Variant report

Variant	nsv5641
Chromosome Location	chr7:13012784-13030258
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12753447..12755088-chr7:13019924..13021549,2	K562	blood:
2	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
3	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
4	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:
5	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
6	chr7:13002443..13004669-chr7:13013594..13016442,2	K562	blood:
7	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
8	chr7:12726106..12728466-chr7:13017401..13019789,2	MCF-7	breast:
9	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
10	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
11	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
12	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
13	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
14	chr7:13007791..13010494-chr7:13016088..13018337,2	K562	blood:
15	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
16	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
17	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 736 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533127103	chr7:13012834-13012835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377701253	chr7:13012836-13012837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543915633	chr7:13012876-13012877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185297865	chr7:13012890-13012891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529391139	chr7:13012909-13012910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549625577	chr7:13012926-13012927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566272776	chr7:13012970-13012971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528833038	chr7:13012974-13012975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551742430	chr7:13012999-13013000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190147840	chr7:13013017-13013018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536609341	chr7:13013065-13013066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567291641	chr7:13013066-13013067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77713539	chr7:13013068-13013069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567053596	chr7:13013073-13013074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192795410	chr7:13013078-13013079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112595732	chr7:13013085-13013086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184847072	chr7:13013092-13013093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545289103	chr7:13013112-13013113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530132297	chr7:13013116-13013117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188190704	chr7:13013121-13013122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368961751	chr7:13013146-13013147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180681243	chr7:13013147-13013148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78071970	chr7:13013188-13013189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567139646	chr7:13013194-13013195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556731042	chr7:13013269-13013270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563651643	chr7:13013281-13013282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574232095	chr7:13013330-13013331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563622077	chr7:13013338-13013339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543133148	chr7:13013361-13013362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559997467	chr7:13013367-13013368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528651270	chr7:13013387-13013388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184762410	chr7:13013401-13013402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532803237	chr7:13013451-13013452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373155108	chr7:13013475-13013476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531214973	chr7:13013503-13013504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73678934	chr7:13013530-13013531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551112297	chr7:13013573-13013574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151234822	chr7:13013629-13013630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535952705	chr7:13013656-13013657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546240910	chr7:13013677-13013678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117604129	chr7:13013678-13013679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538417856	chr7:13013710-13013711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558700079	chr7:13013740-13013741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7790122	chr7:13013751-13013752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550201912	chr7:13013794-13013795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200149681	chr7:13013859-13013860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538140546	chr7:13013861-13013862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201542265	chr7:13013864-13013865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574042384	chr7:13013877-13013878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543167228	chr7:13013881-13013882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13010800-13014000	Weak transcription	Liver	Liver
2	chr7:13014000-13015400	Enhancers	Liver	Liver
3	chr7:13015000-13015200	Enhancers	Colon Smooth Muscle	Colon
4	chr7:13015400-13018000	Weak transcription	Liver	Liver
5	chr7:13015800-13016000	Enhancers	Colon Smooth Muscle	Colon
6	chr7:13018000-13019200	Active TSS	Liver	Liver
7	chr7:13018400-13018800	Enhancers	A549	lung
8	chr7:13018800-13019200	Flanking Active TSS	A549	lung
9	chr7:13018800-13019200	Enhancers	HepG2	liver
10	chr7:13019200-13019600	Enhancers	Liver	Liver
11	chr7:13019200-13020000	Enhancers	A549	lung
12	chr7:13019200-13024400	Weak transcription	HepG2	liver
13	chr7:13019600-13021600	Weak transcription	Liver	Liver
14	chr7:13020000-13027000	Weak transcription	A549	lung
15	chr7:13021600-13025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:13021600-13025200	Enhancers	Liver	Liver
17	chr7:13023200-13025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:13023400-13023800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:13023600-13023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:13023800-13024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:13023800-13024800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13024400-13025200	Enhancers	HepG2	liver
23	chr7:13024400-13027400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:13024800-13025000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:13024800-13025200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:13024800-13025200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:13024800-13025200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:13024800-13025200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:13024800-13025200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:13024800-13025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:13024800-13025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:13024800-13025200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:13024800-13025200	Enhancers	Gastric	stomach
34	chr7:13024800-13025200	Enhancers	Pancreas	Pancrea
35	chr7:13024800-13025200	Enhancers	K562	blood
36	chr7:13024800-13026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:13024800-13026400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:13024800-13027200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:13024800-13027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:13025000-13025200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:13025000-13025800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:13025000-13027000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:13025200-13026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:13025200-13026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:13025200-13027800	Weak transcription	Pancreas	Pancrea
46	chr7:13025200-13029000	Weak transcription	Liver	Liver
47	chr7:13025400-13025800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:13026000-13026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:13026200-13027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:13026400-13027200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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