Variant report

Variant	nsv949126
Chromosome Location	chr4:173466221-174051451
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:146)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:146 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:173609516..173610288-chr4:173751358..173752025,2	MCF-7	breast:
2	chr4:173702658..173704418-chr4:173706596..173708903,2	K562	blood:
3	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
4	chr4:174042321..174044732-chr4:174047198..174049277,2	K562	blood:
5	chr4:173916638..173918298-chr4:173918525..173921197,2	K562	blood:
6	chr4:173883780..173885458-chr4:173885702..173887760,2	K562	blood:
7	chr4:173969259..173971101-chr4:173972699..173974910,2	K562	blood:
8	chr4:173854312..173856112-chr4:173863065..173865000,2	K562	blood:
9	chr4:173825823..173827720-chr4:173831036..173833694,2	K562	blood:
10	chr4:174042321..174044732-chr4:174047198..174049277,2	K562	blood:
11	chr4:173973154..173975649-chr4:173977335..173980311,2	MCF-7	breast:
12	chr4:173946331..173946965-chr4:174222418..174223019,3	K562	blood:
13	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
14	chr4:173994321..173996230-chr4:173997138..173999462,2	K562	blood:
15	chr4:173953039..173954761-chr4:174089165..174091781,2	MCF-7	breast:
16	chr4:173960802..173963006-chr4:174092691..174094595,2	MCF-7	breast:
17	chr4:173955478..173958712-chr4:174088455..174090684,3	MCF-7	breast:
18	chr4:173565287..173567628-chr4:173572131..173574267,2	MCF-7	breast:
19	chr4:173787262..173790044-chr4:173794520..173796071,2	MCF-7	breast:
20	chr4:174046313..174049132-chr4:174086110..174088705,2	K562	blood:
21	chr4:173921400..173924253-chr4:173927947..173929574,3	K562	blood:
22	chr4:173786122..173788666-chr4:173791027..173793744,2	K562	blood:
23	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
24	chr4:173771209..173772763-chr4:173784527..173786166,2	K562	blood:
25	chr4:173756774..173758571-chr4:173760264..173762795,2	K562	blood:
26	chr4:173561754..173564425-chr4:173566220..173568096,2	K562	blood:
27	chr4:173921645..173924242-chr4:173924722..173926710,2	K562	blood:
28	chr4:173634834..173636568-chr4:173638119..173640340,2	K562	blood:
29	chr4:173772490..173774977-chr4:173778723..173780805,2	MCF-7	breast:
30	chr4:173946014..173946590-chr4:174178701..174179520,2	MCF-7	breast:
31	chr4:173772777..173774432-chr4:173778610..173781377,2	MCF-7	breast:
32	chr4:173950769..173952890-chr4:174089588..174091145,2	MCF-7	breast:
33	chr4:173958437..173960994-chr4:173973406..173975836,2	MCF-7	breast:
34	chr4:173777187..173778088-chr4:173786612..173787411,2	MCF-7	breast:
35	chr4:173946138..173947087-chr4:174178618..174179507,4	K562	blood:
36	chr2:113475206..113477952-chr4:173478464..173481229,2	K562	blood:
37	chr11:62608628..62609409-chr4:173591389..173591909,2	HCT-116	colon:
38	chr4:173570901..173573284-chr4:173580941..173583054,2	MCF-7	breast:
39	chr4:173956885..173959440-chr4:173990470..173992727,2	MCF-7	breast:
40	chr4:173945938..173946909-chr4:174152734..174153717,3	K562	blood:
41	chr4:173917478..173920172-chr4:173925204..173929304,3	MCF-7	breast:
42	chr4:173946418..173948777-chr4:174089957..174093220,3	MCF-7	breast:
43	chr4:174026266..174028030-chr4:174092674..174094208,2	K562	blood:
44	chr4:173956885..173959440-chr4:173990470..173992727,2	MCF-7	breast:
45	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:
46	chr4:173933398..173935446-chr4:174254852..174256461,2	K562	blood:
47	chr4:173973985..173977707-chr4:173978830..173981711,3	MCF-7	breast:
48	chr4:173946662..173949460-chr4:173950705..173952890,2	K562	blood:
49	chr4:173565287..173567628-chr4:173572131..173574267,2	MCF-7	breast:
50	chr4:173751234..173752114-chr4:173786685..173787554,3	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-13	chr4:173647975-173648029	NONHSAT099210
2	lnc-HMGB2-13	chr4:173551086-173551342	NONHSAT099209
3	lnc-HMGB2-12	chr4:173821856-173821988	ucscGeneNc_uc003isw_2
4	lnc-HMGB2-11	chr4:173908348-173911353	NONHSAT099211
5	lnc-HMGB2-11	chr4:173916407-173916913	NONHSAT099211
6	lnc-HMGB2-13	chr4:173552590-173552622	NONHSAT099209
7	lnc-HMGB2-12	chr4:173792116-173792287	ucscGeneNc_uc003isw_2
8	lnc-HMGB2-12	chr4:173787663-173787917	ucscGeneNc_uc003isw_2
9	lnc-HMGB2-13	chr4:173555835-173557753	NONHSAT099210
10	lnc-HMGB2-13	chr4:173585281-173585413	NONHSAT099210
11	lnc-HMGB2-4	chr4:174048772-174048952	XLOC_004161
12	lnc-HMGB2-12	chr4:173789165-173789197	ucscGeneNc_uc003isw_2
13	lnc-HMGB2-13	chr4:173585281-173585413	NONHSAT099209
14	lnc-HMGB2-13	chr4:173555541-173555712	NONHSAT099209
15	lnc-HMGB2-4	chr4:174046340-174046372	XLOC_004161

No data

Variant related genes	Relation type
ENSG00000272870	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000245213	chromatin interactions
ENSG00000109586	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000248774	chromatin interactions
ENSG00000164105	chromatin interactions
TULP4	miRNA target sites

Extended variants
information (count: 14109 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:14109 , 50 per page) page: 1 2 3 4 5 6 7 ... 283

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs337997	chr4:173466221-173466222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184654773	chr4:173466231-173466232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549068982	chr4:173466245-173466246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562974333	chr4:173466270-173466271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568207717	chr4:173466300-173466301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536846947	chr4:173466331-173466332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528036955	chr4:173466353-173466354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373747247	chr4:173466359-173466360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371420258	chr4:173466384-173466385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs337998	chr4:173466420-173466421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200191780	chr4:173466439-173466440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74760279	chr4:173466461-173466462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565865579	chr4:173466492-173466493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552974970	chr4:173466506-173466507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72704851	chr4:173466507-173466508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187301623	chr4:173466593-173466594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555160012	chr4:173466597-173466598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527639530	chr4:173466628-173466629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575343623	chr4:173466630-173466631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148407150	chr4:173466644-173466645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191390137	chr4:173466660-173466661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577883156	chr4:173466698-173466699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540548377	chr4:173466705-173466706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80139836	chr4:173466771-173466772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183612520	chr4:173466773-173466774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368291548	chr4:173466840-173466841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13130915	chr4:173466872-173466873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76894297	chr4:173466882-173466883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34809952	chr4:173466901-173466902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150959127	chr4:173466906-173466907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570645127	chr4:173466907-173466908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs337999	chr4:173466933-173466934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139549475	chr4:173466990-173466991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143367543	chr4:173467012-173467013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535440060	chr4:173467022-173467023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555369163	chr4:173467039-173467040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575232251	chr4:173467040-173467041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559725661	chr4:173467118-173467119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567766264	chr4:173467167-173467168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375764176	chr4:173467248-173467249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs33913853	chr4:173467251-173467252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558042455	chr4:173467261-173467262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374558781	chr4:173467321-173467322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113935016	chr4:173467322-173467323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146740726	chr4:173467335-173467336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs338000	chr4:173467403-173467404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188324578	chr4:173467443-173467444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562938427	chr4:173467460-173467461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531681603	chr4:173467479-173467480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572502052	chr4:173467480-173467481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Chronic lymphocytic leukemia	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2018 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173465200-173466800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:173465400-173469400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:173465600-173466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:173465600-173469000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:173465600-173469000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:173465800-173469000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:173465800-173469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:173466000-173468800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:173466200-173469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:173466600-173466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:173466800-173468200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:173468200-173468400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:173468200-173468600	Enhancers	GM12878-XiMat	blood
14	chr4:173468400-173468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:173468800-173471400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:173468800-173472400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:173469000-173469200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:173469000-173469200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:173469000-173469600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:173469000-173469600	Enhancers	Fetal Stomach	stomach
21	chr4:173469000-173470600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:173469000-173470600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:173469000-173470600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:173469000-173470600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:173469000-173471600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:173469200-173469600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:173469200-173469800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr4:173469400-173470600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:173469600-173470600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:173469600-173478000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:173469800-173472200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:173470600-173471800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:173470600-173472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:173470600-173476400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:173470600-173477200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:173471400-173476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:173471600-173477000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:173471800-173472000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:173472200-173472400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:173472200-173477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:173472400-173472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:173472800-173473000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:173473000-173476600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:173476400-173478400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:173476400-173478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:173476600-173477200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:173477000-173477400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:173477000-173477800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:173477000-173478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:173477200-173477400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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