Variant report

Variant	esv3395419
Chromosome Location	chr1:174994329-174997427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:174996680-174996830	GM12869	blood:	n/a	n/a
2	CUX1	chr1:174996892-174996901	K562	blood:	n/a	n/a
3	ZNF274	chr1:174995364-174996426	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:174996543-174996593	HAEpiC	amniotic membrane:	n/a
2	chr1:174996543-174996593	HepG2	liver:	n/a
3	chr1:174996543-174996593	AG04450	lung:	fetal
4	chr1:174996543-174996593	K562	blood:	n/a
5	chr1:174996543-174996593	T-47D	breast:	n/a
6	chr1:174996543-174996593	GM19239	blood:	n/a
7	chr1:174996543-174996593	HCT-116	colon:	n/a
8	chr1:174996543-174996593	NT2-D1	testis:	n/a
9	chr1:174996543-174996593	SK-N-SH	brain:	n/a
10	chr1:174996543-174996593	Hela-S3	cervix:	n/a
11	chr1:174996543-174996593	IMR90	lung:	fetal
12	chr1:174996543-174996593	GM12892	blood:	n/a
13	chr1:174996543-174996593	RPTEC	kidney:	n/a
14	chr1:174996543-174996593	HRE	kidney:	n/a
15	chr1:174996543-174996593	NHBE	bronchial:	n/a
16	chr1:174996543-174996593	HCM	heart:	n/a
17	chr1:174996543-174996593	SK-N-SH_RA	brain:	n/a
18	chr1:174996543-174996593	HIPEpiC	eye:	n/a
19	chr1:174996543-174996593	AoSMC	blood vessel:	n/a
20	chr1:174996543-174996593	Hepatocyte	liver:	n/a
21	chr1:174996543-174996593	H1-hESC	embryonic stem cell:	embryo
22	chr1:174996543-174996593	MCF10A-Er-Src	breast:	n/a
23	chr1:174996543-174996593	AG04449	skin:	fetal
24	chr1:174996543-174996593	SKMC	muscle:	n/a
25	chr1:174996543-174996593	HUVEC	blood vessel:	n/a
26	chr1:174996543-174996593	HRCEpiC	kidney:	n/a
27	chr1:174996543-174996593	HRPEpiC	eye:	n/a
28	chr1:174996543-174996593	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:174996543-174996593	MCF-7	breast:	n/a
30	chr1:174996543-174996593	SK-N-MC	brain:	n/a
31	chr1:174996543-174996593	CMK	blood:	n/a
32	chr1:174996543-174996593	AG10803	skin:	n/a
33	chr1:174996543-174996593	BE2_C	brain:	n/a
34	chr1:174996543-174996593	AG09309	skin:	n/a
35	chr1:174996543-174996593	A549	lung:	n/a
36	chr1:174996543-174996593	LNCaP	prostate:	n/a
37	chr1:174996543-174996593	HL-60	blood:	n/a
38	chr1:174996543-174996593	PFSK-1	brain:	n/a
39	chr1:174996543-174996593	NH-A	brain:	n/a
40	chr1:174996543-174996593	BJ	skin:	n/a
41	chr1:174996543-174996593	GM12891	blood:	n/a
42	chr1:174996543-174996593	HMEC	breast:	n/a
43	chr1:174996543-174996593	ECC-1	luminal epithelium:	n/a
44	chr1:174996543-174996593	SAEC	small airway:	n/a
45	chr1:174996543-174996593	HNPCEpiC	eye:	n/a
46	chr1:174996543-174996593	AG09319	gingival:	n/a
47	chr1:174996543-174996593	Jurkat	blood:	n/a
48	chr1:174996543-174996593	ProgFib	skin:	n/a
49	chr1:174996543-174996593	HCF	heart:	n/a
50	chr1:174996543-174996593	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:174994289..174996013-chr1:175298978..175301005,2	K562	blood:
2	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:
3	chr1:174965007..174966867-chr1:174993864..174995754,2	MCF-7	breast:
4	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
5	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:
6	chr1:174991178..174995675-chr1:174996166..175000159,7	K562	blood:
7	chr1:174996789..174998917-chr1:175115886..175117632,2	K562	blood:
8	chr1:174992317..174994032-chr1:174994070..174996061,2	K562	blood:
9	chr1:174995889..174998745-chr1:175066579..175068389,2	K562	blood:
10	chr1:174978883..174980648-chr1:174996369..174998618,2	K562	blood:
11	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:

No data

Variant related genes	Relation type
MRPS14	TF binding region
ENSG00000206659	TF binding region
MRPS14	CpG island
ENSG00000206659	CpG island
ENSG00000206659	chromatin interactions
ENSG00000252552	chromatin interactions
ENSG00000120333	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5778825	chr1:174994381-174994382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149505401	chr1:174994391-174994392	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536233861	chr1:174994403-174994404	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12747912	chr1:174994408-174994409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187682657	chr1:174994418-174994419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143144684	chr1:174994419-174994420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551934344	chr1:174994427-174994428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559307201	chr1:174994437-174994438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs16847728	chr1:174994460-174994461	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374488223	chr1:174994468-174994469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558289524	chr1:174994523-174994524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148265060	chr1:174994565-174994566	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537518183	chr1:174994611-174994612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs367699831	chr1:174994624-174994625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575181735	chr1:174994643-174994644	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371654206	chr1:174994661-174994662	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544073933	chr1:174994701-174994702	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192173980	chr1:174994724-174994725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs16847730	chr1:174994790-174994791	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs574131343	chr1:174994793-174994794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553045832	chr1:174994802-174994803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573199381	chr1:174994872-174994873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536119198	chr1:174994909-174994910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556114751	chr1:174994938-174994939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184013086	chr1:174994954-174994955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34703066	chr1:174994969-174994970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189922369	chr1:174995033-174995034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4481804	chr1:174995059-174995060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35625455	chr1:174995064-174995065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576819316	chr1:174995067-174995068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545895952	chr1:174995133-174995134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141362992	chr1:174995137-174995138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528097995	chr1:174995165-174995166	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548060088	chr1:174995210-174995211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553647237	chr1:174995301-174995302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530609003	chr1:174995333-174995334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573638453	chr1:174995337-174995338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146290309	chr1:174995353-174995354	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184611111	chr1:174995425-174995426	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs111719651	chr1:174995429-174995430	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs139518404	chr1:174995430-174995431	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs539507341	chr1:174995475-174995476	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs201273739	chr1:174995553-174995554	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs570675927	chr1:174995562-174995563	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539616362	chr1:174995594-174995595	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs113113289	chr1:174995617-174995618	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs10912871	chr1:174995659-174995660	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs566842314	chr1:174995670-174995671	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs59223594	chr1:174995781-174995782	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182027390	chr1:174995816-174995817	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	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
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-174995200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:174993200-174998200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:174993200-174998200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:174993200-174998200	Weak transcription	HMEC	breast
5	chr1:174993200-174998400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:174993200-174998400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:174993200-174998600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:174993200-174998600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:174993200-174998600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:174993200-174998600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:174993200-174998800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:174993200-174998800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
15	chr1:174993400-174998200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:174993400-174998200	Weak transcription	Pancreas	Pancrea
17	chr1:174993400-174998200	Weak transcription	HepG2	liver
18	chr1:174993400-174998400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:174993400-174998600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:174993400-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:174993400-174998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:174993400-174998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:174993400-174998600	Weak transcription	Fetal Thymus	thymus
24	chr1:174993400-174998600	Weak transcription	K562	blood
25	chr1:174993400-174998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:174993600-174998600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:174993600-174998600	Weak transcription	Dnd41	blood
28	chr1:174997000-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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