	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs185537796	chr1:246798129-246798130	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113128666	chr1:246798133-246798134	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs34716329	chr1:246798150-246798151	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143624793	chr1:246798165-246798166	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552436396	chr1:246798177-246798178	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111452143	chr1:246798212-246798213	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191957201	chr1:246798224-246798225	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184706863	chr1:246798237-246798238	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201316654	chr1:246798253-246798254	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs534255110	chr1:246798254-246798255	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574656071	chr1:246798257-246798258	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199775780	chr1:246798258-246798259	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246739000-246806200	Weak transcription	Aorta	Aorta
2	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:246773200-246799000	Weak transcription	Fetal Lung	lung
4	chr1:246774600-246800400	Weak transcription	Pancreas	Pancrea
5	chr1:246777000-246799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:246777000-246802000	Weak transcription	NHEK	skin
7	chr1:246780800-246798000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:246780800-246806400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:246780800-246813400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:246781000-246800000	Weak transcription	HMEC	breast
11	chr1:246781000-246803000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:246781200-246798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:246781400-246800400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:246782000-246800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:246782200-246810200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:246782400-246810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:246782800-246810600	Weak transcription	Fetal Brain Male	brain
18	chr1:246784200-246810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:246784400-246799800	Weak transcription	Spleen	Spleen
21	chr1:246785600-246800600	Weak transcription	Gastric	stomach
22	chr1:246785800-246798400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:246785800-246801600	Weak transcription	Psoas Muscle	Psoas
24	chr1:246786000-246804800	Weak transcription	Fetal Heart	heart
25	chr1:246788000-246798000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:246788000-246799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:246790800-246800400	Weak transcription	Right Ventricle	heart
29	chr1:246791000-246804800	Weak transcription	Small Intestine	intestine
30	chr1:246791000-246806200	Weak transcription	Brain Angular Gyrus	brain
31	chr1:246791200-246810400	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:246791600-246798000	Weak transcription	Fetal Stomach	stomach
33	chr1:246791600-246800400	Weak transcription	Left Ventricle	heart
34	chr1:246792200-246801600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:246792800-246802000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:246793400-246800000	Weak transcription	Ovary	ovary
37	chr1:246794800-246798200	Strong transcription	K562	blood
38	chr1:246795200-246797800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:246795200-246803000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:246795200-246803200	Strong transcription	Primary T cells from cord blood	blood
41	chr1:246795200-246803400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:246795200-246803400	Strong transcription	Liver	Liver
43	chr1:246795400-246797800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:246795400-246802000	Strong transcription	Dnd41	blood
45	chr1:246795400-246803200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:246795600-246798400	Strong transcription	Primary B cells from cord blood	blood
47	chr1:246795600-246798400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:246795600-246801800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:246795600-246802800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:246795600-246802800	Strong transcription	Fetal Thymus	thymus

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