Variant report

Variant	nsv430523
Chromosome Location	chr12:87757132-87865832
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:87838924..87840559-chr12:87844144..87846635,2	K562	blood:
2	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:
3	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:
4	chr12:87775414..87778904-chr12:87782463..87785146,3	MCF-7	breast:
5	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
6	chr12:87838924..87840559-chr12:87844144..87846635,2	K562	blood:
7	chr12:87828977..87831928-chr12:87832715..87835394,2	MCF-7	breast:
8	chr12:87834030..87835899-chr12:87838496..87840072,2	MCF-7	breast:
9	chr12:87834030..87835899-chr12:87838496..87840072,2	MCF-7	breast:
10	chr12:87834051..87835864-chr12:87837793..87840659,2	MCF-7	breast:
11	chr12:87784045..87784894-chr3:56835588..56836187,2	HCT-116	colon:
12	chr12:87848497..87850626-chr12:87852001..87854653,2	K562	blood:
13	chr12:87819379..87822423-chr12:87825316..87827871,3	MCF-7	breast:
14	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
15	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:
16	chr12:87848497..87850626-chr12:87852001..87854653,2	K562	blood:
17	chr12:87829514..87833509-chr12:87836513..87839734,3	MCF-7	breast:
18	chr12:87834051..87835864-chr12:87837793..87840659,2	MCF-7	breast:
19	chr12:87821658..87824109-chr12:87834973..87836828,2	MCF-7	breast:
20	chr12:87775414..87778904-chr12:87782463..87785146,3	MCF-7	breast:
21	chr12:87805246..87807657-chr12:87814690..87817082,2	MCF-7	breast:
22	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
23	chr12:87829514..87833509-chr12:87836513..87839734,3	MCF-7	breast:
24	chr12:87857104..87857940-chr19:36000474..36000984,2	MCF-7	breast:
25	chr12:87823587..87825538-chr12:87827654..87830409,3	MCF-7	breast:
26	chr12:87821658..87824109-chr12:87834973..87836828,2	MCF-7	breast:
27	chr12:87860374..87860994-chr2:39119358..39120187,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163947	chromatin interactions

Extended variants
information (count: 3618 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3618 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4564410	chr12:87757148-87757149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530861075	chr12:87757167-87757168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544485229	chr12:87757233-87757234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564347454	chr12:87757238-87757239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138906203	chr12:87757256-87757257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149058250	chr12:87757284-87757285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566997099	chr12:87757315-87757316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4269999	chr12:87757324-87757325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556382320	chr12:87757355-87757356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371040155	chr12:87757413-87757414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191405075	chr12:87757414-87757415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143100500	chr12:87757426-87757427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541976492	chr12:87757439-87757440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148182157	chr12:87757452-87757453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558001051	chr12:87757456-87757457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6538082	chr12:87757467-87757468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182726736	chr12:87757483-87757484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77749365	chr12:87757515-87757516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142698769	chr12:87757522-87757523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75760158	chr12:87757537-87757538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555618184	chr12:87757568-87757569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535233015	chr12:87757595-87757596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575483930	chr12:87757629-87757630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6538083	chr12:87757632-87757633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564367273	chr12:87757673-87757674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6538084	chr12:87757684-87757685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540672566	chr12:87757728-87757729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560262919	chr12:87757745-87757746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187804239	chr12:87757759-87757760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532902954	chr12:87757786-87757787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545557255	chr12:87757816-87757817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549030123	chr12:87757887-87757888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138213754	chr12:87757890-87757891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7980176	chr12:87757915-87757916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531743099	chr12:87757949-87757950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529573616	chr12:87757980-87757981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55747896	chr12:87757981-87757982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150557141	chr12:87757987-87757988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73411887	chr12:87758005-87758006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192213731	chr12:87758045-87758046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566310610	chr12:87758070-87758071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80258646	chr12:87758095-87758096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555457429	chr12:87758109-87758110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184976384	chr12:87758132-87758133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544462625	chr12:87758161-87758162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561966106	chr12:87758167-87758168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74323511	chr12:87758168-87758169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577893601	chr12:87758170-87758171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111552398	chr12:87758186-87758187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529134849	chr12:87758218-87758219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87752400-87772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87760000-87763000	Enhancers	Fetal Intestine Large	intestine
3	chr12:87760200-87760400	Enhancers	Fetal Intestine Small	intestine
4	chr12:87761600-87762000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:87761800-87762400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:87762200-87763000	Enhancers	Fetal Intestine Small	intestine
7	chr12:87772200-87772400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:87772400-87772600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:87775000-87775200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:87775000-87776000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:87776000-87777000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:87776600-87778400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:87776600-87778400	Enhancers	Fetal Intestine Small	intestine
14	chr12:87776600-87778600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:87776800-87777000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:87776800-87778400	Enhancers	Fetal Intestine Large	intestine
17	chr12:87776800-87778400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:87776800-87779000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:87777000-87777800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:87777000-87777800	Enhancers	Fetal Brain Male	brain
21	chr12:87777000-87777800	Enhancers	Fetal Lung	lung
22	chr12:87777000-87777800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:87777000-87778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:87777000-87778600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:87777000-87779000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:87777000-87779200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:87777200-87778200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:87777400-87777800	Enhancers	HMEC	breast
29	chr12:87777400-87778400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:87777400-87778600	Enhancers	Stomach Mucosa	stomach
31	chr12:87777600-87778400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:87778200-87778600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:87793800-87798000	Weak transcription	Fetal Lung	lung
34	chr12:87799400-87800400	Enhancers	HSMM	muscle
35	chr12:87799400-87801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:87799400-87801400	Enhancers	HMEC	breast
37	chr12:87799600-87800200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:87799600-87801200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:87799800-87800200	Enhancers	NHEK	skin
40	chr12:87800200-87800800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:87801200-87801600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:87801600-87801800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:87801800-87817600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:87802800-87803000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:87803200-87803400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:87807000-87807400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:87807000-87808800	Enhancers	Fetal Heart	heart
48	chr12:87807400-87807800	Enhancers	Fetal Stomach	stomach
49	chr12:87807400-87808200	Enhancers	NH-A	brain
50	chr12:87808000-87808200	Enhancers	Fetal Lung	lung

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