Variant report

Variant	esv33567
Chromosome Location	chr1:165648909-165650447
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	CTCF	chr1:165648571-165649006	HCT-116	colon:	n/a	n/a
2	POLR2A	chr1:165649061-165649160	K562	blood:	n/a	n/a
3	RAD21	chr1:165648434-165648949	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr1:165650130-165650286	K562	blood:	n/a	n/a
5	USF2	chr1:165649566-165649717	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165600033..165602839-chr1:165649825..165652028,2	K562	blood:
2	chr1:165646837..165649486-chr1:165653488..165655191,2	K562	blood:
3	chr1:165600483..165602839-chr1:165648702..165651325,2	K562	blood:

Variant related genes	Relation type
ALDH9A1	TF binding region
ENSG00000143198	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553421691	chr1:165648925-165648926	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184780471	chr1:165648945-165648946	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs57117372	chr1:165648959-165648960	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189163399	chr1:165648989-165648990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116369151	chr1:165649002-165649003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544559828	chr1:165649024-165649025	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186914524	chr1:165649081-165649082	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574709842	chr1:165649112-165649113	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142669245	chr1:165649145-165649146	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75094580	chr1:165649251-165649252	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113399351	chr1:165649306-165649307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17417191	chr1:165649307-165649308	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs59022991	chr1:165649315-165649316	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397695281	chr1:165649316-165649317	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546064724	chr1:165649386-165649387	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562522299	chr1:165649415-165649416	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531666187	chr1:165649429-165649430	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139558109	chr1:165649468-165649469	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548149763	chr1:165649471-165649472	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569970608	chr1:165649500-165649501	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11587760	chr1:165649531-165649532	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs547100161	chr1:165649537-165649538	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371762602	chr1:165649543-165649544	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150509508	chr1:165649573-165649574	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539144188	chr1:165649585-165649586	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368703997	chr1:165649588-165649589	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555541071	chr1:165649592-165649593	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139485499	chr1:165649599-165649600	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554939096	chr1:165649616-165649617	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55747724	chr1:165649632-165649633	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372306386	chr1:165649658-165649659	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540669550	chr1:165649662-165649663	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554203371	chr1:165649669-165649670	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200586555	chr1:165649676-165649677	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149264874	chr1:165649692-165649693	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199563024	chr1:165649711-165649712	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377272939	chr1:165649714-165649715	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs16849374	chr1:165649715-165649716	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201526858	chr1:165649717-165649718	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12139219	chr1:165649719-165649720	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373284118	chr1:165649763-165649764	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147829872	chr1:165649771-165649772	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371323880	chr1:165649772-165649773	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs202016807	chr1:165649784-165649785	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561795333	chr1:165649814-165649815	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200799083	chr1:165649816-165649817	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144479289	chr1:165649836-165649837	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs57850528	chr1:165649841-165649842	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1065756	chr1:165649851-165649852	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377384593	chr1:165649854-165649855	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 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
Thoracic aortic aneurysm	21092924	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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165618200-165652400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:165619600-165653200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:165623400-165653000	Weak transcription	Stomach Mucosa	stomach
5	chr1:165629000-165653600	Strong transcription	Dnd41	blood
6	chr1:165629400-165652800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:165629400-165654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:165629400-165656000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:165629600-165654800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:165629800-165654800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:165630000-165654400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:165632400-165649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:165633600-165651200	Weak transcription	Pancreas	Pancrea
14	chr1:165633600-165651400	Weak transcription	Gastric	stomach
15	chr1:165633800-165651000	Weak transcription	Small Intestine	intestine
16	chr1:165634400-165651800	Weak transcription	Fetal Heart	heart
17	chr1:165636000-165652400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:165637800-165649200	Weak transcription	Aorta	Aorta
19	chr1:165637800-165651200	Weak transcription	NHEK	skin
20	chr1:165637800-165653400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:165638000-165666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:165638600-165649000	Weak transcription	Psoas Muscle	Psoas
23	chr1:165638600-165665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:165639200-165659800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:165640000-165652800	Strong transcription	Fetal Intestine Large	intestine
26	chr1:165640800-165649200	Weak transcription	Esophagus	oesophagus
27	chr1:165641800-165652200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:165642000-165651200	Weak transcription	Fetal Kidney	kidney
29	chr1:165643000-165652400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:165643000-165652600	Strong transcription	Fetal Thymus	thymus
31	chr1:165643400-165654800	Weak transcription	Right Atrium	heart
32	chr1:165644200-165652200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:165644200-165652400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:165644200-165652600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:165644400-165649400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:165644400-165652400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:165644400-165653400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:165644600-165652600	Strong transcription	Fetal Lung	lung
39	chr1:165644600-165653400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:165644800-165653000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:165644800-165653400	Strong transcription	Placenta	Placenta
42	chr1:165644800-165658800	Strong transcription	HSMM	muscle
43	chr1:165645000-165650800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:165645000-165652400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:165645000-165655000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:165645000-165660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:165645200-165652600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:165645200-165652800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:165645200-165653200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:165645200-165655200	Strong transcription	Primary B cells from cord blood	blood

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