Variant report

Variant	nsv887649
Chromosome Location	chr7:13215378-13262586
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:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
2	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
3	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
4	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
5	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
6	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
7	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
8	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
9	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
10	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
11	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
12	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
13	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
14	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
15	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
16	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
17	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
18	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
19	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
20	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
21	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
22	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988
2	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 1807 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1807 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17166863	chr7:13215378-13215379	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549265682	chr7:13215390-13215391	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114318809	chr7:13215398-13215399	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35455942	chr7:13215433-13215434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542968537	chr7:13215516-13215517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556647616	chr7:13215566-13215567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117732980	chr7:13215576-13215577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150666750	chr7:13215646-13215647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542832199	chr7:13215664-13215665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559263022	chr7:13215682-13215683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373387809	chr7:13215683-13215684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569351595	chr7:13215701-13215702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139908597	chr7:13215759-13215760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564516968	chr7:13215770-13215771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527384155	chr7:13215776-13215777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17166865	chr7:13215829-13215830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200138196	chr7:13215844-13215845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143298424	chr7:13215848-13215849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17166867	chr7:13215867-13215868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560589964	chr7:13215870-13215871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549581152	chr7:13215881-13215882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549381043	chr7:13215902-13215903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79482384	chr7:13215905-13215906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193019739	chr7:13215918-13215919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184391074	chr7:13215965-13215966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558034024	chr7:13215968-13215969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372853425	chr7:13215972-13215973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566291323	chr7:13215999-13216000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58342418	chr7:13216004-13216005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536664832	chr7:13216012-13216013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556655411	chr7:13216027-13216028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188824713	chr7:13216028-13216029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191996667	chr7:13216029-13216030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553175781	chr7:13216057-13216058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572950740	chr7:13216058-13216059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545175684	chr7:13216062-13216063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55941705	chr7:13216148-13216149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530788147	chr7:13216188-13216189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543717436	chr7:13216192-13216193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80132750	chr7:13216200-13216201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563511352	chr7:13216208-13216209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2215223	chr7:13216219-13216220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs555264171	chr7:13216236-13216237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572252820	chr7:13216244-13216245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184133974	chr7:13216252-13216253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73681443	chr7:13216255-13216256	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372398497	chr7:13216282-13216283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528670558	chr7:13216293-13216294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147539623	chr7:13216326-13216327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372510410	chr7:13216327-13216328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13214200-13215400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:13214600-13215600	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:13214800-13215400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:13215000-13218800	Weak transcription	HepG2	liver
5	chr7:13215200-13215400	Active TSS	Duodenum Mucosa	Duodenum
6	chr7:13215200-13215800	Enhancers	Fetal Intestine Large	intestine
7	chr7:13215200-13216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:13215400-13215600	Enhancers	Fetal Intestine Small	intestine
9	chr7:13215400-13215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:13215400-13215800	Enhancers	K562	blood
11	chr7:13215600-13216200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:13215800-13218800	Weak transcription	K562	blood
13	chr7:13216200-13216400	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:13218600-13221600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:13218800-13219200	Enhancers	K562	blood
16	chr7:13218800-13219800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:13218800-13220000	Enhancers	HepG2	liver
18	chr7:13219200-13220200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:13219400-13220000	Enhancers	Fetal Stomach	stomach
20	chr7:13219600-13220000	Enhancers	Fetal Kidney	kidney
21	chr7:13219600-13220200	Enhancers	Colon Smooth Muscle	Colon
22	chr7:13219600-13220800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:13219600-13221000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:13219800-13220000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:13219800-13220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:13219800-13220200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:13220000-13220200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:13220000-13221000	Weak transcription	Fetal Stomach	stomach
29	chr7:13220000-13221200	Weak transcription	Fetal Kidney	kidney
30	chr7:13220000-13221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:13220000-13223600	Weak transcription	HepG2	liver
32	chr7:13220200-13220400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:13220200-13220600	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:13220200-13220600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:13220400-13220800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:13220600-13220800	Enhancers	A549	lung
37	chr7:13220600-13221000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:13220600-13221000	Enhancers	Colon Smooth Muscle	Colon
39	chr7:13220600-13221200	Enhancers	Fetal Muscle Leg	muscle
40	chr7:13220800-13221200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:13220800-13221200	Enhancers	Fetal Brain Female	brain
42	chr7:13220800-13221200	Flanking Active TSS	A549	lung
43	chr7:13220800-13221400	Enhancers	Brain Substantia Nigra	brain
44	chr7:13221000-13221400	Enhancers	Fetal Stomach	stomach
45	chr7:13221200-13221400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:13221200-13221400	Enhancers	Fetal Kidney	kidney
47	chr7:13221200-13221400	Enhancers	A549	lung
48	chr7:13223600-13225800	Enhancers	HepG2	liver
49	chr7:13224800-13225200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:13227200-13228400	Enhancers	Fetal Brain Female	brain

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