Variant report

Variant	esv275446
Chromosome Location	chr5:74339574-74345369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74330454..74335475-chr5:74336350..74340630,5	MCF-7	breast:
2	chr5:74345325..74346339-chr5:74561197..74562160,5	MCF-7	breast:
3	chr5:74230526..74231383-chr5:74345361..74346008,2	MCF-7	breast:
4	chr5:74343645..74345260-chr5:74345382..74347449,2	K562	blood:
5	chr5:74332922..74335648-chr5:74338677..74341293,2	MCF-7	breast:
6	chr5:74315578..74317119-chr5:74341476..74343130,2	MCF-7	breast:
7	chr5:74343721..74346711-chr5:74348510..74350046,2	MCF-7	breast:
8	chr5:74334981..74336782-chr5:74342190..74344248,2	MCF-7	breast:
9	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:
10	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
11	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
12	chr5:74331704..74333232-chr5:74343101..74344687,2	MCF-7	breast:
13	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD31-1	chr5:74343858-74343862	ENSG00000250889
2	lnc-GCNT4-2	chr5:74340718-74341142	NONHSAT102193
3	lnc-ANKRD31-1	chr5:74343722-74343862	NONHSAT102195
4	lnc-GCNT4-2	chr5:74339379-74339914	NONHSAT102193
5	lnc-ANKRD31-1	chr5:74343858-74343862	XLOC_004890

No data

Variant related genes	Relation type
ENSG00000250889	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546966267	chr5:74339592-74339593	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4487475	chr5:74339620-74339621	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145690983	chr5:74339621-74339622	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs78276036	chr5:74339659-74339660	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547875578	chr5:74339742-74339743	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs568202840	chr5:74339785-74339786	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs192413786	chr5:74339799-74339800	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs112620837	chr5:74339830-74339831	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555579137	chr5:74339839-74339840	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572356839	chr5:74339861-74339862	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
11	rs78301836	chr5:74339909-74339910	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
12	rs34025359	chr5:74339923-74339924	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs142723722	chr5:74339961-74339962	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs578038921	chr5:74340001-74340002	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543800506	chr5:74340008-74340009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150697220	chr5:74340016-74340017	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113747566	chr5:74340091-74340092	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183409871	chr5:74340173-74340174	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75094012	chr5:74340186-74340187	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560832760	chr5:74340203-74340204	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553856442	chr5:74340231-74340232	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528676633	chr5:74340257-74340258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138929827	chr5:74340295-74340296	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7714420	chr5:74340327-74340328	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs369579052	chr5:74340330-74340331	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs111843857	chr5:74340338-74340339	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539222683	chr5:74340339-74340340	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556454066	chr5:74340354-74340355	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113365318	chr5:74340364-74340365	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186544913	chr5:74340384-74340385	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192407531	chr5:74340416-74340417	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555254048	chr5:74340428-74340429	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184695190	chr5:74340502-74340503	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534818512	chr5:74340505-74340506	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189609153	chr5:74340544-74340545	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs578030476	chr5:74340545-74340546	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576234117	chr5:74340555-74340556	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537049997	chr5:74340559-74340560	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557354039	chr5:74340623-74340624	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574035496	chr5:74340632-74340633	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192991798	chr5:74340637-74340638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542253347	chr5:74340665-74340666	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78763504	chr5:74340713-74340714	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371924933	chr5:74340755-74340756	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs573054227	chr5:74340788-74340789	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs140318198	chr5:74340874-74340875	Strong transcription Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs377361880	chr5:74340901-74340902	Strong transcription Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs555329782	chr5:74340925-74340926	Strong transcription Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149425146	chr5:74340940-74340941	Strong transcription Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs75602410	chr5:74340950-74340951	Strong transcription Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74317600-74344200	Weak transcription	Ovary	ovary
3	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:74330600-74339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:74330600-74339600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:74330600-74341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:74331600-74339800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:74331600-74344000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:74332600-74340400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:74332600-74343200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:74332800-74339600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:74333200-74339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:74333200-74339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:74333200-74344000	Weak transcription	Osteobl	bone
28	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:74333400-74343800	Weak transcription	NH-A	brain
30	chr5:74333400-74344000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:74333400-74344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:74333600-74339600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:74334200-74340200	Strong transcription	Primary T cells from cord blood	blood
34	chr5:74334200-74344000	Weak transcription	Stomach Mucosa	stomach
35	chr5:74334600-74339800	Weak transcription	Aorta	Aorta
36	chr5:74334800-74339800	Weak transcription	Pancreas	Pancrea
37	chr5:74335000-74340400	Strong transcription	Fetal Thymus	thymus
38	chr5:74335200-74339800	Weak transcription	Fetal Intestine Small	intestine
39	chr5:74335400-74340200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:74335600-74341400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:74335800-74340400	Strong transcription	Thymus	Thymus
42	chr5:74336400-74340000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:74336600-74345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:74337000-74342200	Strong transcription	Fetal Intestine Large	intestine
45	chr5:74337000-74343800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:74337200-74339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:74337200-74340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:74337200-74344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:74337200-74344200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:74337400-74339800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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