Variant report

Variant	esv3416015
Chromosome Location	chr4:8035502-8037900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
2	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:
3	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
4	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
5	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
6	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:

Variant related genes	Relation type
ENSG00000273267	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187180046	chr4:8035611-8035612	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139603845	chr4:8035640-8035641	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191636901	chr4:8035706-8035707	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528519034	chr4:8035736-8035737	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539193191	chr4:8035743-8035744	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546983051	chr4:8035787-8035788	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568807241	chr4:8035802-8035803	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34790115	chr4:8035817-8035818	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs183093597	chr4:8035828-8035829	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569426809	chr4:8035833-8035834	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539597938	chr4:8035834-8035835	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558637655	chr4:8035850-8035851	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576493854	chr4:8035858-8035859	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187430497	chr4:8035878-8035879	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193130992	chr4:8035891-8035892	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574437675	chr4:8035892-8035893	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566175862	chr4:8035909-8035910	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115673940	chr4:8035927-8035928	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563395401	chr4:8035945-8035946	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541172781	chr4:8035955-8035956	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185628440	chr4:8035993-8035994	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545653265	chr4:8035998-8035999	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564588511	chr4:8036061-8036062	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144535634	chr4:8036079-8036080	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547046971	chr4:8036129-8036130	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555245550	chr4:8036166-8036167	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568464547	chr4:8036168-8036169	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573474469	chr4:8036198-8036199	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529602592	chr4:8036210-8036211	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537666521	chr4:8036220-8036221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111161310	chr4:8036242-8036243	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374125470	chr4:8036248-8036249	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551256209	chr4:8036307-8036308	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111203720	chr4:8036328-8036329	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569419480	chr4:8036399-8036400	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575673324	chr4:8036543-8036544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555462828	chr4:8036549-8036550	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540037488	chr4:8036562-8036563	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551543465	chr4:8036591-8036592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546031401	chr4:8036602-8036603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190082936	chr4:8036631-8036632	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189336788	chr4:8036633-8036634	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192710639	chr4:8036642-8036643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570239691	chr4:8036660-8036661	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114175053	chr4:8036664-8036665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183468675	chr4:8036667-8036668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573281544	chr4:8036695-8036696	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540879588	chr4:8036696-8036697	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7435286	chr4:8036729-8036730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574383497	chr4:8036768-8036769	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
4	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
5	chr4:8022000-8037600	Weak transcription	Lung	lung
6	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
7	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
8	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
9	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:8028800-8035600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:8029800-8046600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:8030400-8039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:8030800-8037600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:8031200-8052000	Weak transcription	Psoas Muscle	Psoas
17	chr4:8033000-8036800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:8033200-8035600	Weak transcription	Aorta	Aorta
19	chr4:8033400-8036800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:8033400-8037000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:8034600-8036000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:8034600-8039000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:8035000-8039400	Strong transcription	Pancreas	Pancrea
24	chr4:8035200-8036000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:8035400-8035600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:8035400-8035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:8035400-8036200	Enhancers	Brain Anterior Caudate	brain
28	chr4:8035400-8036200	Strong transcription	Esophagus	oesophagus
29	chr4:8035400-8038000	Genic enhancers	Spleen	Spleen
30	chr4:8035600-8035800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:8035600-8036000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:8035600-8036000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:8035600-8038000	Strong transcription	Aorta	Aorta
34	chr4:8035800-8036000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8035800-8036000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8035800-8036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:8036000-8036200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:8036000-8036200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:8036000-8036800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:8036000-8036800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:8036200-8037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8036200-8040800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:8036200-8045000	Weak transcription	Esophagus	oesophagus
44	chr4:8036600-8038000	Strong transcription	Right Ventricle	heart
45	chr4:8036800-8037000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:8036800-8037400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:8036800-8037400	Enhancers	GM12878-XiMat	blood
48	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr4:8036800-8037600	Enhancers	Dnd41	blood

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