Variant report

Variant	esv2422309
Chromosome Location	chr3:161242389-161425932
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
2	chr3:161277610..161278375-chr3:161317637..161318163,2	MCF-7	breast:
3	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:
4	chr3:161347197..161349552-chr3:161356011..161358857,2	MCF-7	breast:
5	chr3:161260574..161262753-chr3:161263348..161265146,2	MCF-7	breast:
6	chr3:161358345..161359934-chr3:161364741..161367383,2	K562	blood:
7	chr3:160889184..160889706-chr3:161286958..161287780,2	MCF-7	breast:
8	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:
9	chr3:161258952..161261503-chr3:161267723..161269425,2	MCF-7	breast:
10	chr3:161288935..161292971-chr3:161293220..161296787,4	K562	blood:
11	chr3:161277802..161278537-chr3:161469868..161470746,2	MCF-7	breast:
12	chr3:161347197..161349552-chr3:161356011..161358857,2	MCF-7	breast:
13	chr3:161373878..161376279-chr3:161388444..161390253,2	MCF-7	breast:
14	chr3:161355978..161357623-chr3:161357960..161359774,3	MCF-7	breast:
15	chr3:161125406..161127626-chr3:161276162..161278825,2	MCF-7	breast:
16	chr3:161141625..161142575-chr3:161277741..161278641,2	MCF-7	breast:
17	chr3:161346627..161348617-chr3:161350742..161352671,2	K562	blood:
18	chr3:161277599..161279410-chr3:161282056..161284601,2	MCF-7	breast:
19	chr3:161373878..161376279-chr3:161388444..161390253,2	MCF-7	breast:
20	chr3:161390301..161392995-chr3:161393453..161395023,2	MCF-7	breast:
21	chr3:161260574..161262753-chr3:161263348..161265146,2	MCF-7	breast:
22	chr3:161346627..161348617-chr3:161350742..161352671,2	K562	blood:
23	chr3:161277599..161279410-chr3:161282056..161284601,2	MCF-7	breast:
24	chr3:161226423..161227058-chr3:161276669..161277342,2	MCF-7	breast:
25	chr3:161333610..161335405-chr3:161335438..161337666,2	MCF-7	breast:
26	chr3:161277610..161278375-chr3:161317637..161318163,2	MCF-7	breast:
27	chr3:161347807..161349997-chr3:161376409..161377941,2	MCF-7	breast:
28	chr3:161354763..161357600-chr3:161359609..161362263,3	K562	blood:
29	chr3:161089138..161091531-chr3:161277246..161278957,3	MCF-7	breast:
30	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:
31	chr3:161310251..161314365-chr3:161314679..161319678,4	MCF-7	breast:
32	chr3:161398334..161399929-chr3:161403036..161405549,2	MCF-7	breast:
33	chr3:161139368..161142098-chr3:161277561..161279557,2	MCF-7	breast:
34	chr3:161333610..161335405-chr3:161335438..161337666,2	MCF-7	breast:
35	chr3:161310251..161314365-chr3:161314679..161319678,4	MCF-7	breast:
36	chr3:161288935..161292971-chr3:161293220..161296787,4	K562	blood:
37	chr3:160813469..160814648-chr3:161277747..161278407,3	MCF-7	breast:
38	chr3:161258952..161261503-chr3:161267723..161269425,2	MCF-7	breast:
39	chr3:161347807..161349997-chr3:161376409..161377941,2	MCF-7	breast:
40	chr3:161390301..161392995-chr3:161393453..161395023,2	MCF-7	breast:
41	chr3:160991137..160993138-chr3:161275406..161276943,2	MCF-7	breast:
42	chr3:161398334..161399929-chr3:161403036..161405549,2	MCF-7	breast:
43	chr3:161167642..161168268-chr3:161276756..161277746,3	MCF-7	breast:
44	chr3:161087613..161089123-chr3:161278946..161281684,2	MCF-7	breast:
45	chr3:161354917..161360014-chr3:161360082..161365935,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 3962 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3962 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187015145	chr3:161242419-161242420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531154087	chr3:161242448-161242449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550883357	chr3:161242479-161242480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73166055	chr3:161242503-161242504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80334677	chr3:161242521-161242522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191705771	chr3:161242555-161242556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73166056	chr3:161242566-161242567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551334030	chr3:161242600-161242601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554651816	chr3:161242638-161242639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574776170	chr3:161242665-161242666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537352940	chr3:161242677-161242678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78019188	chr3:161242809-161242810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184189739	chr3:161242834-161242835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569807081	chr3:161242884-161242885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545941761	chr3:161242933-161242934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559781655	chr3:161242978-161242979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62278346	chr3:161243021-161243022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369133170	chr3:161243031-161243032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188712283	chr3:161243059-161243060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531068028	chr3:161243078-161243079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142532083	chr3:161243081-161243082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564490180	chr3:161243104-161243105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376544707	chr3:161243106-161243107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193041772	chr3:161243152-161243153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7635683	chr3:161243189-161243190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565777263	chr3:161243193-161243194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185593444	chr3:161243205-161243206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548170937	chr3:161243256-161243257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568068327	chr3:161243305-161243306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562535385	chr3:161243317-161243318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536920855	chr3:161243366-161243367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557235759	chr3:161243374-161243375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116746853	chr3:161243395-161243396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9859309	chr3:161244449-161244450	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530978224	chr3:161244539-161244540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368777441	chr3:161244540-161244541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550540348	chr3:161244583-161244584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs118023593	chr3:161244614-161244615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181329141	chr3:161244630-161244631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546510799	chr3:161244641-161244642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566465800	chr3:161244687-161244688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549086107	chr3:161244690-161244691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548812886	chr3:161244697-161244698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112775448	chr3:161244701-161244702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537965120	chr3:161244718-161244719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558088109	chr3:161244749-161244750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528123639	chr3:161244773-161244774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142227899	chr3:161258600-161258601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554029277	chr3:161258613-161258614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573890489	chr3:161258629-161258630	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161242400-161243200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:161243200-161243400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:161244400-161244800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:161258600-161259200	Enhancers	Dnd41	blood
5	chr3:161265800-161266600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:161265800-161267200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:161266000-161266400	Enhancers	Dnd41	blood
8	chr3:161266400-161274200	Weak transcription	Dnd41	blood
9	chr3:161266600-161270400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:161266800-161267000	Enhancers	Fetal Muscle Leg	muscle
11	chr3:161267000-161268800	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:161267200-161270200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:161267400-161267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:161268800-161269600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:161269200-161276800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:161269400-161269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:161269600-161270800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:161269800-161271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:161270200-161271400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:161270200-161275800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:161270400-161271200	Enhancers	Brain Germinal Matrix	brain
22	chr3:161270400-161271400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:161270400-161271800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:161270600-161271400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:161270800-161271200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:161270800-161271200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:161270800-161271200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:161270800-161271400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:161270800-161271400	Enhancers	Fetal Muscle Leg	muscle
30	chr3:161271000-161271400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:161271200-161272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:161271200-161275000	Weak transcription	Brain Germinal Matrix	brain
33	chr3:161271400-161272400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:161271400-161274600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:161271400-161275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:161271400-161276000	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:161271800-161272200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:161272200-161276800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:161272400-161272800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:161272400-161273600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:161272800-161279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:161273600-161275400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:161274200-161275000	Enhancers	Fetal Heart	heart
44	chr3:161274200-161275200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr3:161274200-161275600	Enhancers	Dnd41	blood
46	chr3:161274600-161275800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:161274600-161276400	Enhancers	Fetal Stomach	stomach
48	chr3:161275000-161275800	Enhancers	Brain Germinal Matrix	brain
49	chr3:161275000-161275800	Weak transcription	Fetal Heart	heart
50	chr3:161275200-161277800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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