Variant report

Variant	esv3449633
Chromosome Location	chr7:101990732-101999430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 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	BATF	chr7:101999193-101999814	GM12878	blood:	n/a	n/a
2	BATF	chr7:101995463-101995686	GM12878	blood:	n/a	n/a
3	BATF	chr7:101997012-101997266	GM12878	blood:	n/a	n/a
4	BATF	chr7:101997851-101998066	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:101994622-101994770	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:101999319-101999808	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:101997984-101998246	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:101992379-101992526	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:101996913-101997326	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:101997514-101997663	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:101997473-101997748	HepG2	liver:	n/a	n/a
12	CTCF	chr7:101997852-101998187	K562	blood:	n/a	n/a
13	CTCF	chr7:101997828-101998046	K562	blood:	n/a	n/a
14	CTCF	chr7:101997746-101998188	A549	lung:	n/a	n/a
15	CTCF	chr7:101997858-101998132	A549	lung:	n/a	n/a
16	CTCF	chr7:101996643-101998335	A549	lung:	n/a	n/a
17	CTCF	chr7:101997753-101998150	A549	lung:	n/a	n/a
18	CTCF	chr7:101997822-101998077	K562	blood:	n/a	n/a
19	CTCF	chr7:101997964-101998028	GM13976	blood:	n/a	n/a
20	EBF1	chr7:101997873-101998246	GM12878	blood:	n/a	n/a
21	EBF1	chr7:101997857-101998282	GM12878	blood:	n/a	n/a
22	EBF1	chr7:101996974-101997274	GM12878	blood:	n/a	n/a
23	EBF1	chr7:101999409-101999781	GM12878	blood:	n/a	n/a
24	EP300	chr7:101993340-101993969	GM12878	blood:	n/a	n/a
25	EP300	chr7:101996237-101996755	GM12878	blood:	n/a	chr7:101996322-101996336
26	EP300	chr7:101995111-101995621	GM12878	blood:	n/a	n/a
27	EP300	chr7:101994535-101994771	GM12878	blood:	n/a	n/a
28	EP300	chr7:101996960-101997603	GM12878	blood:	n/a	n/a
29	EP300	chr7:101997834-101998255	GM12878	blood:	n/a	n/a
30	EP300	chr7:101999315-101999683	GM12878	blood:	n/a	n/a
31	FOSL2	chr7:101997457-101998218	HepG2	liver:	n/a	n/a
32	FOSL2	chr7:101996162-101996416	HepG2	liver:	n/a	n/a
33	FOSL2	chr7:101995314-101995649	HepG2	liver:	n/a	n/a
34	FOSL2	chr7:101993574-101994057	HepG2	liver:	n/a	n/a
35	FOSL2	chr7:101991494-101991835	HepG2	liver:	n/a	n/a
36	FOSL2	chr7:101994536-101994763	HepG2	liver:	n/a	n/a
37	GABPA	chr7:101997846-101998319	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr7:101997903-101998039	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr7:101993333-101993919	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr7:101996629-101996944	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr7:101996274-101996388	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr7:101997020-101997330	Hela-S3	cervix:	n/a	n/a
43	GATA2	chr7:101991772-101992058	K562	blood:	n/a	n/a
44	GATA2	chr7:101994793-101995071	K562	blood:	n/a	n/a
45	GATA2	chr7:101993207-101993491	K562	blood:	n/a	n/a
46	GATA2	chr7:101994425-101994780	K562	blood:	n/a	n/a
47	GATA2	chr7:101996695-101997717	K562	blood:	n/a	n/a
48	GATA2	chr7:101997842-101998208	K562	blood:	n/a	n/a
49	HEY1	chr7:101997434-101997794	K562	blood:	n/a	n/a
50	HEY1	chr7:101996772-101996904	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101998514-101998564	SAEC	small airway:	n/a
2	chr7:101998514-101998564	SAEC	small airway:	n/a
3	chr7:101998514-101998564	NHDF-neo	bronchial:	n/a
4	chr7:101991189-101991239	SK-N-MC	brain:	n/a
5	chr7:101999041-101999091	A549	lung:	n/a
6	chr7:101991189-101991239	IMR90	lung:	fetal
7	chr7:101998514-101998564	HUVEC	blood vessel:	n/a
8	chr7:101999041-101999091	SK-N-SH_RA	brain:	n/a
9	chr7:101999041-101999091	AoSMC	blood vessel:	n/a
10	chr7:101998514-101998564	HCF	heart:	n/a
11	chr7:101999041-101999091	HCPEpiC	choroid plexus:	n/a
12	chr7:101991189-101991239	AG09309	skin:	n/a
13	chr7:101991189-101991239	MCF10A-Er-Src	breast:	n/a
14	chr7:101999041-101999091	BE2_C	brain:	n/a
15	chr7:101998514-101998564	AG09319	gingival:	n/a
16	chr7:101998514-101998564	MCF-7	breast:	n/a
17	chr7:101991189-101991239	PrEC	prostate:	n/a
18	chr7:101999041-101999091	PFSK-1	brain:	n/a
19	chr7:101991189-101991239	SK-N-SH_RA	brain:	n/a
20	chr7:101999041-101999091	ProgFib	skin:	n/a
21	chr7:101998514-101998564	GM12891	blood:	n/a
22	chr7:101998514-101998564	ECC-1	luminal epithelium:	n/a
23	chr7:101999041-101999091	HRCEpiC	kidney:	n/a
24	chr7:101999041-101999091	SK-N-SH	brain:	n/a
25	chr7:101999041-101999091	HUVEC	blood vessel:	n/a
26	chr7:101999041-101999091	IMR90	lung:	fetal
27	chr7:101998514-101998564	HL-60	blood:	n/a
28	chr7:101999041-101999091	ovcar-3	ovarian:	n/a
29	chr7:101991189-101991239	A549	lung:	n/a
30	chr7:101999041-101999091	Hela-S3	cervix:	n/a
31	chr7:101998514-101998564	H1-hESC	embryonic stem cell:	embryo
32	chr7:101991189-101991239	NT2-D1	testis:	n/a
33	chr7:101998514-101998564	HepG2	liver:	n/a
34	chr7:101998514-101998564	HIPEpiC	eye:	n/a
35	chr7:101991189-101991239	HRCEpiC	kidney:	n/a
36	chr7:101991189-101991239	Caco-2	colon:	n/a
37	chr7:101998514-101998564	NB4	blood:	n/a
38	chr7:101999041-101999091	NHDF-neo	bronchial:	n/a
39	chr7:101998514-101998564	HRCEpiC	kidney:	n/a
40	chr7:101998514-101998564	GM06990	blood:	n/a
41	chr7:101999041-101999091	HepG2	liver:	n/a
42	chr7:101998514-101998564	ovcar-3	ovarian:	n/a
43	chr7:101991189-101991239	AG04449	skin:	fetal
44	chr7:101999041-101999091	HEK293	kidney:	embryo
45	chr7:101998514-101998564	NHBE	bronchial:	n/a
46	chr7:101999041-101999091	T-47D	breast:	n/a
47	chr7:101998514-101998564	ProgFib	skin:	n/a
48	chr7:101998514-101998564	Jurkat	blood:	n/a
49	chr7:101991189-101991239	SAEC	small airway:	n/a
50	chr7:101991189-101991239	NHBE	bronchial:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKRIP1-1	chr7:101993676-101993848	ENSG00000259313.1
2	lnc-PRKRIP1-1	chr7:101995384-101995807	ENSG00000259313.1

No data

Variant related genes	Relation type
SPDYE6	TF binding region
PRKRIP1	TF binding region
SPDYE6	CpG island
PRKRIP1	CpG island

Extended variants
information (count: 136 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572828620	chr7:101991143-101991144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540035339	chr7:101991231-101991232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555576890	chr7:101991248-101991249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573762433	chr7:101991284-101991285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542259594	chr7:101991287-101991288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367684311	chr7:101991743-101991744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191060990	chr7:101991744-101991745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11542807	chr7:101991813-101991814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62482883	chr7:101991849-101991850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112263267	chr7:101991957-101991958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377100578	chr7:101991962-101991963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370480033	chr7:101991965-101991966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563650883	chr7:101991966-101991967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530897815	chr7:101992013-101992014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111422632	chr7:101992027-101992028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373970654	chr7:101992051-101992052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546251606	chr7:101992064-101992065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564750632	chr7:101992102-101992103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367958090	chr7:101992266-101992267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372519966	chr7:101992270-101992271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528844854	chr7:101992364-101992365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587775505	chr7:101992366-101992367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587688743	chr7:101992368-101992369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568601054	chr7:101992370-101992371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1966364	chr7:101992381-101992382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1966365	chr7:101992383-101992384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370502500	chr7:101992395-101992396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529468635	chr7:101992457-101992458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375959540	chr7:101992515-101992516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550623461	chr7:101992596-101992597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568875842	chr7:101992681-101992682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539031811	chr7:101992705-101992706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557377535	chr7:101992721-101992722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111484825	chr7:101992861-101992862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67657403	chr7:101992996-101992997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62482884	chr7:101993179-101993180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3973234	chr7:101993241-101993242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112819113	chr7:101993270-101993271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113149601	chr7:101993485-101993486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200536354	chr7:101993823-101993824	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs372277654	chr7:101993846-101993847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs375422182	chr7:101993865-101993866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113253120	chr7:101993995-101993996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374776632	chr7:101994080-101994081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564055700	chr7:101994084-101994085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532174689	chr7:101994085-101994086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529970435	chr7:101994086-101994087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201234571	chr7:101994087-101994088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201797300	chr7:101994090-101994091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555376175	chr7:101994092-101994093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101987400-102003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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