Variant report

Variant	esv3323661
Chromosome Location	chr12:123334599-123335797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
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	CTCF	chr12:123335460-123335610	HUVEC	blood vessel:	n/a	n/a
2	EGR1	chr12:123335630-123335824	K562	blood:	n/a	chr12:123335706-123335721
3	FOS	chr12:123335407-123335601	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr12:123335330-123335745	IMR90	lung:	n/a	n/a
5	MYC	chr12:123335607-123335612	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr12:123335399-123335487	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr12:123335590-123335597	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr12:123335542-123335577	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr12:123335514-123335538	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr12:123335557-123335652	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:123335459-123335631	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123335357-123335407	AG09309	skin:	n/a
2	chr12:123334709-123334759	HepG2	liver:	n/a
3	chr12:123335687-123335737	CMK	blood:	n/a
4	chr12:123335444-123335494	HRCEpiC	kidney:	n/a
5	chr12:123335687-123335737	HEEpiC	esophagus:	n/a
6	chr12:123335444-123335494	MCF-7	breast:	n/a
7	chr12:123335687-123335737	ovcar-3	ovarian:	n/a
8	chr12:123335687-123335737	HIPEpiC	eye:	n/a
9	chr12:123335687-123335737	NH-A	brain:	n/a
10	chr12:123335444-123335494	HRPEpiC	eye:	n/a
11	chr12:123335444-123335494	Hepatocyte	liver:	n/a
12	chr12:123335687-123335737	HepG2	liver:	n/a
13	chr12:123335444-123335494	CMK	blood:	n/a
14	chr12:123335357-123335407	NHBE	bronchial:	n/a
15	chr12:123335357-123335407	A549	lung:	n/a
16	chr12:123335444-123335494	SAEC	small airway:	n/a
17	chr12:123335444-123335494	NHBE	bronchial:	n/a
18	chr12:123334709-123334759	HCM	heart:	n/a
19	chr12:123335357-123335407	Jurkat	blood:	n/a
20	chr12:123335357-123335407	MCF-7	breast:	n/a
21	chr12:123334709-123334759	PrEC	prostate:	n/a
22	chr12:123334709-123334759	Hela-S3	cervix:	n/a
23	chr12:123335444-123335494	HIPEpiC	eye:	n/a
24	chr12:123335357-123335407	Hela-S3	cervix:	n/a
25	chr12:123335357-123335407	HL-60	blood:	n/a
26	chr12:123334709-123334759	HCF	heart:	n/a
27	chr12:123335444-123335494	HCM	heart:	n/a
28	chr12:123334709-123334759	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:123335444-123335494	AG09309	skin:	n/a
30	chr12:123334709-123334759	NT2-D1	testis:	n/a
31	chr12:123335687-123335737	HEK293	kidney:	embryo
32	chr12:123335357-123335407	NHDF-neo	bronchial:	n/a
33	chr12:123335357-123335407	GM12891	blood:	n/a
34	chr12:123335444-123335494	HMEC	breast:	n/a
35	chr12:123335357-123335407	K562	blood:	n/a
36	chr12:123334709-123334759	A549	lung:	n/a
37	chr12:123334709-123334759	K562	blood:	n/a
38	chr12:123335357-123335407	AG10803	skin:	n/a
39	chr12:123334709-123334759	HRCEpiC	kidney:	n/a
40	chr12:123335357-123335407	NB4	blood:	n/a
41	chr12:123335444-123335494	GM12891	blood:	n/a
42	chr12:123335444-123335494	HepG2	liver:	n/a
43	chr12:123334709-123334759	AG10803	skin:	n/a
44	chr12:123335687-123335737	GM12891	blood:	n/a
45	chr12:123335357-123335407	CMK	blood:	n/a
46	chr12:123334709-123334759	AG04449	skin:	fetal
47	chr12:123334709-123334759	GM12891	blood:	n/a
48	chr12:123335357-123335407	HUVEC	blood vessel:	n/a
49	chr12:123335687-123335737	K562	blood:	n/a
50	chr12:123334709-123334759	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
2	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:

No data

Variant related genes	Relation type
HIP1R	TF binding region
HIP1R	CpG island
ENSG00000130787	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375497752	chr12:123334603-123334604	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534393785	chr12:123334643-123334644	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552700131	chr12:123334660-123334661	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375845202	chr12:123334684-123334685	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147270360	chr12:123334710-123334711	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539232427	chr12:123334717-123334718	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557340185	chr12:123334718-123334719	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199779424	chr12:123334726-123334727	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200886571	chr12:123334744-123334745	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201536073	chr12:123334747-123334748	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148746514	chr12:123334748-123334749	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200503518	chr12:123334750-123334751	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543373503	chr12:123334767-123334768	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542727986	chr12:123334866-123334867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554977320	chr12:123334867-123334868	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573320572	chr12:123334880-123334881	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7489275	chr12:123334929-123334930	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540720375	chr12:123334932-123334933	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56342419	chr12:123334946-123334947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7487892	chr12:123334960-123334961	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56133920	chr12:123334967-123334968	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59315869	chr12:123334971-123334972	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs55723415	chr12:123334984-123334985	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55841420	chr12:123334992-123334993	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs58115474	chr12:123335001-123335002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371694011	chr12:123335008-123335009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532936569	chr12:123335015-123335016	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187894122	chr12:123335022-123335023	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs59259782	chr12:123335029-123335030	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192674205	chr12:123335069-123335070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184248909	chr12:123335084-123335085	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56071380	chr12:123335091-123335092	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55928583	chr12:123335108-123335109	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs59175617	chr12:123335125-123335126	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192841421	chr12:123335146-123335147	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184679323	chr12:123335170-123335171	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188650851	chr12:123335177-123335178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529246628	chr12:123335193-123335194	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113735873	chr12:123335225-123335226	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534677191	chr12:123335240-123335241	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372662263	chr12:123335241-123335242	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557741255	chr12:123335246-123335247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545211373	chr12:123335272-123335273	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563403484	chr12:123335279-123335280	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12369846	chr12:123335287-123335288	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs548895075	chr12:123335296-123335297	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377187647	chr12:123335301-123335302	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528118600	chr12:123335302-123335303	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370487177	chr12:123335303-123335304	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546340083	chr12:123335308-123335309	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
2	chr12:123322800-123339600	Weak transcription	Dnd41	blood
3	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:123323400-123335200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
11	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:123325200-123335400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:123326600-123335600	Weak transcription	NHLF	lung
14	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
15	chr12:123326600-123345000	Weak transcription	A549	lung
16	chr12:123326800-123335400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
20	chr12:123327400-123336400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:123327600-123335400	Weak transcription	HUVEC	blood vessel
23	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123328400-123336200	Weak transcription	Placenta	Placenta
27	chr12:123329200-123335600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:123329400-123341800	Weak transcription	HepG2	liver
31	chr12:123329600-123336600	Strong transcription	Fetal Stomach	stomach
32	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
33	chr12:123330000-123335400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:123330400-123335400	Weak transcription	Right Atrium	heart
36	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:123330800-123335400	Weak transcription	Fetal Brain Male	brain
39	chr12:123330800-123335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:123330800-123336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:123331000-123335400	Weak transcription	Stomach Mucosa	stomach
42	chr12:123331000-123335400	Weak transcription	HMEC	breast
43	chr12:123331000-123337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:123331200-123336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:123331400-123336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123331600-123335400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:123331600-123335400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:123331600-123335600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:123332200-123336400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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