Variant report

Variant	esv2761305
Chromosome Location	chr7:16899197-16915436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:16903709-16903939	HepG2	liver:	n/a	n/a
2	EBF1	chr7:16901871-16902031	GM12878	blood:	n/a	n/a
3	ESR1	chr7:16900427-16900813	T-47D	breast:	n/a	n/a
4	ESR1	chr7:16900391-16900892	T-47D	breast:	n/a	n/a
5	ESR1	chr7:16900328-16900844	T-47D	breast:	n/a	n/a
6	GTF2F1	chr7:16909095-16909182	Hela-S3	cervix:	n/a	n/a
7	MAFF	chr7:16906998-16907206	HepG2	liver:	n/a	chr7:16907152-16907170
8	MAFK	chr7:16906986-16907291	HepG2	liver:	n/a	chr7:16907153-16907168
9	MAFK	chr7:16907081-16907190	HepG2	liver:	n/a	chr7:16907153-16907168
10	POLR2A	chr7:16905614-16905789	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:16914468-16914666	Gliobla	brain:	n/a	n/a
12	POLR2A	chr7:16913657-16913756	ProgFib	skin:	n/a	n/a
13	POLR2A	chr7:16903946-16904192	Gliobla	brain:	n/a	n/a
14	POLR2A	chr7:16905020-16905025	MCF10A-Er-Src	breast:	n/a	n/a
15	SETDB1	chr7:16911695-16912045	U2OS	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16913845-16913895	ProgFib	skin:	n/a
2	chr7:16913845-16913895	SKMC	muscle:	n/a
3	chr7:16913845-16913895	NT2-D1	testis:	n/a
4	chr7:16913845-16913895	T-47D	breast:	n/a
5	chr7:16913845-16913895	HCT-116	colon:	n/a
6	chr7:16913845-16913895	NHDF-neo	bronchial:	n/a
7	chr7:16913845-16913895	GM06990	blood:	n/a
8	chr7:16913845-16913895	PrEC	prostate:	n/a
9	chr7:16913845-16913895	HCPEpiC	choroid plexus:	n/a
10	chr7:16913845-16913895	GM12878	blood:	n/a
11	chr7:16913845-16913895	RPTEC	kidney:	n/a
12	chr7:16913845-16913895	Hela-S3	cervix:	n/a
13	chr7:16913845-16913895	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:16913845-16913895	SK-N-SH_RA	brain:	n/a
15	chr7:16913845-16913895	MCF-7	breast:	n/a
16	chr7:16913845-16913895	Jurkat	blood:	n/a
17	chr7:16913845-16913895	HRPEpiC	eye:	n/a
18	chr7:16913845-16913895	HL-60	blood:	n/a
19	chr7:16913845-16913895	U87	brain:	n/a
20	chr7:16913845-16913895	HEK293	kidney:	embryo
21	chr7:16913845-16913895	AG04450	lung:	fetal
22	chr7:16913845-16913895	NB4	blood:	n/a
23	chr7:16913845-16913895	AG04449	skin:	fetal
24	chr7:16913845-16913895	AG10803	skin:	n/a
25	chr7:16913845-16913895	HIPEpiC	eye:	n/a
26	chr7:16913845-16913895	NHBE	bronchial:	n/a
27	chr7:16913845-16913895	BE2_C	brain:	n/a
28	chr7:16913845-16913895	HAEpiC	amniotic membrane:	n/a
29	chr7:16913845-16913895	A549	lung:	n/a
30	chr7:16913845-16913895	AoSMC	blood vessel:	n/a
31	chr7:16913845-16913895	BJ	skin:	n/a
32	chr7:16913845-16913895	LNCaP	prostate:	n/a
33	chr7:16913845-16913895	GM12892	blood:	n/a
34	chr7:16913845-16913895	AG09319	gingival:	n/a
35	chr7:16913845-16913895	K562	blood:	n/a
36	chr7:16913845-16913895	NH-A	brain:	n/a
37	chr7:16913845-16913895	Caco-2	colon:	n/a
38	chr7:16913845-16913895	H1-hESC	embryonic stem cell:	embryo
39	chr7:16913845-16913895	HMEC	breast:	n/a
40	chr7:16913845-16913895	HUVEC	blood vessel:	n/a
41	chr7:16913845-16913895	HCF	heart:	n/a
42	chr7:16913845-16913895	SK-N-SH	brain:	n/a
43	chr7:16913845-16913895	GM19239	blood:	n/a
44	chr7:16913845-16913895	PANC-1	pancreas:	n/a
45	chr7:16913845-16913895	Hepatocyte	liver:	n/a
46	chr7:16913845-16913895	HRCEpiC	kidney:	n/a
47	chr7:16913845-16913895	GM12891	blood:	n/a
48	chr7:16913845-16913895	IMR90	lung:	fetal
49	chr7:16913845-16913895	MCF10A-Er-Src	breast:	n/a
50	chr7:16913845-16913895	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:16909538..16911043-chr7:16914853..16916500,2	K562	blood:
2	chr7:16895265..16896877-chr7:16900259..16902475,2	MCF-7	breast:
3	chr7:16909538..16911043-chr7:16914853..16916500,2	K562	blood:
4	chr7:16840041..16842170-chr7:16902969..16904527,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR2-1	chr7:16913040-16913467	NONHSAT119307

No data

Variant related genes	Relation type
RAD17P1	TF binding region
RAD17P1	CpG island
ENSG00000106541	chromatin interactions

Extended variants
information (count: 855 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11798	chr7:16899197-16899198	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374042324	chr7:16899201-16899202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562400871	chr7:16899205-16899206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201656343	chr7:16899222-16899223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533057923	chr7:16899226-16899227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371449966	chr7:16899285-16899286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551351955	chr7:16899339-16899340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185875614	chr7:16899342-16899343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527364734	chr7:16899357-16899358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573200040	chr7:16899362-16899363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4719484	chr7:16899376-16899377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs190149362	chr7:16899380-16899381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376205834	chr7:16899402-16899403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181699887	chr7:16899406-16899407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186836244	chr7:16899440-16899441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559234502	chr7:16899451-16899452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571967339	chr7:16899553-16899554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7793435	chr7:16899565-16899566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150496496	chr7:16899578-16899579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192030797	chr7:16899658-16899659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572380124	chr7:16899670-16899671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183863903	chr7:16899698-16899699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187631017	chr7:16899700-16899701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368169486	chr7:16899720-16899721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200005112	chr7:16899722-16899723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200991705	chr7:16899723-16899724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199864043	chr7:16899727-16899728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397812203	chr7:16899732-16899733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561083033	chr7:16899759-16899760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568662383	chr7:16899773-16899774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386710782	chr7:16899775-16899776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6978436	chr7:16899776-16899777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189877998	chr7:16899828-16899829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182196810	chr7:16899835-16899836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545009380	chr7:16899845-16899846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187111948	chr7:16899895-16899896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191628259	chr7:16899915-16899916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548977586	chr7:16899923-16899924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112438842	chr7:16899925-16899926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114296286	chr7:16899932-16899933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550389247	chr7:16899937-16899938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571906182	chr7:16899965-16899966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539300241	chr7:16899971-16899972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547747385	chr7:16900002-16900003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566381383	chr7:16900030-16900031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536209331	chr7:16900043-16900044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554545650	chr7:16900055-16900056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576122681	chr7:16900061-16900062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113772375	chr7:16900080-16900081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185244593	chr7:16900083-16900084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16886000-16900000	Weak transcription	Small Intestine	intestine
2	chr7:16887400-16900800	Weak transcription	Pancreas	Pancrea
3	chr7:16888000-16901400	Weak transcription	Colonic Mucosa	Colon
4	chr7:16888200-16899800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:16890400-16905200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:16891800-16920200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:16892600-16915600	Weak transcription	Stomach Mucosa	stomach
8	chr7:16895200-16900000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:16896800-16900000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:16897600-16899200	Strong transcription	Fetal Intestine Small	intestine
11	chr7:16897800-16902600	Strong transcription	Fetal Intestine Large	intestine
12	chr7:16899000-16904000	Weak transcription	Lung	lung
13	chr7:16899200-16901200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:16899800-16901200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr7:16900000-16900200	Enhancers	Small Intestine	intestine
16	chr7:16900000-16902000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:16900000-16902200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:16901200-16902800	Strong transcription	Fetal Intestine Small	intestine
19	chr7:16901200-16911800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:16902000-16911400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:16902200-16911600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:16902600-16903800	Weak transcription	Fetal Intestine Large	intestine
23	chr7:16902800-16903800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:16903800-16904000	Strong transcription	Fetal Intestine Small	intestine
25	chr7:16903800-16904400	Genic enhancers	Fetal Intestine Large	intestine
26	chr7:16904000-16904200	Enhancers	Lung	lung
27	chr7:16904000-16904200	Bivalent/Poised TSS	Osteobl	bone
28	chr7:16904000-16904400	Weak transcription	Fetal Intestine Small	intestine
29	chr7:16904400-16904600	Enhancers	Fetal Intestine Large	intestine
30	chr7:16904400-16906200	Enhancers	Fetal Intestine Small	intestine
31	chr7:16904600-16905400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:16905200-16905800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:16905400-16906200	Enhancers	Fetal Intestine Large	intestine
34	chr7:16905800-16913000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:16906200-16906600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:16906200-16909000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:16906600-16906800	Enhancers	Fetal Intestine Small	intestine
38	chr7:16906800-16907800	Weak transcription	Fetal Intestine Small	intestine
39	chr7:16907800-16908200	Strong transcription	Fetal Intestine Small	intestine
40	chr7:16908200-16909000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:16909000-16909400	Strong transcription	Fetal Intestine Large	intestine
42	chr7:16909000-16909400	Strong transcription	Fetal Intestine Small	intestine
43	chr7:16909400-16910600	Weak transcription	Fetal Intestine Large	intestine
44	chr7:16909400-16911000	Weak transcription	Fetal Intestine Small	intestine
45	chr7:16910600-16915600	Strong transcription	Fetal Intestine Large	intestine
46	chr7:16911000-16911600	Strong transcription	Fetal Intestine Small	intestine
47	chr7:16911400-16914000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr7:16911600-16914200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:16911600-16917000	Weak transcription	Fetal Intestine Small	intestine
50	chr7:16911800-16913800	Strong transcription	Rectal Mucosa Donor 29	rectum

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