Variant report

Variant	nsv1002054
Chromosome Location	chr1:247108896-247161897
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:31)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247134263..247136085-chr1:247241844..247243624,2	K562	blood:
2	chr1:247145097..247146678-chr1:247148555..247150310,2	K562	blood:
3	chr1:247137339..247140267-chr1:247140866..247143086,4	K562	blood:
4	chr1:247140226..247142417-chr1:247149478..247152457,2	K562	blood:
5	chr1:247158690..247160814-chr11:10829475..10831701,2	MCF-7	breast:
6	chr1:247138215..247140006-chr1:247242158..247244457,2	K562	blood:
7	chr1:247140498..247143013-chr1:247145266..247147665,2	K562	blood:
8	chr1:247145097..247146678-chr1:247148555..247150310,2	K562	blood:
9	chr1:247112074..247113587-chr1:247113622..247116618,2	MCF-7	breast:
10	chr1:247106858..247108880-chr1:247109823..247112372,2	MCF-7	breast:
11	chr1:247140226..247142417-chr1:247149478..247152457,2	K562	blood:
12	chr1:247111510..247113379-chr1:247137669..247139614,2	K562	blood:
13	chr1:247095732..247098585-chr1:247108516..247110039,2	K562	blood:
14	chr1:247136099..247140606-chr1:247141190..247144010,6	K562	blood:
15	chr1:247140883..247143696-chr1:247267943..247270450,3	MCF-7	breast:
16	chr1:247137339..247140267-chr1:247140866..247143086,4	K562	blood:
17	chr1:247093366..247095419-chr1:247122181..247124867,2	K562	blood:
18	chr1:247134027..247135891-chr1:247168950..247171611,2	K562	blood:
19	chr1:247093751..247096422-chr1:247117733..247120065,2	K562	blood:
20	chr1:247150077..247152155-chr1:247154277..247156770,2	K562	blood:
21	chr1:247140498..247143013-chr1:247145266..247147665,2	K562	blood:
22	chr1:247112074..247113587-chr1:247113622..247116618,2	MCF-7	breast:
23	chr1:247150077..247152155-chr1:247154277..247156770,2	K562	blood:
24	chr1:247095350..247097520-chr1:247156671..247158364,2	K562	blood:
25	chr1:247114794..247117413-chr1:247121906..247123599,2	K562	blood:
26	chr1:247136099..247140606-chr1:247141190..247144010,6	K562	blood:
27	chr1:247099451..247101729-chr1:247109483..247112346,2	K562	blood:
28	chr1:247094890..247097025-chr1:247137891..247140739,2	K562	blood:
29	chr1:247094518..247097018-chr1:247145719..247148664,2	MCF-7	breast:
30	chr1:247114794..247117413-chr1:247121906..247123599,2	K562	blood:
31	chr1:247111510..247113379-chr1:247137669..247139614,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHCTF1-3	chr1:247143142-247143306	NR_037894
2	lnc-AHCTF1-3	chr1:247130997-247131094	NR_037894
3	lnc-AHCTF1-3	chr1:247130997-247131094	NONHSAT010746
4	lnc-AHCTF1-3	chr1:247151423-247151557	NR_037894
5	lnc-AHCTF1-3	chr1:247108849-247109129	NR_037894
6	lnc-AHCTF1-3	chr1:247108980-247109129	NONHSAT010746
7	lnc-AHCTF1-3	chr1:247130997-247131094	NR_037892
8	lnc-AHCTF1-3	chr1:247151423-247151557	NONHSAT010746
9	lnc-AHCTF1-3	chr1:247108849-247109129	NR_037892
10	lnc-AHCTF1-3	chr1:247151423-247151557	NR_037892

No data

Variant related genes	Relation type
ENSG00000135747	chromatin interactions
ENSG00000246308	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000197472	chromatin interactions

Extended variants
information (count: 2241 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543156462	chr1:247108914-247108915	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528805814	chr1:247108935-247108936	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs376070027	chr1:247108969-247108970	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs559412672	chr1:247108971-247108972	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs2642982	chr1:247109014-247109015	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551315725	chr1:247109027-247109028	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs180733755	chr1:247109028-247109029	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs185082300	chr1:247109121-247109122	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs550579788	chr1:247109134-247109135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567499163	chr1:247109148-247109149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536047782	chr1:247109163-247109164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6426191	chr1:247109168-247109169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370630789	chr1:247109186-247109187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535564327	chr1:247109224-247109225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2642983	chr1:247109267-247109268	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs200408255	chr1:247109292-247109293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs41267541	chr1:247109296-247109297	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562857380	chr1:247109397-247109398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575299437	chr1:247109400-247109401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77733148	chr1:247109405-247109406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386641791	chr1:247109407-247109408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199663334	chr1:247109408-247109409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12409610	chr1:247109434-247109435	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113217376	chr1:247109436-247109437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374967364	chr1:247109445-247109446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545082692	chr1:247109460-247109461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576768785	chr1:247109465-247109466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2800217	chr1:247109468-247109469	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs76505171	chr1:247109483-247109484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377429522	chr1:247109496-247109497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73146692	chr1:247109503-247109504	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146775841	chr1:247109521-247109522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546786722	chr1:247109528-247109529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140728628	chr1:247109542-247109543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574613726	chr1:247109567-247109568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182272944	chr1:247109568-247109569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558667028	chr1:247109583-247109584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2800216	chr1:247109609-247109610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540680025	chr1:247109615-247109616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369630526	chr1:247109619-247109620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537436414	chr1:247109639-247109640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186954681	chr1:247109652-247109653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2818887	chr1:247109656-247109657	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191700017	chr1:247109670-247109671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72766578	chr1:247109678-247109679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536872833	chr1:247109695-247109696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553117070	chr1:247109696-247109697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145909159	chr1:247109702-247109703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545144461	chr1:247109753-247109754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183203464	chr1:247109856-247109857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Bipolar disorder	19114987	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Lobular carcinoma	20658264	CNVD
Malaria	21633513	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247095800-247124800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:247096000-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:247096000-247110800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:247096000-247110800	Weak transcription	Right Atrium	heart
5	chr1:247096000-247114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:247096000-247121000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:247096000-247121800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:247096000-247125000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:247096000-247130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:247096000-247131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:247096000-247131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:247096200-247109800	Weak transcription	HUVEC	blood vessel
13	chr1:247096200-247110000	Weak transcription	HepG2	liver
14	chr1:247096200-247110600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:247096200-247112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:247096200-247112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:247096200-247117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:247096200-247123000	Weak transcription	K562	blood
19	chr1:247096200-247128400	Weak transcription	Fetal Stomach	stomach
20	chr1:247096400-247110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:247102400-247123000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:247102800-247109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:247102800-247122000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:247103000-247121600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:247105200-247110400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:247105400-247110000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:247106600-247126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:247107000-247109800	Strong transcription	Dnd41	blood
29	chr1:247107400-247110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:247107600-247109200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:247107600-247120400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:247107800-247114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:247107800-247117400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:247107800-247130200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:247109200-247110400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:247109600-247109800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:247109600-247115200	Enhancers	Ovary	ovary
38	chr1:247109800-247110000	Enhancers	Aorta	Aorta
39	chr1:247109800-247110800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:247109800-247110800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:247109800-247111000	Enhancers	Brain Hippocampus Middle	brain
42	chr1:247109800-247111200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:247109800-247111400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:247109800-247111400	Enhancers	HUVEC	blood vessel
45	chr1:247109800-247114200	Weak transcription	Dnd41	blood
46	chr1:247110000-247110400	Enhancers	Brain Anterior Caudate	brain
47	chr1:247110000-247111400	Enhancers	HepG2	liver
48	chr1:247110000-247117400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:247110200-247111600	Weak transcription	Aorta	Aorta
50	chr1:247110400-247110600	Enhancers	Brain Inferior Temporal Lobe	brain

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