Variant report

Variant	esv10394
Chromosome Location	chr1:75198172-75198656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:413)
CpG islands
(count:244)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:75198620-75199022	K562	blood:	n/a	n/a
2	ARID3A	chr1:75198537-75199118	HepG2	liver:	n/a	n/a
3	ATF2	chr1:75198564-75199701	GM12878	blood:	n/a	n/a
4	ATF2	chr1:75198449-75199780	GM12878	blood:	n/a	n/a
5	ATF2	chr1:75197859-75198241	GM12878	blood:	n/a	n/a
6	ATF2	chr1:75197521-75198276	GM12878	blood:	n/a	n/a
7	BACH1	chr1:75198449-75198632	K562	blood:	n/a	n/a
8	BATF	chr1:75197646-75198232	GM12878	blood:	n/a	n/a
9	BCL11A	chr1:75197555-75198252	GM12878	blood:	n/a	n/a
10	BCL3	chr1:75197573-75198252	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:75198313-75199218	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:75198364-75199847	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:75198482-75199133	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:75198536-75199741	K562	blood:	n/a	n/a
15	BRCA1	chr1:75198431-75199038	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr1:75198571-75199220	K562	blood:	n/a	n/a
17	CCNT2	chr1:75198515-75199410	K562	blood:	n/a	n/a
18	CEBPB	chr1:75198629-75199853	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:75198625-75199003	K562	blood:	n/a	n/a
20	CEBPB	chr1:75197458-75199569	GM12878	blood:	n/a	n/a
21	CHD1	chr1:75198398-75200023	GM12878	blood:	n/a	n/a
22	CHD2	chr1:75198621-75199245	HepG2	liver:	n/a	n/a
23	CHD2	chr1:75198553-75199196	GM12878	blood:	n/a	n/a
24	CHD2	chr1:75197213-75198218	GM12878	blood:	n/a	n/a
25	CHD2	chr1:75198368-75199681	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr1:75198432-75199257	GM12878	blood:	n/a	n/a
27	CTCF	chr1:75198462-75200591	SK-N-SH	brain:	n/a	chr1:75198476-75198485
28	CTCF	chr1:75198495-75199954	GM12878	blood:	n/a	n/a
29	CTCF	chr1:75198600-75198750	GM12873	blood:	n/a	n/a
30	CTCF	chr1:75198600-75198750	HCM	heart:	n/a	n/a
31	CTCF	chr1:75198520-75198670	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr1:75198480-75198630	BJ	skin:	n/a	n/a
33	CTCF	chr1:75198640-75198790	A549	lung:	n/a	n/a
34	CTCF	chr1:75198320-75198470	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr1:75198300-75198450	HepG2	liver:	n/a	n/a
36	CTCF	chr1:75198360-75198510	BJ	skin:	n/a	chr1:75198476-75198485
37	CTCF	chr1:75198640-75198790	HPF	lung:	n/a	n/a
38	CTCF	chr1:75198480-75198630	AG04450	lung:	n/a	n/a
39	CTCF	chr1:75198640-75198790	GM12878	blood:	n/a	n/a
40	CTCF	chr1:75198380-75198530	AG04449	skin:	n/a	chr1:75198476-75198485
41	CTCF	chr1:75198400-75198550	NHDF-neo	bronchial:	n/a	chr1:75198476-75198485
42	CTCF	chr1:75198540-75198690	HAc	cerebellar:	n/a	n/a
43	CTCF	chr1:75198580-75198730	HFF	foreskin:	n/a	n/a
44	CTCF	chr1:75198627-75199967	A549	lung:	n/a	n/a
45	CTCF	chr1:75198480-75198630	SK-N-SH_RA	brain:	n/a	n/a
46	CUX1	chr1:75198545-75199767	GM12878	blood:	n/a	n/a
47	CUX1	chr1:75198508-75199670	K562	blood:	n/a	n/a
48	CUX1	chr1:75196910-75198287	GM12878	blood:	n/a	n/a
49	EBF1	chr1:75196948-75199692	GM12878	blood:	n/a	chr1:75198868-75198877
50	EBF1	chr1:75197673-75198259	GM12878	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	chr1:75198599-75198649	A549	lung:	n/a
2	chr1:75198582-75198632	PANC-1	pancreas:	n/a
3	chr1:75198211-75198261	PFSK-1	brain:	n/a
4	chr1:75198582-75198632	HUVEC	blood vessel:	n/a
5	chr1:75198582-75198632	HRPEpiC	eye:	n/a
6	chr1:75198211-75198261	SKMC	muscle:	n/a
7	chr1:75198403-75198453	HUVEC	blood vessel:	n/a
8	chr1:75198211-75198261	NT2-D1	testis:	n/a
9	chr1:75198211-75198261	MCF-7	breast:	n/a
10	chr1:75198599-75198649	GM12891	blood:	n/a
11	chr1:75198599-75198649	GM12878	blood:	n/a
12	chr1:75198599-75198649	HEK293	kidney:	embryo
13	chr1:75198211-75198261	SK-N-MC	brain:	n/a
14	chr1:75198599-75198649	ECC-1	luminal epithelium:	n/a
15	chr1:75198403-75198453	T-47D	breast:	n/a
16	chr1:75198582-75198632	ECC-1	luminal epithelium:	n/a
17	chr1:75198582-75198632	PrEC	prostate:	n/a
18	chr1:75198403-75198453	AG09319	gingival:	n/a
19	chr1:75198403-75198453	HRE	kidney:	n/a
20	chr1:75198211-75198261	AG04450	lung:	fetal
21	chr1:75198582-75198632	HCF	heart:	n/a
22	chr1:75198582-75198632	SK-N-SH	brain:	n/a
23	chr1:75198582-75198632	AG04449	skin:	fetal
24	chr1:75198211-75198261	U87	brain:	n/a
25	chr1:75198582-75198632	GM12891	blood:	n/a
26	chr1:75198403-75198453	PFSK-1	brain:	n/a
27	chr1:75198211-75198261	HRCEpiC	kidney:	n/a
28	chr1:75198599-75198649	NB4	blood:	n/a
29	chr1:75198403-75198453	SKMC	muscle:	n/a
30	chr1:75198211-75198261	HEK293	kidney:	embryo
31	chr1:75198403-75198453	AG10803	skin:	n/a
32	chr1:75198582-75198632	LNCaP	prostate:	n/a
33	chr1:75198403-75198453	NHDF-neo	bronchial:	n/a
34	chr1:75198403-75198453	HEK293	kidney:	embryo
35	chr1:75198403-75198453	GM12892	blood:	n/a
36	chr1:75198403-75198453	ProgFib	skin:	n/a
37	chr1:75198599-75198649	AG09309	skin:	n/a
38	chr1:75198211-75198261	PrEC	prostate:	n/a
39	chr1:75198599-75198649	HUVEC	blood vessel:	n/a
40	chr1:75198599-75198649	HepG2	liver:	n/a
41	chr1:75198403-75198453	CMK	blood:	n/a
42	chr1:75198403-75198453	Caco-2	colon:	n/a
43	chr1:75198582-75198632	PFSK-1	brain:	n/a
44	chr1:75198599-75198649	HCM	heart:	n/a
45	chr1:75198582-75198632	ProgFib	skin:	n/a
46	chr1:75198403-75198453	HEEpiC	esophagus:	n/a
47	chr1:75198599-75198649	SK-N-SH	brain:	n/a
48	chr1:75198599-75198649	SAEC	small airway:	n/a
49	chr1:75198599-75198649	AoSMC	blood vessel:	n/a
50	chr1:75198582-75198632	BE2_C	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:75197237..75200127-chr1:76254006..76255529,2	K562	blood:
2	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
3	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
4	chr1:75198609..75199364-chr16:46723157..46724066,2	Hela-S3	cervix:
5	chr1:75198241..75199185-chr6:89791480..89792312,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CRYZ	TF binding region
TYW3	TF binding region
CRYZ	CpG island
TYW3	CpG island
ENSG00000201487	chromatin interactions
ENSG00000091651	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000069329	chromatin interactions
ENSG00000162623	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374328592	chr1:75198176-75198177	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs189624944	chr1:75198210-75198211	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113407138	chr1:75198212-75198213	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs562110753	chr1:75198228-75198229	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs59853060	chr1:75198282-75198283	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs74685049	chr1:75198292-75198293	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs56898084	chr1:75198293-75198294	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs76637369	chr1:75198295-75198296	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529619352	chr1:75198326-75198327	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs3889133	chr1:75198345-75198346	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs560006182	chr1:75198417-75198418	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs527490761	chr1:75198542-75198543	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552036475	chr1:75198575-75198576	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs544062024	chr1:75198632-75198633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
2	chr1:75194600-75198200	Weak transcription	Small Intestine	intestine
3	chr1:75194800-75198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:75195600-75200400	Active TSS	A549	lung
5	chr1:75195800-75198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:75196400-75198200	Weak transcription	HSMMtube	muscle
7	chr1:75196400-75198400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
9	chr1:75196600-75198400	Active TSS	HepG2	liver
10	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
12	chr1:75197000-75198200	Enhancers	Fetal Lung	lung
13	chr1:75197000-75198200	Flanking Active TSS	HUVEC	blood vessel
14	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
16	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:75197200-75198200	Enhancers	Primary T cells from cord blood	blood
18	chr1:75197200-75198200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:75197200-75198400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:75197200-75198400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:75197200-75198400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:75197200-75199600	Active TSS	Pancreas	Pancrea
23	chr1:75197200-75199800	Active TSS	Colonic Mucosa	Colon
24	chr1:75197200-75200000	Active TSS	Right Atrium	heart
25	chr1:75197200-75200400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:75197400-75198200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:75197400-75198200	Flanking Active TSS	Dnd41	blood
28	chr1:75197400-75198400	Enhancers	Spleen	Spleen
29	chr1:75197400-75200000	Active TSS	Osteobl	bone
30	chr1:75197600-75198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:75197600-75198200	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:75197600-75198200	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr1:75197600-75199600	Active TSS	Left Ventricle	heart
34	chr1:75197600-75199600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:75197600-75199800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:75197600-75199800	Active TSS	Aorta	Aorta
37	chr1:75197600-75200000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:75197600-75200000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:75197600-75200000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:75197600-75200000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:75197600-75200200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:75197600-75200200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:75197600-75200200	Active TSS	Ovary	ovary
44	chr1:75197600-75200400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:75197800-75198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:75197800-75198400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:75197800-75198400	Weak transcription	Fetal Heart	heart
49	chr1:75197800-75198800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:75197800-75199600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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