Variant report

Variant	nsv1012534
Chromosome Location	chr1:169924759-169965106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:169955146-169955152	K562	blood:	n/a	n/a
2	CEBPB	chr1:169953500-169953638	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:169953584-169953585	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:169953474-169953649	K562	blood:	n/a	n/a
5	CTCF	chr1:169959221-169959279	GM13977	blood:	n/a	n/a
6	CTCF	chr1:169951340-169951490	HepG2	liver:	n/a	chr1:169951427-169951440
7	CTCF	chr1:169926841-169926902	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr1:169932721-169932758	GM19240	blood:	n/a	n/a
9	CTCF	chr1:169944840-169944990	AG09319	gingival:	n/a	n/a
10	CUX1	chr1:169943514-169943612	K562	blood:	n/a	n/a
11	CUX1	chr1:169958684-169958851	GM12878	blood:	n/a	n/a
12	CUX1	chr1:169943282-169943471	GM12878	blood:	n/a	n/a
13	EP300	chr1:169937349-169937727	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr1:169958639-169959100	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr1:169937046-169937893	SK-N-SH	brain:	n/a	n/a
16	EP300	chr1:169937342-169937642	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr1:169955476-169955581	K562	blood:	n/a	n/a
18	EP300	chr1:169958852-169959130	SK-N-SH_RA	brain:	n/a	chr1:169959115-169959124
19	FOS	chr1:169959136-169959311	MCF10A-Er-Src	breast:	n/a	chr1:169959191-169959199 chr1:169959190-169959200
20	GATA2	chr1:169928101-169928458	SH-SY5Y	brain:	n/a	chr1:169928371-169928381 chr1:169928243-169928255
21	GATA2	chr1:169937314-169937695	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr1:169928128-169928498	SH-SY5Y	brain:	n/a	chr1:169928371-169928381 chr1:169928243-169928255
23	GATA3	chr1:169955318-169955736	MCF-7	breast:	n/a	n/a
24	GATA3	chr1:169929536-169929591	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr1:169937235-169937683	SH-SY5Y	brain:	n/a	chr1:169937265-169937275
26	GATA3	chr1:169937216-169937729	SK-N-SH	brain:	n/a	chr1:169937265-169937275
27	GATA3	chr1:169964144-169964238	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr1:169955632-169955693	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr1:169936518-169936617	SH-SY5Y	brain:	n/a	n/a
30	IRF1	chr1:169957131-169957132	K562	blood:	n/a	n/a
31	JUN	chr1:169956469-169956692	K562	blood:	n/a	n/a
32	JUN	chr1:169936755-169936860	K562	blood:	n/a	n/a
33	MAFF	chr1:169954911-169955280	HepG2	liver:	n/a	chr1:169955094-169955112
34	MAFF	chr1:169954915-169955283	K562	blood:	n/a	chr1:169955094-169955112
35	MAFF	chr1:169956204-169956404	HepG2	liver:	n/a	n/a
36	MAFK	chr1:169954844-169955364	GM12878	blood:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
37	MAFK	chr1:169954923-169955222	H1-hESC	embryonic stem cell:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
38	MAFK	chr1:169954934-169955279	Hela-S3	cervix:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
39	MAFK	chr1:169954910-169955281	IMR90	lung:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
40	MAFK	chr1:169956197-169956473	HepG2	liver:	n/a	chr1:169956321-169956332 chr1:169956321-169956337 chr1:169956320-169956334 chr1:169956322-169956333 chr1:169956321-169956332 chr1:169956321-169956336
41	MAFK	chr1:169956182-169956451	HepG2	liver:	n/a	chr1:169956321-169956332 chr1:169956321-169956337 chr1:169956320-169956334 chr1:169956322-169956333 chr1:169956321-169956332 chr1:169956321-169956336
42	MAFK	chr1:169954918-169955282	K562	blood:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
43	MAFK	chr1:169954914-169955283	HepG2	liver:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
44	MAFK	chr1:169954916-169955270	HepG2	liver:	n/a	chr1:169955095-169955110 chr1:169955100-169955111 chr1:169955100-169955111 chr1:169955098-169955112 chr1:169955095-169955111
45	MAZ	chr1:169943064-169943211	GM12878	blood:	n/a	n/a
46	MYC	chr1:169951180-169951270	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:169925911-169926025	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:169934780-169934985	K562	blood:	n/a	n/a
49	POLR2A	chr1:169956957-169957009	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:169959037-169959257	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169861655..169864221-chr1:169940931..169943553,2	MCF-7	breast:
2	chr1:169953487..169956228-chr1:169957640..169960024,2	MCF-7	breast:
3	chr1:169927495..169930307-chr1:170507858..170509808,2	K562	blood:
4	chr1:169942236..169943172-chrX:26753938..26754794,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCYL3-1	chr1:169927085-169927387	NONHSAT007483

Variant related genes	Relation type
MRPS10P1	TF binding region
RN7SL269P	TF binding region
ENSG00000000457	chromatin interactions
ENSG00000235378	chromatin interactions
ENSG00000120370	chromatin interactions

Extended variants
information (count: 1424 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs621437	chr1:169924759-169924760	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561061110	chr1:169924826-169924827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs476485	chr1:169924828-169924829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs115460273	chr1:169924866-169924867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543649087	chr1:169924912-169924913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187411835	chr1:169924916-169924917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538390417	chr1:169925023-169925024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191897015	chr1:169925145-169925146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547321034	chr1:169925200-169925201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559628148	chr1:169925227-169925228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182881718	chr1:169925253-169925254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187886142	chr1:169925263-169925264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193056574	chr1:169925286-169925287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369383386	chr1:169925326-169925327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143768563	chr1:169925344-169925345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76445840	chr1:169925350-169925351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146851668	chr1:169925381-169925382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76323861	chr1:169925382-169925383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566027816	chr1:169925396-169925397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536529159	chr1:169925445-169925446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113614474	chr1:169925464-169925465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548724573	chr1:169925582-169925583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376241206	chr1:169925609-169925610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138566203	chr1:169925751-169925752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543575549	chr1:169925795-169925796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80353621	chr1:169925812-169925813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79323936	chr1:169925813-169925814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140681266	chr1:169925849-169925850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540709859	chr1:169926116-169926117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558918097	chr1:169926147-169926148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565539477	chr1:169926180-169926181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189034412	chr1:169926184-169926185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552859795	chr1:169926212-169926213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116342641	chr1:169926246-169926247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192926018	chr1:169926286-169926287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369988046	chr1:169926307-169926308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144272403	chr1:169926314-169926315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16862843	chr1:169926371-169926372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528585297	chr1:169926387-169926388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547045093	chr1:169926428-169926429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2806392	chr1:169926512-169926513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535815031	chr1:169926529-169926530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79558382	chr1:169926602-169926603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112858906	chr1:169926671-169926672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199925688	chr1:169926684-169926685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2491088	chr1:169926687-169926688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs113520124	chr1:169926695-169926696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558706468	chr1:169926697-169926698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201170533	chr1:169926760-169926761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370967410	chr1:169926821-169926822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	21080181	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
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
Breast cancer	21509527	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
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169904000-169929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169904000-169934800	Weak transcription	Fetal Heart	heart
4	chr1:169904000-169949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
6	chr1:169909200-169946000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:169910400-169946200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:169911200-169948800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:169911400-169946200	Weak transcription	Dnd41	blood
10	chr1:169911400-169948600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169911600-169927000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:169911600-169945800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:169911800-169946400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:169911800-169949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:169911800-169951200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
17	chr1:169912000-169946200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:169912000-169953600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:169912000-169966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:169912400-169950400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:169912800-169967200	Weak transcription	NHDF-Ad	bronchial
23	chr1:169913400-169953600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:169913800-169938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:169914000-169945800	Weak transcription	Adipose Nuclei	Adipose
27	chr1:169914000-169946200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:169914000-169968400	Weak transcription	Ovary	ovary
29	chr1:169914200-169945800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:169914600-169933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169914600-169961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:169914600-169968000	Weak transcription	Fetal Stomach	stomach
33	chr1:169914800-169946000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
35	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:169915200-169950800	Weak transcription	Fetal Lung	lung
38	chr1:169917200-169950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:169919000-169944800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:169919800-169946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:169920000-169928800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:169921200-169924800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:169921600-169968400	Weak transcription	Fetal Brain Male	brain
44	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:169922200-169968400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:169923000-169946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:169923200-169938800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:169923600-169932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:169923600-169933200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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