Variant report

Variant	esv3427255
Chromosome Location	chr3:17744798-17748796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:17747666-17747713	GM20000	blood:	n/a	n/a
2	CTCF	chr3:17747636-17747733	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr3:17747568-17747621	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr3:17747601-17747621	GM10248	blood:	n/a	n/a
5	GATA3	chr3:17745077-17745192	SH-SY5Y	brain:	n/a	n/a
6	HEY1	chr3:17747525-17747755	K562	blood:	n/a	n/a
7	HEY1	chr3:17747573-17747699	HepG2	liver:	n/a	n/a
8	HEY1	chr3:17747506-17747770	HepG2	liver:	n/a	n/a
9	HEY1	chr3:17747514-17747754	K562	blood:	n/a	n/a
10	JUND	chr3:17745092-17745378	HepG2	liver:	n/a	n/a
11	MAFK	chr3:17745169-17745331	HepG2	liver:	n/a	n/a
12	NFYB	chr3:17748751-17748909	Hela-S3	cervix:	n/a	n/a
13	NR2F2	chr3:17745420-17745848	K562	blood:	n/a	n/a
14	NR2F2	chr3:17745463-17745837	K562	blood:	n/a	n/a
15	POLR2A	chr3:17747443-17748000	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr3:17747517-17747746	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:17747431-17747789	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:17747470-17747804	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:17747405-17747806	GM12892	blood:	n/a	n/a
20	POLR2A	chr3:17747527-17747734	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:17747531-17747728	A549	lung:	n/a	n/a
22	POLR2A	chr3:17747637-17747641	A549	lung:	n/a	n/a
23	POLR2A	chr3:17744726-17744883	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr3:17747490-17747761	GM12891	blood:	n/a	n/a
25	POLR2A	chr3:17747631-17747667	K562	blood:	n/a	n/a
26	POLR2A	chr3:17747509-17747725	GM12891	blood:	n/a	n/a
27	POLR2A	chr3:17747495-17747757	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:17747623-17747648	Gliobla	brain:	n/a	n/a
29	POLR2A	chr3:17747469-17747784	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr3:17747509-17747752	A549	lung:	n/a	n/a
31	POLR2A	chr3:17747552-17747716	A549	lung:	n/a	n/a
32	POLR2A	chr3:17747488-17747751	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:17747500-17747763	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:17747486-17747779	GM12891	blood:	n/a	n/a
35	POLR2A	chr3:17747611-17747713	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:17747540-17747722	A549	lung:	n/a	n/a
37	POLR2A	chr3:17747496-17747756	GM12892	blood:	n/a	n/a
38	POLR2A	chr3:17747497-17747769	GM12892	blood:	n/a	n/a
39	POLR2A	chr3:17747530-17747740	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:17747489-17747810	GM12891	blood:	n/a	n/a
41	POLR2A	chr3:17744959-17745009	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr3:17747603-17747801	HepG2	liver:	n/a	n/a
43	POLR2A	chr3:17747453-17747926	GM12892	blood:	n/a	n/a
44	POLR2A	chr3:17747521-17747741	Hela-S3	cervix:	n/a	n/a
45	POU2F2	chr3:17747484-17747782	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr3:17747529-17747690	HepG2	liver:	n/a	n/a
47	STAT3	chr3:17747822-17748020	MCF10A-Er-Src	breast:	n/a	chr3:17747867-17747875
48	TAF1	chr3:17747513-17747745	GM12892	blood:	n/a	n/a
49	TAF1	chr3:17747562-17747755	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr3:17747494-17747768	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:17743159..17745302-chr3:17783350..17785711,2	K562	blood:
2	chr3:17748021..17751254-chr3:17782290..17784175,4	MCF-7	breast:
3	chr3:17748682..17751400-chr3:17752667..17754505,2	K562	blood:
4	chr3:17748459..17751783-chr3:17756414..17759059,3	K562	blood:

No data

Variant related genes	Relation type
TBC1D5	TF binding region
ENSG00000233133	TF binding region
ENSG00000131374	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563425824	chr3:17744826-17744827	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142310481	chr3:17744899-17744900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147864322	chr3:17744922-17744923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141555867	chr3:17744958-17744959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201166860	chr3:17744994-17744995	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548457473	chr3:17745009-17745010	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567755596	chr3:17745057-17745058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533526743	chr3:17745082-17745083	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186794265	chr3:17745088-17745089	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191202406	chr3:17745100-17745101	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570175852	chr3:17745165-17745166	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183325432	chr3:17745175-17745176	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532597630	chr3:17745180-17745181	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368273692	chr3:17745231-17745232	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558837004	chr3:17745240-17745241	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575790256	chr3:17745298-17745299	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538196729	chr3:17745361-17745362	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376633114	chr3:17745394-17745395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36000123	chr3:17745396-17745397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11928726	chr3:17745397-17745398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555285785	chr3:17745398-17745399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373576726	chr3:17745405-17745406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13073256	chr3:17745406-17745407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533318704	chr3:17745407-17745408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111285352	chr3:17745408-17745409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540598534	chr3:17745409-17745410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58614671	chr3:17745419-17745420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560578377	chr3:17745420-17745421	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs192930744	chr3:17745437-17745438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577365715	chr3:17745482-17745483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546273405	chr3:17745483-17745484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369954147	chr3:17745585-17745586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562579919	chr3:17745600-17745601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552736292	chr3:17745610-17745611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs531514771	chr3:17745645-17745646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559836665	chr3:17745703-17745704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548213801	chr3:17745762-17745763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528793569	chr3:17745853-17745854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113987859	chr3:17745857-17745858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546874057	chr3:17745902-17745903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527308467	chr3:17745943-17745944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200845187	chr3:17746047-17746048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546950017	chr3:17746058-17746059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570216922	chr3:17746059-17746060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9826251	chr3:17746132-17746133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199896022	chr3:17746326-17746327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539205854	chr3:17746513-17746514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113123728	chr3:17746534-17746535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549840313	chr3:17746601-17746602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548555831	chr3:17746603-17746604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:17720000-17747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:17731600-17755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:17732200-17749400	Weak transcription	NHEK	skin
5	chr3:17732600-17755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:17733200-17755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:17733400-17747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:17734800-17753200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:17735200-17747600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:17735200-17755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:17735200-17755800	Weak transcription	Lung	lung
12	chr3:17735400-17750800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:17735400-17754200	Weak transcription	Primary B cells from cord blood	blood
14	chr3:17735400-17755400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:17735400-17755600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:17735400-17755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:17736000-17745000	Weak transcription	HepG2	liver
18	chr3:17736000-17747600	Weak transcription	Dnd41	blood
19	chr3:17743200-17747200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:17744200-17745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:17744400-17755600	Weak transcription	Left Ventricle	heart
22	chr3:17745000-17745200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:17745000-17745200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:17745000-17745400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:17745000-17745400	Enhancers	HepG2	liver
26	chr3:17745200-17755800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:17745400-17755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:17746200-17755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:17746400-17747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:17746800-17755800	Weak transcription	Esophagus	oesophagus
31	chr3:17747000-17748000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:17747000-17756800	Weak transcription	Colonic Mucosa	Colon
33	chr3:17747200-17748000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr3:17747400-17748000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:17747400-17748000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:17747400-17755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:17747600-17747800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr3:17747600-17747800	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr3:17747600-17748000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:17747600-17748200	ZNF genes & repeats	Dnd41	blood
41	chr3:17747800-17748000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:17747800-17755200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:17748000-17748200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr3:17748000-17749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:17748000-17755200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:17748000-17755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:17748000-17755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:17748000-17755800	Weak transcription	Fetal Intestine Small	intestine
49	chr3:17748000-17756000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:17748200-17755200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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