Variant report

Variant	esv3362193
Chromosome Location	chr4:8240929-8241097
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	chr4:8240877-8241057	GM12891	blood:	n/a	chr4:8240914-8240927
2	CTCF	chr4:8240966-8241203	GM19239	blood:	n/a	n/a
3	CTCF	chr4:8240949-8241028	GM12892	blood:	n/a	n/a
4	MAX	chr4:8240901-8241415	NB4	blood:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
5	MXI1	chr4:8241087-8241358	HepG2	liver:	n/a	n/a
6	MYC	chr4:8240945-8241276	MCF-7	breast:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
7	MYC	chr4:8240950-8241079	HUVEC	blood vessel:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
8	MYC	chr4:8241061-8241091	MCF-7	breast:	n/a	n/a
9	MYC	chr4:8240966-8241142	GM12878	blood:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
10	MYC	chr4:8240957-8240985	MCF-7	breast:	n/a	n/a
11	MYC	chr4:8240990-8241400	MCF-7	breast:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
12	MYC	chr4:8241092-8241183	MCF-7	breast:	n/a	n/a
13	NR2C2	chr4:8240864-8241395	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:8239802-8241426	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:8240874-8241521	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:8240727-8241443	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:8240890-8241402	GM12891	blood:	n/a	n/a
18	POLR2A	chr4:8239437-8241565	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:8240624-8241223	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr4:8241035-8241504	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr4:8240788-8241560	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr4:8240965-8241385	MCF-7	breast:	n/a	n/a
23	POLR2A	chr4:8240992-8241201	A549	lung:	n/a	n/a
24	POLR2A	chr4:8240801-8241626	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:8240954-8240957	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:8240372-8241118	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:8241047-8241397	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:8240956-8240960	MCF-7	breast:	n/a	n/a
29	POLR2A	chr4:8240855-8241409	GM12891	blood:	n/a	n/a
30	POLR2A	chr4:8240860-8241416	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:8240293-8241314	K562	blood:	n/a	n/a
32	POLR2A	chr4:8240898-8241468	GM12891	blood:	n/a	n/a
33	POLR2A	chr4:8240964-8241267	MCF-7	breast:	n/a	n/a
34	POLR2A	chr4:8240840-8241361	GM12878	blood:	n/a	n/a
35	POU2F2	chr4:8240764-8241147	GM12891	blood:	n/a	chr4:8240943-8240950 chr4:8240942-8240951 chr4:8240941-8240953 chr4:8240941-8240951 chr4:8240940-8240953
36	POU2F2	chr4:8240677-8241367	GM12891	blood:	n/a	chr4:8240943-8240950 chr4:8240942-8240951 chr4:8240941-8240953 chr4:8240941-8240951 chr4:8240940-8240953
37	RELA	chr4:8240436-8241128	GM12891	blood:	n/a	chr4:8240669-8240678 chr4:8240669-8240678
38	SUZ12	chr4:8240937-8241403	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr4:8240765-8241421	HepG2	liver:	n/a	chr4:8240869-8240877
40	ZBTB33	chr4:8241031-8241368	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:
2	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
3	chr4:8178131..8179114-chr4:8239846..8240964,9	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111328846	chr4:8240929-8240930	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565972204	chr4:8240930-8240931	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530052028	chr4:8240936-8240937	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548187391	chr4:8240960-8240961	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140515536	chr4:8240976-8240977	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs57041483	chr4:8240977-8240978	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199706872	chr4:8240979-8240980	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376093855	chr4:8240985-8240986	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397688870	chr4:8240989-8240990	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368299292	chr4:8240990-8240991	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373525959	chr4:8240991-8240992	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569606296	chr4:8240995-8240996	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535003309	chr4:8241007-8241008	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536651275	chr4:8241011-8241012	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201673209	chr4:8241021-8241022	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114490819	chr4:8241025-8241026	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199909026	chr4:8241032-8241033	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200173464	chr4:8241044-8241045	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570500042	chr4:8241065-8241066	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376617254	chr4:8241072-8241073	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116690648	chr4:8241077-8241078	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553182690	chr4:8241078-8241079	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574768558	chr4:8241097-8241098	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Oligozoospermia	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:8230800-8242800	Weak transcription	NHLF	lung
5	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
7	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
8	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
13	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:8232800-8243800	Strong transcription	Lung	lung
17	chr4:8232800-8244200	Strong transcription	HMEC	breast
18	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:8233000-8243800	Strong transcription	Liver	Liver
20	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
22	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
23	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
24	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
27	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:8236400-8243600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:8236400-8243800	Weak transcription	Fetal Heart	heart
36	chr4:8236400-8243800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:8236600-8243600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:8236600-8243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:8236600-8243800	Weak transcription	Fetal Lung	lung
40	chr4:8236600-8244200	Weak transcription	Osteobl	bone
41	chr4:8236600-8244400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:8236800-8243800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:8237600-8244200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:8238400-8241400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:8238400-8241800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:8238600-8241400	Strong transcription	NHEK	skin
47	chr4:8238600-8243800	Weak transcription	HSMM	muscle
48	chr4:8238800-8241200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8238800-8241400	Genic enhancers	HepG2	liver
50	chr4:8238800-8243800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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