Variant report

Variant	esv2755089
Chromosome Location	chr5:96992975-97099320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:240)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:240 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:97092073-97092104	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
3	CEBPB	chr5:97085589-97085836	HepG2	liver:	n/a	chr5:97085700-97085711
4	CEBPB	chr5:97070883-97071301	IMR90	lung:	n/a	n/a
5	CTCF	chr5:97061920-97062070	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr5:97061960-97062110	GM12873	blood:	n/a	n/a
7	CTCF	chr5:97047335-97047347	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr5:97061900-97062050	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr5:97061960-97062110	HCT-116	colon:	n/a	n/a
10	CTCF	chr5:97066501-97066508	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr5:97061940-97062090	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr5:97061900-97062050	AG09319	gingival:	n/a	n/a
13	CTCF	chr5:97061980-97062130	NHEK	skin:	n/a	n/a
14	CTCF	chr5:97061880-97062030	NHEK	skin:	n/a	n/a
15	CTCF	chr5:97061973-97062042	LNCaP	prostate:	n/a	n/a
16	CTCF	chr5:97061980-97062130	AG09319	gingival:	n/a	n/a
17	CTCF	chr5:97061880-97062030	HMEC	breast:	n/a	n/a
18	CTCF	chr5:97061900-97062050	HPF	lung:	n/a	n/a
19	CTCF	chr5:97061860-97062010	GM12873	blood:	n/a	n/a
20	CTCF	chr5:97061900-97062050	GM12870	blood:	n/a	n/a
21	CTCF	chr5:97047308-97047334	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr5:97066510-97066536	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr5:97061860-97062010	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr5:97062000-97062150	NHLF	lung:	n/a	n/a
25	CTCF	chr5:97061900-97062050	AG04450	lung:	n/a	n/a
26	CTCF	chr5:97061880-97062030	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr5:97061900-97062050	BE2_C	brain:	n/a	n/a
28	CTCF	chr5:97061900-97062050	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:97061900-97062050	GM12865	blood:	n/a	n/a
30	CTCF	chr5:97061860-97062010	GM12874	blood:	n/a	n/a
31	CTCF	chr5:97061940-97062090	BE2_C	brain:	n/a	n/a
32	CTCF	chr5:97053635-97053677	GM10266	blood:	n/a	n/a
33	CTCF	chr5:97061880-97062030	GM12866	blood:	n/a	n/a
34	CTCF	chr5:97059020-97059170	HEK293	kidney:	n/a	n/a
35	CTCF	chr5:97061840-97061990	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr5:97061960-97062110	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr5:97061940-97062090	AG10803	skin:	n/a	n/a
38	CTCF	chr5:97062000-97062150	BJ	skin:	n/a	n/a
39	CTCF	chr5:97061940-97062090	HEK293	kidney:	n/a	n/a
40	CTCF	chr5:97058940-97059090	GM12872	blood:	n/a	n/a
41	CTCF	chr5:97036926-97036962	GM20000	blood:	n/a	n/a
42	CTCF	chr5:97061860-97062010	SAEC	small airway:	n/a	n/a
43	CTCF	chr5:97061960-97062110	SAEC	small airway:	n/a	n/a
44	CTCF	chr5:97017686-97017758	LNCaP	prostate:	n/a	n/a
45	CTCF	chr5:97061820-97061970	HVMF	connective:	n/a	n/a
46	CTCF	chr5:97058980-97059130	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr5:97061860-97062010	GM06990	blood:	n/a	n/a
48	CTCF	chr5:97061960-97062110	GM12869	blood:	n/a	n/a
49	CTCF	chr5:97062020-97062170	GM12864	blood:	n/a	n/a
50	CTCF	chr5:97061940-97062090	HMF	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
2	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
3	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
4	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	NR_105028
2	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	XLOC_004483
3	lnc-CTD-2215E18.1.1-2	chr5:97004254-97004366	NONHSAT102931
4	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006750	XLOC_004483
5	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006755	NR_105028
6	lnc-CTD-2215E18.1.1-6	chr5:97073598-97074617	NONHSAT102935
7	lnc-CTD-2215E18.1.1-2	chr5:97006297-97006750	NONHSAT102931

No data

Variant related genes	Relation type
ENSG00000248931	TF binding region
ENSG00000251193	TF binding region

Extended variants
information (count: 2466 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2466 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6556995	chr5:96992975-96992976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560760382	chr5:96993003-96993004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142585852	chr5:96993011-96993012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192333088	chr5:96993059-96993060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17087681	chr5:96993093-96993094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539104053	chr5:96993101-96993102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183331119	chr5:96993111-96993112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569270952	chr5:96993214-96993215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187758634	chr5:96993294-96993295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77726451	chr5:96993327-96993328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573407795	chr5:96993363-96993364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534158394	chr5:96993402-96993403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559092114	chr5:96993410-96993411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34654313	chr5:96993462-96993463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192433249	chr5:96993502-96993503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113810155	chr5:96993505-96993506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562951608	chr5:96993529-96993530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574854209	chr5:96993587-96993588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542530691	chr5:96993619-96993620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560994703	chr5:96993644-96993645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75378083	chr5:96993737-96993738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546509625	chr5:96993770-96993771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565079034	chr5:96993814-96993815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57472041	chr5:96993817-96993818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551047942	chr5:96993819-96993820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184826802	chr5:96993822-96993823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569282554	chr5:96993919-96993920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566892358	chr5:96993993-96993994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536613865	chr5:96993994-96993995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112271619	chr5:96994029-96994030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567087801	chr5:96994069-96994070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539924384	chr5:96994146-96994147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375496250	chr5:96994150-96994151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150094160	chr5:96994201-96994202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373363968	chr5:96994254-96994255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577323711	chr5:96994276-96994277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538359317	chr5:96994322-96994323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556606447	chr5:96994334-96994335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574917491	chr5:96994363-96994364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138398895	chr5:96994369-96994370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554532176	chr5:96994375-96994376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200667117	chr5:96994397-96994398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141517400	chr5:96994504-96994505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540516138	chr5:96994609-96994610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564934945	chr5:96994629-96994630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532304733	chr5:96994666-96994667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549866182	chr5:96994692-96994693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189760038	chr5:96994750-96994751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563000210	chr5:96994782-96994783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530203760	chr5:96994791-96994792	Enhancers	n/a	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96992800-96994800	Enhancers	HUVEC	blood vessel
2	chr5:96993000-96993400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:96993000-96993600	Enhancers	Adipose Nuclei	Adipose
4	chr5:96993000-96994600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:96993400-96993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96993600-96994600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:96993800-96994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:96993800-96994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:96994000-96994400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:96994000-96994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:96994000-96996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:96994200-96994600	Enhancers	Liver	Liver
13	chr5:96994600-96994800	Enhancers	Adipose Nuclei	Adipose
14	chr5:97002600-97004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:97004000-97004600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:97004200-97004600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:97004800-97006000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:97006000-97026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:97021000-97021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:97021600-97021800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:97026800-97027400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:97027400-97035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:97035600-97036000	Active TSS	Colon Smooth Muscle	Colon
24	chr5:97049800-97050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:97050000-97050600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:97050000-97050800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:97050400-97050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:97050800-97051800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:97052400-97052600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:97052800-97053400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:97059200-97059400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr5:97059400-97059600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:97059400-97059600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:97059400-97059600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:97059600-97064800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:97061600-97062000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:97062000-97063800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:97063800-97064400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:97064200-97064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:97064800-97065000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:97065000-97065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:97066600-97067800	Enhancers	Fetal Heart	heart
43	chr5:97067000-97067600	Enhancers	Psoas Muscle	Psoas
44	chr5:97067000-97067600	Enhancers	HSMMtube	muscle
45	chr5:97069000-97075000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:97070400-97071800	Enhancers	HMEC	breast
47	chr5:97070600-97071800	Enhancers	NHEK	skin
48	chr5:97070800-97071200	Enhancers	HUVEC	blood vessel
49	chr5:97070800-97071200	Enhancers	NHLF	lung
50	chr5:97070800-97071400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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