Variant report

Variant	nsv429924
Chromosome Location	chr1:175110480-175134314
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:48)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:175119497..175122069-chr1:175128749..175130315,2	K562	blood:
2	chr1:175124091..175124611-chr1:175286126..175286790,2	MCF-7	breast:
3	chr1:175117886..175119409-chr1:175282272..175283947,2	MCF-7	breast:
4	chr1:175126264..175127026-chr1:175190372..175190985,2	MCF-7	breast:
5	chr1:175124723..175127210-chr1:175127837..175131491,4	MCF-7	breast:
6	chr1:174996789..174998917-chr1:175115886..175117632,2	K562	blood:
7	chr1:175133817..175136820-chr1:175136859..175140006,3	K562	blood:
8	chr1:175121281..175121851-chr1:175287105..175287923,2	MCF-7	breast:
9	chr1:175133817..175136393-chr1:175137880..175140113,3	K562	blood:
10	chr1:175107855..175110703-chr1:175112302..175114533,2	K562	blood:
11	chr1:175115119..175117020-chr1:175119706..175122509,2	K562	blood:
12	chr1:175119497..175122069-chr1:175128749..175130315,2	K562	blood:
13	chr1:175107855..175110703-chr1:175112302..175114533,2	K562	blood:
14	chr1:174991534..174994499-chr1:175127289..175129850,2	MCF-7	breast:
15	chr1:175120832..175121579-chr1:175291692..175292526,2	MCF-7	breast:
16	chr1:175120882..175122261-chr1:175288506..175289747,9	MCF-7	breast:
17	chr1:175130416..175133379-chr1:175161541..175164085,2	MCF-7	breast:
18	chr1:175120938..175121807-chr1:175342792..175343567,3	MCF-7	breast:
19	chr1:175107717..175110703-chr1:175112302..175114533,3	K562	blood:
20	chr1:174999884..175001558-chr1:175119055..175120862,2	K562	blood:
21	chr1:175124723..175127210-chr1:175127837..175131491,4	MCF-7	breast:
22	chr1:175115501..175116143-chr1:175288535..175289144,2	K562	blood:
23	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:
24	chr1:175122415..175124453-chr1:175287912..175290526,2	MCF-7	breast:
25	chr1:175123723..175124686-chr1:175286249..175287143,2	K562	blood:
26	chr1:175127835..175129941-chr1:175131932..175135022,3	K562	blood:
27	chr1:175115119..175117020-chr1:175119706..175122509,2	K562	blood:
28	chr1:174999715..175000287-chr1:175115510..175116172,2	MCF-7	breast:
29	chr1:174977530..174979970-chr1:175117504..175119186,2	K562	blood:
30	chr1:175121249..175122160-chr20:46012857..46013384,2	MCF-7	breast:
31	chr1:175123069..175124833-chr1:175288206..175289868,26	MCF-7	breast:
32	chr1:175127835..175129941-chr1:175131932..175135022,3	K562	blood:
33	chr1:175123599..175124675-chr1:175190411..175191492,15	MCF-7	breast:
34	chr1:175123564..175124726-chr1:175190477..175191422,8	MCF-7	breast:
35	chr1:175120874..175121520-chr1:175449995..175450848,2	MCF-7	breast:
36	chr1:175123723..175124795-chr1:175288482..175289411,8	MCF-7	breast:
37	chr1:175120985..175121765-chr1:175450538..175451369,3	MCF-7	breast:
38	chr1:175130231..175131877-chr1:175135784..175138641,3	K562	blood:
39	chr1:175121100..175121853-chr1:175190564..175191561,4	MCF-7	breast:
40	chr1:175115502..175116290-chr1:175190557..175191448,3	MCF-7	breast:
41	chr1:175120893..175122048-chr1:175190726..175191384,3	MCF-7	breast:
42	chr1:175107717..175110703-chr1:175112302..175114533,3	K562	blood:
43	chr1:175124748..175125505-chr1:175286496..175287012,2	K562	blood:
44	chr1:175120876..175122178-chr1:175288064..175289820,17	K562	blood:
45	chr1:175123305..175125739-chr1:175288454..175289454,12	K562	blood:
46	chr1:175122852..175126073-chr1:175286636..175289998,3	MCF-7	breast:
47	chr1:175120904..175121812-chr1:175286147..175287013,2	K562	blood:
48	chr1:175112176..175115061-chr1:175238573..175241194,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNN-1	chr1:175126670-175127199	ENSG00000227085
2	lnc-TNN-1	chr1:175127396-175127666	ENSG00000227085
3	lnc-TNR-2	chr1:175130163-175130282	NONHSAT007750

No data

Variant related genes	Relation type
ENSG00000120333	chromatin interactions
ENSG00000235750	chromatin interactions
ENSG00000206659	chromatin interactions

Extended variants
information (count: 911 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4633248	chr1:175110480-175110481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534615357	chr1:175110506-175110507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12080467	chr1:175110517-175110518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568011228	chr1:175110538-175110539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376832960	chr1:175110554-175110555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193070595	chr1:175110569-175110570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556863644	chr1:175110614-175110615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577288862	chr1:175110621-175110622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539500926	chr1:175110628-175110629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184264460	chr1:175110650-175110651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573314440	chr1:175110725-175110726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542238127	chr1:175110745-175110746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs56845967	chr1:175110772-175110773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575830514	chr1:175110849-175110850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571810583	chr1:175110916-175110917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187048342	chr1:175110945-175110946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75833503	chr1:175110952-175110953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2187958	chr1:175110955-175110956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs149690127	chr1:175111007-175111008	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539196690	chr1:175111091-175111092	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112507321	chr1:175111100-175111101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374690102	chr1:175111103-175111104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183599315	chr1:175111112-175111113	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568504493	chr1:175111119-175111120	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553449865	chr1:175111149-175111150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs5778836	chr1:175111160-175111161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189433564	chr1:175111193-175111194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572975376	chr1:175111271-175111272	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144519429	chr1:175111279-175111280	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139281338	chr1:175111317-175111318	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570512534	chr1:175111336-175111337	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539610674	chr1:175111346-175111347	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77909251	chr1:175111353-175111354	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs60694086	chr1:175111369-175111370	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs193141163	chr1:175111396-175111397	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555762836	chr1:175111405-175111406	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575918355	chr1:175111473-175111474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544533524	chr1:175111513-175111514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558343910	chr1:175111514-175111515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10732995	chr1:175111574-175111575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540425264	chr1:175111597-175111598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201492120	chr1:175111606-175111607	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs67719767	chr1:175111607-175111608	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71117598	chr1:175111608-175111609	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78435941	chr1:175111635-175111636	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144114502	chr1:175111648-175111649	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560984367	chr1:175111671-175111672	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541441299	chr1:175111686-175111687	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561299091	chr1:175111707-175111708	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547221065	chr1:175111756-175111757	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175108000-175119800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:175109600-175114000	Weak transcription	Liver	Liver
3	chr1:175110000-175110600	Enhancers	GM12878-XiMat	blood
4	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
5	chr1:175110600-175111200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:175110600-175111600	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:175110600-175112400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:175110800-175111200	Enhancers	Primary T cells from cord blood	blood
9	chr1:175110800-175111200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:175110800-175111600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:175110800-175111800	Enhancers	Fetal Intestine Large	intestine
12	chr1:175110800-175111800	Enhancers	Fetal Intestine Small	intestine
13	chr1:175110800-175112400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:175111000-175111600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:175111000-175111600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:175111000-175111800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:175111200-175111400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:175111200-175111400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:175111200-175111400	Active TSS	Duodenum Mucosa	Duodenum
20	chr1:175111200-175111600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:175111200-175111600	Enhancers	HepG2	liver
22	chr1:175111200-175111800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:175111400-175111600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:175111400-175111600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:175111400-175111600	Enhancers	NHEK	skin
26	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:175111600-175112000	Active TSS	GM12878-XiMat	blood
28	chr1:175111600-175114800	Weak transcription	HepG2	liver
29	chr1:175111600-175115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:175111600-175115600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:175111600-175116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:175111600-175119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:175111800-175114800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:175111800-175115600	Weak transcription	Fetal Intestine Large	intestine
35	chr1:175112000-175112400	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:175112400-175113200	Enhancers	GM12878-XiMat	blood
37	chr1:175112400-175115600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:175112400-175115600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:175113800-175114000	Weak transcription	Fetal Intestine Small	intestine
40	chr1:175114000-175114800	Enhancers	Liver	Liver
41	chr1:175114800-175115000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:175114800-175115200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:175114800-175115200	Enhancers	HepG2	liver
44	chr1:175114800-175115400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:175114800-175115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:175114800-175115800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:175114800-175115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:175114800-175115800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:175114800-175115800	Flanking Active TSS	Liver	Liver
50	chr1:175114800-175116400	Enhancers	HMEC	breast

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