Variant report

Variant	esv1803905
Chromosome Location	chr3:164047951-164062597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:164050520-164050670	Caco-2	colon:	n/a	n/a
2	CTCF	chr3:164050695-164050869	Medullo	brain:	n/a	n/a
3	CTCF	chr3:164050746-164050829	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:164050700-164050850	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr3:164050700-164050850	GM12864	blood:	n/a	n/a
6	CTCF	chr3:164050720-164050870	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr3:164050680-164050830	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr3:164050758-164050759	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:164050660-164050810	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr3:164054702-164054778	GM13976	blood:	n/a	n/a
11	CTCF	chr3:164050660-164050810	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr3:164050760-164050812	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:164050700-164050850	AG09319	gingival:	n/a	n/a
14	CTCF	chr3:164050700-164050850	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:164050680-164050830	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr3:164050640-164050790	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr3:164050700-164050850	HAc	cerebellar:	n/a	n/a
18	FOXA2	chr3:164060632-164061059	A549	lung:	n/a	n/a
19	FOXA2	chr3:164060744-164060951	A549	lung:	n/a	n/a
20	JUND	chr3:164050678-164051180	H1-hESC	embryonic stem cell:	n/a	n/a
21	NANOG	chr3:164050735-164050977	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFYA	chr3:164056301-164056306	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:164059787-164059841	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr3:164048962-164049067	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:164056924-164056955	K562	blood:	n/a	n/a
26	RAD21	chr3:164050668-164050952	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr3:164050539-164051006	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr3:164050646-164050800	SK-N-SH_RA	brain:	n/a	n/a
29	STAT3	chr3:164049729-164050005	MCF10A-Er-Src	breast:	n/a	n/a
30	TAL1	chr3:164060045-164060066	K562	blood:	n/a	n/a
31	TEAD4	chr3:164060130-164060351	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:164059255-164059305	PFSK-1	brain:	n/a
2	chr3:164056753-164056803	SK-N-SH_RA	brain:	n/a
3	chr3:164056753-164056803	HEEpiC	esophagus:	n/a
4	chr3:164059011-164059061	HUVEC	blood vessel:	n/a
5	chr3:164056463-164056513	HUVEC	blood vessel:	n/a
6	chr3:164059255-164059305	AoSMC	blood vessel:	n/a
7	chr3:164056463-164056513	AG04449	skin:	fetal
8	chr3:164056753-164056803	NHDF-neo	bronchial:	n/a
9	chr3:164056753-164056803	AG10803	skin:	n/a
10	chr3:164059124-164059174	SK-N-MC	brain:	n/a
11	chr3:164059124-164059174	HRE	kidney:	n/a
12	chr3:164056753-164056803	HIPEpiC	eye:	n/a
13	chr3:164056463-164056513	SKMC	muscle:	n/a
14	chr3:164056753-164056803	Hela-S3	cervix:	n/a
15	chr3:164056753-164056803	GM12891	blood:	n/a
16	chr3:164059255-164059305	CMK	blood:	n/a
17	chr3:164059255-164059305	NT2-D1	testis:	n/a
18	chr3:164056753-164056803	HCT-116	colon:	n/a
19	chr3:164059124-164059174	NT2-D1	testis:	n/a
20	chr3:164059011-164059061	A549	lung:	n/a
21	chr3:164056753-164056803	NB4	blood:	n/a
22	chr3:164059124-164059174	Jurkat	blood:	n/a
23	chr3:164050953-164051003	NH-A	brain:	n/a
24	chr3:164056463-164056513	Hepatocyte	liver:	n/a
25	chr3:164056463-164056513	T-47D	breast:	n/a
26	chr3:164059255-164059305	SK-N-MC	brain:	n/a
27	chr3:164056753-164056803	AG04449	skin:	fetal
28	chr3:164056753-164056803	NH-A	brain:	n/a
29	chr3:164059124-164059174	HCPEpiC	choroid plexus:	n/a
30	chr3:164056463-164056513	SK-N-SH	brain:	n/a
31	chr3:164050953-164051003	AoSMC	blood vessel:	n/a
32	chr3:164059255-164059305	HMEC	breast:	n/a
33	chr3:164056463-164056513	AG09309	skin:	n/a
34	chr3:164056463-164056513	HCM	heart:	n/a
35	chr3:164056753-164056803	NHBE	bronchial:	n/a
36	chr3:164059011-164059061	GM19239	blood:	n/a
37	chr3:164059255-164059305	HL-60	blood:	n/a
38	chr3:164056753-164056803	NT2-D1	testis:	n/a
39	chr3:164056463-164056513	Jurkat	blood:	n/a
40	chr3:164059255-164059305	Hepatocyte	liver:	n/a
41	chr3:164059124-164059174	H1-hESC	embryonic stem cell:	embryo
42	chr3:164050953-164051003	HIPEpiC	eye:	n/a
43	chr3:164050953-164051003	HPAEpiC	pulmonary alveolar:	n/a
44	chr3:164050953-164051003	MCF-7	breast:	n/a
45	chr3:164056753-164056803	ovcar-3	ovarian:	n/a
46	chr3:164056753-164056803	SKMC	muscle:	n/a
47	chr3:164056463-164056513	MCF-7	breast:	n/a
48	chr3:164050953-164051003	Hela-S3	cervix:	n/a
49	chr3:164056753-164056803	Jurkat	blood:	n/a
50	chr3:164056463-164056513	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:164050649..164051226-chr3:164523700..164524566,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR720	TF binding region
MIR720	CpG island

Extended variants
information (count: 663 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569070438	chr3:164047964-164047965	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537624067	chr3:164047972-164047973	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189338887	chr3:164047974-164047975	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73016872	chr3:164047994-164047995	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567310026	chr3:164048006-164048007	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs552900180	chr3:164048071-164048072	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs573151541	chr3:164048079-164048080	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs535983948	chr3:164048082-164048083	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs546841823	chr3:164048088-164048089	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs575821014	chr3:164048119-164048120	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs534835044	chr3:164048148-164048149	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs191370987	chr3:164048185-164048186	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs564779370	chr3:164048252-164048253	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs553062093	chr3:164048266-164048267	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs147585054	chr3:164048276-164048277	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs540924784	chr3:164048279-164048280	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs184277235	chr3:164048340-164048341	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs73157106	chr3:164048380-164048381	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34909322	chr3:164048381-164048382	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562416503	chr3:164048438-164048439	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs34716153	chr3:164048444-164048445	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs397821754	chr3:164048454-164048455	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs188764223	chr3:164048480-164048481	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs142112681	chr3:164048481-164048482	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs551118957	chr3:164048545-164048546	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs571208667	chr3:164048546-164048547	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs533878348	chr3:164048634-164048635	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs547279152	chr3:164048635-164048636	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs372188148	chr3:164048824-164048825	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs566892508	chr3:164048851-164048852	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs79722257	chr3:164048875-164048876	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs555850156	chr3:164048911-164048912	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs575608995	chr3:164048918-164048919	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs79436822	chr3:164049058-164049059	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556047344	chr3:164049202-164049203	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6548341	chr3:164049277-164049278	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181137749	chr3:164049299-164049300	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77471258	chr3:164049306-164049307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57413191	chr3:164049321-164049322	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572878942	chr3:164049353-164049354	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145871364	chr3:164049358-164049359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566625969	chr3:164049389-164049390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200807123	chr3:164049422-164049423	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186793406	chr3:164049423-164049424	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190049828	chr3:164049443-164049444	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564986288	chr3:164049475-164049476	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542222935	chr3:164049517-164049518	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535418263	chr3:164049533-164049534	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562610471	chr3:164049609-164049610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531257284	chr3:164049610-164049611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164039200-164050000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:164039400-164048800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:164044800-164049000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:164044800-164049400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:164044800-164049400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:164045000-164048800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:164045000-164048800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:164045000-164050200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:164045200-164049000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:164045200-164049600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:164046800-164048000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164047600-164049600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:164047600-164050400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:164048000-164049000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164048800-164050600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:164048800-164050800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:164048800-164051600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:164049000-164049800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:164049000-164051000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:164049000-164051600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:164049400-164049600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:164049400-164049800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:164049400-164051600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:164049600-164050200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:164049600-164050400	Enhancers	Dnd41	blood
26	chr3:164049600-164051600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:164049600-164051600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:164049600-164051600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:164049800-164050000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:164049800-164051400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:164050000-164051400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:164050000-164051600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:164050200-164050800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:164050200-164051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:164050200-164051200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:164050200-164051600	Enhancers	Fetal Stomach	stomach
37	chr3:164050200-164052200	Enhancers	Fetal Intestine Small	intestine
38	chr3:164050400-164050600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:164050400-164050800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:164050400-164051400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:164050400-164051400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:164050400-164051600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:164050400-164051600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:164050400-164051600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:164050400-164051600	Enhancers	Ovary	ovary
46	chr3:164050400-164051600	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:164050600-164051200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:164050600-164051200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:164050600-164051400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:164050800-164051000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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