Variant report

Variant	nsv834482
Chromosome Location	chr2:184939548-185066635
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:185010224..185012242-chr2:185015883..185018733,2	K562	blood:
2	chr2:185048995..185051495-chr2:185054071..185055731,2	K562	blood:
3	chr2:185048995..185051495-chr2:185054071..185055731,2	K562	blood:
4	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
5	chr2:185053723..185055741-chr2:185058684..185061541,2	K562	blood:
6	chr2:184975933..184978535-chr2:184980820..184983519,2	K562	blood:
7	chr2:185050606..185053529-chr2:185055758..185057591,2	K562	blood:
8	chr2:185027163..185028822-chr2:185041434..185043457,2	K562	blood:
9	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
10	chr2:185056201..185058976-chr2:185059740..185064773,6	K562	blood:
11	chr2:185052029..185054073-chr2:185054906..185057591,2	K562	blood:
12	chr2:184738935..184741579-chr2:185018317..185019872,2	K562	blood:
13	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
14	chr2:185030293..185033303-chr2:185042017..185046003,4	K562	blood:
15	chr2:185027163..185028822-chr2:185041434..185043457,2	K562	blood:
16	chr2:185049732..185051441-chr2:185066416..185068378,2	K562	blood:
17	chr2:185052029..185054073-chr2:185054906..185057591,2	K562	blood:
18	chr2:185017191..185018721-chr2:185022322..185025318,2	K562	blood:
19	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
20	chr2:185017191..185018721-chr2:185022322..185025318,2	K562	blood:
21	chr2:185032130..185034735-chr2:185068262..185070242,2	K562	blood:
22	chr2:185039166..185041142-chr2:185069813..185071820,2	K562	blood:
23	chr2:185046979..185048851-chr2:185065608..185068607,2	K562	blood:
24	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
25	chr2:185056201..185058976-chr2:185059740..185064773,6	K562	blood:
26	chr2:185010224..185012242-chr2:185015883..185018733,2	K562	blood:
27	chr2:185039098..185041209-chr2:185044660..185047313,2	K562	blood:
28	chr2:185030205..185032507-chr2:185041818..185044084,3	K562	blood:
29	chr2:185063557..185066298-chr2:185074059..185077042,2	K562	blood:
30	chr2:185017202..185019755-chr2:185059188..185062172,2	K562	blood:
31	chr2:185053723..185055741-chr2:185058684..185061541,2	K562	blood:
32	chr2:185030205..185032507-chr2:185041818..185044084,3	K562	blood:
33	chr2:185050606..185053529-chr2:185055758..185057591,2	K562	blood:
34	chr2:185052728..185055643-chr2:185086397..185088845,2	K562	blood:
35	chr2:185056201..185058411-chr2:185059740..185062010,3	K562	blood:
36	chr2:185039098..185041209-chr2:185044660..185047313,2	K562	blood:
37	chr2:185046979..185048851-chr2:185065608..185068607,2	K562	blood:
38	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:
39	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
40	chr2:185030293..185033303-chr2:185042017..185046003,4	K562	blood:
41	chr2:185049732..185051441-chr2:185066416..185068378,2	K562	blood:
42	chr2:184975933..184978535-chr2:184980820..184983519,2	K562	blood:
43	chr2:185017202..185019755-chr2:185059188..185062172,2	K562	blood:
44	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
45	chr2:185020880..185023021-chr2:185080890..185083971,3	K562	blood:
46	chr2:185056201..185058411-chr2:185059740..185062010,3	K562	blood:

No data

Extended variants
information (count: 1748 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1748 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549053974	chr2:184939549-184939550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542574851	chr2:184939596-184939597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115710268	chr2:184939615-184939616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534593164	chr2:184939620-184939621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548157518	chr2:184939667-184939668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149805249	chr2:184939692-184939693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376407260	chr2:184939711-184939712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72893274	chr2:184939724-184939725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554942115	chr2:184939764-184939765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112853158	chr2:184939769-184939770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369712282	chr2:184939790-184939791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576511120	chr2:184939892-184939893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535561151	chr2:184940014-184940015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369623149	chr2:184940050-184940051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544825887	chr2:184940068-184940069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145757855	chr2:184940076-184940077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191005845	chr2:184940164-184940165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564257360	chr2:184940176-184940177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78489024	chr2:184940185-184940186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141609214	chr2:184940197-184940198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35567288	chr2:184940198-184940199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35139660	chr2:184940289-184940290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397755948	chr2:184940290-184940291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529039851	chr2:184940298-184940299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549141935	chr2:184940357-184940358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559489271	chr2:184940368-184940369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528123949	chr2:184940398-184940399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138456897	chr2:184940485-184940486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571124381	chr2:184940511-184940512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533678627	chr2:184940525-184940526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550165324	chr2:184940529-184940530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546751206	chr2:184940545-184940546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74542683	chr2:184940575-184940576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535648541	chr2:184940590-184940591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183187074	chr2:184940592-184940593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566890516	chr2:184940606-184940607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565819507	chr2:184940628-184940629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534759154	chr2:184940649-184940650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142652720	chr2:184940658-184940659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111811772	chr2:184940695-184940696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543711525	chr2:184940697-184940698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186712888	chr2:184940708-184940709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368893087	chr2:184940795-184940796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34816145	chr2:184940816-184940817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143386474	chr2:184940873-184940874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542824802	chr2:184940922-184940923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559527847	chr2:184940949-184940950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147988786	chr2:184940969-184940970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74269754	chr2:184941028-184941029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564903377	chr2:184941036-184941037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184937400-184945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:184941600-184943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:184943200-184943600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:184943200-184943600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:184943200-184943600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:184944400-184944600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:184945200-184946000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:184945600-184946000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:184945800-184946000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:184945800-184946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:184975600-184976000	Enhancers	Fetal Brain Female	brain
12	chr2:184975800-184976600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:184976200-184976800	Enhancers	Brain Germinal Matrix	brain
14	chr2:184979200-184986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:184982800-184983200	Enhancers	Fetal Stomach	stomach
16	chr2:184983200-184984800	Weak transcription	Fetal Stomach	stomach
17	chr2:184984400-184985200	Enhancers	Fetal Brain Male	brain
18	chr2:184984800-184985200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:184984800-184985600	Enhancers	Fetal Stomach	stomach
20	chr2:185009000-185018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:185009200-185009800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:185009600-185010200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:185013800-185014200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:185018400-185018600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:185018400-185019000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:185018400-185019000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:185018600-185019200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:185018800-185019600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:185019000-185019800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:185019200-185019400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:185019200-185019600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:185019200-185019600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:185019200-185019600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:185019200-185019600	Enhancers	HMEC	breast
35	chr2:185019600-185019800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:185019600-185022000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:185019800-185020000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:185019800-185020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:185020000-185020400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:185020400-185020800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:185020400-185021000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:185021800-185022200	Enhancers	HUVEC	blood vessel
43	chr2:185022000-185023200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:185033400-185034400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:185033400-185034600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:185033600-185034400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:185034000-185034400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:185034000-185034600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:185034200-185034600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:185039200-185039800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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