Variant report

Variant	esv1793856
Chromosome Location	chr4:26284472-26294886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26281907..26283732-chr4:26289756..26291455,2	MCF-7	breast:
2	chr1:23670584..23671121-chr4:26289340..26290088,2	NB4	blood:
3	chr4:26290132..26292297-chr4:26397412..26399747,2	K562	blood:
4	chr4:26281068..26283332-chr4:26287358..26289561,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-6	chr4:26289823-26290071	NONHSAT095869

Variant related genes	Relation type
ENSG00000125944	chromatin interactions

Extended variants
information (count: 399 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4692114	chr4:26284472-26284473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573877429	chr4:26284493-26284494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28431262	chr4:26284514-26284515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs67501530	chr4:26284569-26284570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62409734	chr4:26284573-26284574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182701411	chr4:26284622-26284623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561743011	chr4:26284632-26284633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545340783	chr4:26284690-26284691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187567911	chr4:26284709-26284710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530389276	chr4:26284710-26284711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13132868	chr4:26284725-26284726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191173677	chr4:26284753-26284754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112874792	chr4:26284775-26284776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375622332	chr4:26284788-26284789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183796947	chr4:26284789-26284790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544695785	chr4:26284797-26284798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188950203	chr4:26284798-26284799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192574617	chr4:26284802-26284803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529089341	chr4:26284836-26284837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13133257	chr4:26284843-26284844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184371950	chr4:26284848-26284849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28628610	chr4:26284904-26284905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373657238	chr4:26284932-26284933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564414883	chr4:26284933-26284934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551319482	chr4:26284950-26284951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112471051	chr4:26284986-26284987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7658233	chr4:26285098-26285099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71618558	chr4:26285107-26285108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7658244	chr4:26285115-26285116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71637645	chr4:26285121-26285122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71637646	chr4:26285129-26285130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536780599	chr4:26285210-26285211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533395338	chr4:26285222-26285223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73114545	chr4:26285253-26285254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371025225	chr4:26285271-26285272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57393337	chr4:26285286-26285287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567562760	chr4:26285307-26285308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201144818	chr4:26285322-26285323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187520613	chr4:26285330-26285331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375681641	chr4:26285380-26285381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529411840	chr4:26285393-26285394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573442765	chr4:26285394-26285395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201290219	chr4:26285396-26285397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113396619	chr4:26285427-26285428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558937455	chr4:26285439-26285440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189108905	chr4:26285488-26285489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144609703	chr4:26285503-26285504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561364448	chr4:26285513-26285514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10027315	chr4:26285566-26285567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542802338	chr4:26285632-26285633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26266400-26289000	Weak transcription	Right Atrium	heart
2	chr4:26275600-26289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:26280400-26289400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:26282000-26290800	Weak transcription	Placenta	Placenta
5	chr4:26283400-26284600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:26284000-26285600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:26284000-26285600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:26284000-26290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:26284200-26289600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:26284200-26290000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:26284200-26290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:26284400-26285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:26284400-26289600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:26284400-26290000	Weak transcription	NHLF	lung
15	chr4:26284600-26289800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:26285400-26286400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:26285600-26285800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:26285800-26286000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:26286200-26286400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:26286400-26289000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:26286400-26290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:26288200-26289800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:26288400-26289400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:26288600-26289000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr4:26288800-26289000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:26289000-26289200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:26289000-26289200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr4:26289000-26289200	Enhancers	Primary B cells from cord blood	blood
29	chr4:26289000-26289200	Enhancers	Right Atrium	heart
30	chr4:26289000-26289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:26289200-26289400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr4:26289200-26289600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:26289400-26289600	Enhancers	GM12878-XiMat	blood
34	chr4:26289400-26289800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:26289400-26290000	Enhancers	NHDF-Ad	bronchial
36	chr4:26289400-26290200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:26289400-26290400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr4:26289400-26291200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr4:26289600-26290200	Enhancers	Adipose Nuclei	Adipose
40	chr4:26289600-26290400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:26289600-26290400	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:26289600-26290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:26289600-26290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:26289600-26290800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:26289600-26290800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:26289600-26291200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:26289600-26291200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr4:26289600-26292000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:26289600-26293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:26289800-26290000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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