Variant report

Variant	esv1846074
Chromosome Location	chr10:43744741-43761629
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:35)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43716710..43720339-chr10:43755141..43758566,3	K562	blood:
2	chr10:43623236..43626129-chr10:43750680..43753451,2	K562	blood:
3	chr10:43749564..43751225-chr10:43756675..43758831,2	K562	blood:
4	chr10:43624629..43626379-chr10:43749891..43752180,2	K562	blood:
5	chr10:43741068..43743342-chr10:43744213..43745801,2	K562	blood:
6	chr10:43746978..43749423-chr10:43756169..43758679,2	K562	blood:
7	chr10:43745055..43746859-chr10:43757087..43758973,2	MCF-7	breast:
8	chr10:43600712..43601532-chr10:43751532..43752231,2	K562	blood:
9	chr10:43759900..43762026-chr10:43901535..43903337,2	MCF-7	breast:
10	chr10:43745055..43746859-chr10:43757087..43758973,2	MCF-7	breast:
11	chr10:43704701..43705317-chr10:43751108..43751738,2	MCF-7	breast:
12	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:
13	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
14	chr10:43746978..43749423-chr10:43756169..43758679,2	K562	blood:
15	chr10:43750362..43752659-chr10:43753450..43755922,3	K562	blood:
16	chr10:43716570..43717454-chr10:43751032..43752428,7	MCF-7	breast:
17	chr10:43761240..43761910-chr10:43957026..43957545,2	MCF-7	breast:
18	chr10:43700022..43701253-chr10:43750988..43751917,9	MCF-7	breast:
19	chr10:43760886..43761922-chr10:43843561..43844509,10	MCF-7	breast:
20	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:
21	chr10:43746418..43748826-chr10:43749692..43752083,4	K562	blood:
22	chr10:43629065..43631893-chr10:43754557..43757372,3	MCF-7	breast:
23	chr10:43750917..43751578-chr10:43813067..43813837,2	K562	blood:
24	chr10:43750362..43752659-chr10:43753450..43755922,3	K562	blood:
25	chr10:43749536..43751095-chr10:43809193..43811814,2	K562	blood:
26	chr10:43753888..43756103-chr10:43898148..43900430,2	K562	blood:
27	chr10:43726760..43729695-chr10:43750265..43752104,2	MCF-7	breast:
28	chr10:43700322..43701097-chr10:43750638..43751735,4	MCF-7	breast:
29	chr10:43746969..43750119-chr10:43752543..43755778,3	K562	blood:
30	chr10:43749564..43751225-chr10:43756675..43758831,2	K562	blood:
31	chr10:43748329..43751092-chr10:43758387..43762104,3	MCF-7	breast:
32	chr10:43757038..43760449-chr10:43762640..43764974,3	K562	blood:
33	chr10:43746418..43748826-chr10:43749692..43752083,4	K562	blood:
34	chr10:43665667..43666593-chr10:43751227..43751730,2	K562	blood:
35	chr10:43746969..43750119-chr10:43752543..43755778,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSGALNACT2-2	chr10:43759311-43759487	l_304_chr10:43724730-43729936_testes
2	lnc-CSGALNACT2-2	chr10:43754457-43755996	NONHSAT012948
3	lnc-CSGALNACT2-2	chr10:43759816-43759920	NONHSAT012948
4	lnc-CSGALNACT2-2	chr10:43756176-43756431	NONHSAT012948
5	lnc-CSGALNACT2-2	chr10:43758646-43758735	l_304_chr10:43724730-43729936_testes
6	lnc-CSGALNACT2-2	chr10:43758646-43758735	NONHSAT012948
7	lnc-CSGALNACT2-2	chr10:43759311-43759445	NONHSAT012948

No data

Variant related genes	Relation type
ENSG00000169813	chromatin interactions
ENSG00000273008	chromatin interactions
ENSG00000169826	chromatin interactions

Extended variants
information (count: 751 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55679847	chr10:43744741-43744742	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547178503	chr10:43744769-43744770	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565383956	chr10:43744770-43744771	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568216003	chr10:43744811-43744812	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146754633	chr10:43744842-43744843	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569646180	chr10:43744849-43744850	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2460551	chr10:43744860-43744861	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12570997	chr10:43744871-43744872	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567575842	chr10:43744910-43744911	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534761694	chr10:43744911-43744912	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553122948	chr10:43744959-43744960	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180722810	chr10:43744974-43744975	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61845684	chr10:43744983-43744984	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs2460552	chr10:43744986-43744987	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116030524	chr10:43744987-43744988	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542623201	chr10:43745014-43745015	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs569777167	chr10:43745015-43745016	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528307854	chr10:43745016-43745017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs35720021	chr10:43745022-43745023	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201688215	chr10:43745085-43745086	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561202572	chr10:43745090-43745091	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111400154	chr10:43745119-43745120	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573200372	chr10:43745146-43745147	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185183253	chr10:43745151-43745152	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565458191	chr10:43745266-43745267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10793426	chr10:43745280-43745281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs371919940	chr10:43745288-43745289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190091870	chr10:43745332-43745333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563386641	chr10:43745343-43745344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530476721	chr10:43745401-43745402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549002802	chr10:43745420-43745421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567310838	chr10:43745421-43745422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534903321	chr10:43745432-43745433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115606342	chr10:43745439-43745440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2460553	chr10:43745454-43745455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538472887	chr10:43745576-43745577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557387190	chr10:43745581-43745582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575340457	chr10:43745583-43745584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370034233	chr10:43745587-43745588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536397282	chr10:43745596-43745597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554531462	chr10:43745597-43745598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572932738	chr10:43745633-43745634	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs577930113	chr10:43745634-43745635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540898336	chr10:43745639-43745640	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs559007664	chr10:43745648-43745649	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs577333633	chr10:43745673-43745674	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs182673881	chr10:43745676-43745677	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs1955355	chr10:43745721-43745722	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs201834724	chr10:43745777-43745778	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs144620154	chr10:43745789-43745790	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43743800-43755000	Weak transcription	Brain Angular Gyrus	brain
2	chr10:43744400-43745200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:43744600-43745000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43744600-43751800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:43744600-43756200	Enhancers	Spleen	Spleen
6	chr10:43744800-43747800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:43745000-43745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:43745000-43747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:43745000-43747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:43745000-43748600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:43745000-43751800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:43745400-43745600	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:43745400-43746600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:43745400-43746600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:43745400-43746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:43745400-43747200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:43745400-43747400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:43745600-43746000	Enhancers	Hela-S3	cervix
19	chr10:43745600-43746600	Enhancers	Brain Anterior Caudate	brain
20	chr10:43745600-43747000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr10:43745600-43747000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr10:43745600-43747200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:43745600-43747600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:43745800-43746000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:43745800-43746200	Enhancers	A549	lung
26	chr10:43745800-43747000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:43745800-43747000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:43746000-43746200	Enhancers	Placenta	Placenta
29	chr10:43746000-43746600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:43746000-43746600	Enhancers	Fetal Muscle Leg	muscle
31	chr10:43746000-43747200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:43746000-43750800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:43746200-43746400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr10:43746200-43746400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr10:43746200-43746600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:43746200-43747400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:43746200-43749400	Weak transcription	Placenta	Placenta
38	chr10:43746200-43760000	Weak transcription	A549	lung
39	chr10:43746400-43747200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr10:43746400-43747200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr10:43746600-43747000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:43746600-43751000	Weak transcription	Brain Anterior Caudate	brain
43	chr10:43746800-43747000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr10:43747000-43747200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:43747000-43747400	Enhancers	Primary hematopoietic stem cells	blood
46	chr10:43747000-43749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:43747200-43750800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:43747200-43751200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:43747200-43751200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:43747400-43751200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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