Variant report

Variant	nsv913835
Chromosome Location	chr21:44705881-44749141
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:94)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44621829..44623825-chr21:44707236..44708911,2	MCF-7	breast:
2	chr21:44742990..44744880-chr21:44748317..44750273,3	K562	blood:
3	chr21:44706940..44709706-chr21:44752216..44754417,2	MCF-7	breast:
4	chr21:44707026..44709584-chr21:44711825..44714234,4	MCF-7	breast:
5	chr21:44686324..44688088-chr21:44719367..44721595,2	MCF-7	breast:
6	chr21:44711563..44716678-chr21:44717027..44721561,5	K562	blood:
7	chr21:44714739..44716356-chr21:44724057..44727021,2	MCF-7	breast:
8	chr21:44628231..44629803-chr21:44707259..44708840,2	MCF-7	breast:
9	chr21:44738290..44742080-chr21:44751674..44755301,4	MCF-7	breast:
10	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
11	chr21:44745288..44747468-chr21:44752348..44754312,2	K562	blood:
12	chr21:44748255..44751409-chr21:44846546..44850265,3	MCF-7	breast:
13	chr21:44721071..44723779-chr21:44759564..44762057,2	MCF-7	breast:
14	chr21:44710146..44712440-chr21:44740183..44742844,2	MCF-7	breast:
15	chr21:44710146..44712440-chr21:44740183..44742844,2	MCF-7	breast:
16	chr21:44732327..44736023-chr21:44736240..44739481,5	K562	blood:
17	chr21:44727065..44728697-chr21:44937489..44939216,2	MCF-7	breast:
18	chr21:44699112..44702350-chr21:44708742..44712038,3	K562	blood:
19	chr21:44711563..44716678-chr21:44717027..44721561,5	K562	blood:
20	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
21	chr21:44726728..44729245-chr21:44741716..44743499,2	K562	blood:
22	chr21:44722277..44726277-chr21:44726725..44730096,4	MCF-7	breast:
23	chr21:44709764..44710516-chr9:132227150..132227921,2	MCF-7	breast:
24	chr21:44742990..44744614-chr21:44748317..44750273,2	K562	blood:
25	chr21:44731355..44733755-chr21:44845507..44847180,2	MCF-7	breast:
26	chr21:44735289..44735952-chr21:44817590..44818141,2	MCF-7	breast:
27	chr21:44727094..44729103-chr21:44732251..44734088,2	K562	blood:
28	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
29	chr21:44719242..44721879-chr21:44722324..44725954,3	K562	blood:
30	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
31	chr21:44727094..44729103-chr21:44732251..44734088,2	K562	blood:
32	chr21:44706813..44710200-chr21:44846120..44848407,3	MCF-7	breast:
33	chr21:44722495..44724442-chr21:44739075..44741261,2	K562	blood:
34	chr21:44715443..44717639-chr21:44718360..44721203,4	MCF-7	breast:
35	chr21:44707328..44709243-chr21:44761426..44763987,2	MCF-7	breast:
36	chr21:44720158..44722240-chr21:44729496..44731770,3	MCF-7	breast:
37	chr21:44696406..44698403-chr21:44725515..44727974,2	MCF-7	breast:
38	chr21:44727213..44729404-chr21:44763537..44765714,2	MCF-7	breast:
39	chr21:44738622..44740634-chr21:44845636..44848344,3	MCF-7	breast:
40	chr21:44720158..44722240-chr21:44729496..44731770,3	MCF-7	breast:
41	chr21:44586693..44590370-chr21:44748985..44751636,4	MCF-7	breast:
42	chr21:44737976..44738524-chr21:44847133..44847703,2	MCF-7	breast:
43	chr21:44732327..44736023-chr21:44736240..44739481,5	K562	blood:
44	chr21:44743195..44745867-chr21:44750806..44753702,3	MCF-7	breast:
45	chr21:44629762..44632427-chr21:44730847..44732356,2	MCF-7	breast:
46	chr21:44726831..44728745-chr21:44729014..44732051,4	MCF-7	breast:
47	chr21:44742990..44744614-chr21:44748317..44750273,2	K562	blood:
48	chr21:44707026..44709584-chr21:44711825..44714234,4	MCF-7	breast:
49	chr21:44726831..44728745-chr21:44729014..44732051,4	MCF-7	breast:
50	chr21:44719242..44721879-chr21:44722324..44725954,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYAA-15	chr21:44719842-44720160	l_2225_chr21:44719532-44722851_ovary
2	lnc-SIK1-6	chr21:44742089-44742729	NONHSAT082395
3	lnc-CRYAA-15	chr21:44721540-44721875	l_2225_chr21:44719532-44722851_ovary
4	lnc-CRYAA-15	chr21:44719533-44719828	l_2225_chr21:44719532-44722851_ovary
5	lnc-CRYAA-16	chr21:44734342-44734599	NONHSAT082394
6	lnc-CRYAA-15	chr21:44721906-44722851	l_2225_chr21:44719532-44722851_ovary
7	lnc-CRYAA-16	chr21:44729888-44730541	NONHSAT082394
8	lnc-SIK1-6	chr21:44746039-44746120	NONHSAT082395

No data

Variant related genes	Relation type
ENSG00000142178	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000160202	chromatin interactions

Extended variants
information (count: 2037 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2037 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28677950	chr21:44705888-44705889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111605201	chr21:44705921-44705922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375234936	chr21:44705931-44705932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113297226	chr21:44705955-44705956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111525031	chr21:44705960-44705961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28474984	chr21:44705991-44705992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113071425	chr21:44705993-44705994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28711231	chr21:44706010-44706011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28607726	chr21:44706017-44706018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28482933	chr21:44706036-44706037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28450595	chr21:44706060-44706061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28564780	chr21:44706065-44706066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113406318	chr21:44706096-44706097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112331037	chr21:44706115-44706116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62218884	chr21:44706122-44706123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112673430	chr21:44706141-44706142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28696375	chr21:44706186-44706187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369989418	chr21:44706211-44706212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12482274	chr21:44706239-44706240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374972018	chr21:44706452-44706453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150577374	chr21:44706580-44706581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28517626	chr21:44706665-44706666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139640408	chr21:44706714-44706715	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371363600	chr21:44706715-44706716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111781324	chr21:44706777-44706778	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374877032	chr21:44706833-44706834	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370164731	chr21:44706892-44706893	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368892603	chr21:44706906-44706907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200103272	chr21:44706912-44706913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149710326	chr21:44706935-44706936	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111987547	chr21:44706937-44706938	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373074776	chr21:44707141-44707142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1016263	chr21:44707262-44707263	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369266647	chr21:44707356-44707357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112872333	chr21:44707443-44707444	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113012817	chr21:44707511-44707512	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369605401	chr21:44707640-44707641	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2838245	chr21:44707758-44707759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs200477234	chr21:44707816-44707817	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10222159	chr21:44707818-44707819	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs743454	chr21:44707894-44707895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374975720	chr21:44707914-44707915	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs743455	chr21:44707965-44707966	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs743456	chr21:44708087-44708088	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs743457	chr21:44708090-44708091	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368713616	chr21:44708100-44708101	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368155010	chr21:44708130-44708131	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58847381	chr21:44708168-44708169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374176863	chr21:44708208-44708209	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62218902	chr21:44708234-44708235	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44696800-44709000	Weak transcription	Gastric	stomach
2	chr21:44698400-44707200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44699400-44707200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44701600-44706000	Weak transcription	Fetal Thymus	thymus
5	chr21:44701600-44706800	Weak transcription	A549	lung
6	chr21:44702400-44706200	Weak transcription	HepG2	liver
7	chr21:44702400-44707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:44703000-44708000	Weak transcription	Brain Germinal Matrix	brain
9	chr21:44705400-44706200	Enhancers	Dnd41	blood
10	chr21:44705800-44707200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44706000-44706200	Enhancers	Pancreas	Pancrea
12	chr21:44706000-44706400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:44706000-44708800	Enhancers	Fetal Thymus	thymus
14	chr21:44706200-44706400	Enhancers	HepG2	liver
15	chr21:44706200-44707200	Weak transcription	Pancreas	Pancrea
16	chr21:44706200-44707600	Flanking Active TSS	Dnd41	blood
17	chr21:44706200-44708200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:44706400-44706800	Weak transcription	HepG2	liver
19	chr21:44706400-44707800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:44706600-44707800	Enhancers	HSMM	muscle
21	chr21:44706800-44707400	Enhancers	Primary T cells from cord blood	blood
22	chr21:44706800-44707800	Enhancers	HepG2	liver
23	chr21:44706800-44708800	Enhancers	Adipose Nuclei	Adipose
24	chr21:44706800-44708800	Enhancers	A549	lung
25	chr21:44707000-44707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:44707000-44707400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:44707000-44707400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:44707000-44708000	Enhancers	Hela-S3	cervix
29	chr21:44707000-44708400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:44707000-44708600	Enhancers	Fetal Muscle Leg	muscle
31	chr21:44707000-44708800	Enhancers	HSMMtube	muscle
32	chr21:44707000-44709000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:44707000-44709000	Enhancers	Fetal Muscle Trunk	muscle
34	chr21:44707000-44709200	Enhancers	Fetal Intestine Large	intestine
35	chr21:44707200-44707400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr21:44707200-44707400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:44707200-44707400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr21:44707200-44707400	Enhancers	Thymus	Thymus
39	chr21:44707200-44707600	Enhancers	GM12878-XiMat	blood
40	chr21:44707200-44708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:44707200-44708200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr21:44707200-44708200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr21:44707200-44708800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:44707200-44708800	Enhancers	Placenta	Placenta
45	chr21:44707200-44709000	Enhancers	Fetal Intestine Small	intestine
46	chr21:44707200-44709600	Enhancers	Pancreas	Pancrea
47	chr21:44707200-44710000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:44707400-44707600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr21:44707400-44708800	Enhancers	Stomach Mucosa	stomach
50	chr21:44707400-44710000	Weak transcription	Thymus	Thymus

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