Variant report

Variant	esv3464936
Chromosome Location	chr4:26442630-26454272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26438899..26441461-chr4:26443781..26447435,3	K562	blood:
2	chr4:26439053..26441508-chr4:26443087..26445412,2	MCF-7	breast:
3	chr4:26443090..26444766-chr4:27004196..27006740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540784146	chr4:26442638-26442639	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191922423	chr4:26442658-26442659	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532816809	chr4:26442666-26442667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115412195	chr4:26442760-26442761	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562891325	chr4:26442778-26442779	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544340374	chr4:26442791-26442792	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546634893	chr4:26442876-26442877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184351960	chr4:26442894-26442895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144121634	chr4:26442911-26442912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7689471	chr4:26442913-26442914	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs13140860	chr4:26443005-26443006	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566702007	chr4:26443052-26443053	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78697624	chr4:26443067-26443068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75683194	chr4:26443147-26443148	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73109119	chr4:26443154-26443155	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73810920	chr4:26443211-26443212	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537809753	chr4:26443277-26443278	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571508476	chr4:26443320-26443321	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538833792	chr4:26443326-26443327	ZNF genes & repeats Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549604947	chr4:26443417-26443418	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555247248	chr4:26443457-26443458	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77159551	chr4:26443571-26443572	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140051631	chr4:26443581-26443582	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562794597	chr4:26443599-26443600	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189558822	chr4:26443600-26443601	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537077134	chr4:26443610-26443611	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541806191	chr4:26443612-26443613	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142362797	chr4:26443635-26443636	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557322449	chr4:26443702-26443703	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546520190	chr4:26443720-26443721	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566670032	chr4:26443733-26443734	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569155851	chr4:26443741-26443742	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552469326	chr4:26443803-26443804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569135646	chr4:26443843-26443844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs3113028	chr4:26443859-26443860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554581540	chr4:26443868-26443869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192994532	chr4:26443871-26443872	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184294896	chr4:26443873-26443874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553545410	chr4:26443920-26443921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577370882	chr4:26443942-26443943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6854444	chr4:26443979-26443980	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556474674	chr4:26444017-26444018	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576306926	chr4:26444067-26444068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541869353	chr4:26444103-26444104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150952916	chr4:26444126-26444127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189580673	chr4:26444129-26444130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs151239454	chr4:26444150-26444151	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113242535	chr4:26444171-26444172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541521263	chr4:26444217-26444218	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140464719	chr4:26444219-26444220	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26414600-26443000	Weak transcription	Fetal Brain Male	brain
2	chr4:26417200-26443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:26423200-26446000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
5	chr4:26429000-26442800	Weak transcription	Psoas Muscle	Psoas
6	chr4:26431800-26444400	Weak transcription	Gastric	stomach
7	chr4:26431800-26445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:26432400-26443400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:26432600-26442800	Weak transcription	Esophagus	oesophagus
10	chr4:26432600-26442800	Weak transcription	Right Ventricle	heart
11	chr4:26432600-26444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:26432600-26445600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:26433600-26444200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:26433800-26444200	Weak transcription	HepG2	liver
15	chr4:26434400-26443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:26434600-26442800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:26434800-26442800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:26435000-26442800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:26436200-26446000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:26436400-26445800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:26438400-26443000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:26439200-26443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:26439600-26444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:26439800-26445400	Weak transcription	Fetal Thymus	thymus
26	chr4:26440200-26443400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:26440200-26444200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:26440200-26444400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:26440200-26444600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:26440200-26445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:26440400-26443200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:26440400-26443400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:26440400-26444800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:26440600-26443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:26440600-26443600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:26440600-26445800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:26440800-26443200	Weak transcription	Spleen	Spleen
38	chr4:26440800-26443600	Weak transcription	Fetal Intestine Small	intestine
39	chr4:26440800-26444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:26440800-26454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:26441200-26442800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:26441200-26443400	Weak transcription	Brain Germinal Matrix	brain
43	chr4:26441200-26445000	Weak transcription	Fetal Brain Female	brain
44	chr4:26441400-26442800	Weak transcription	Fetal Stomach	stomach
45	chr4:26441400-26444400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:26441600-26444400	Weak transcription	Fetal Muscle Leg	muscle
47	chr4:26441800-26443000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:26441800-26444000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:26442200-26443600	Enhancers	Fetal Lung	lung
50	chr4:26442200-26443800	Enhancers	Colon Smooth Muscle	Colon

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