Variant report

Variant	nsv1043804
Chromosome Location	chr12:34426699-34559297
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
2	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
3	chr12:34275803..34276751-chr12:34446099..34446740,3	K562	blood:
4	chr12:34542219..34546005-chr12:34547286..34550175,4	K562	blood:
5	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
6	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
7	chr12:34497467..34501951-chr12:34506676..34509735,4	K562	blood:
8	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
9	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
10	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
11	chr12:34487742..34489883-chr12:34492282..34495193,2	K562	blood:
12	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
13	chr12:34501359..34504154-chr12:34510668..34513544,2	K562	blood:
14	chr12:34480099..34482680-chr12:34485043..34486658,2	K562	blood:
15	chr12:34275776..34276287-chr12:34445928..34446780,2	MCF-7	breast:
16	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
17	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:
18	chr12:34497610..34503522-chr12:34523490..34528831,5	K562	blood:
19	chr12:34427757..34428277-chr16:33958747..33959470,2	MCF-7	breast:
20	chr12:34497129..34499259-chr12:34508235..34509796,2	K562	blood:
21	chr12:34279057..34280887-chr12:34440053..34441876,2	K562	blood:
22	chr12:34472451..34474607-chr12:34482688..34484610,2	K562	blood:
23	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
24	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
25	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
26	chr12:34544160..34546005-chr12:34547460..34549884,2	K562	blood:
27	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
28	chr12:34513093..34516192-chr12:34527570..34530403,3	K562	blood:
29	chr12:34491491..34493706-chr12:34544208..34545803,2	K562	blood:
30	chr12:34500138..34502153-chr12:34504147..34506890,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-5	chr12:34430929-34431017	NONHSAT027661

No data

Extended variants
information (count: 9118 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9118 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539557928	chr12:34426709-34426710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185862278	chr12:34426754-34426755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140210526	chr12:34426760-34426761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535463280	chr12:34426781-34426782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554891560	chr12:34426818-34426819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574643490	chr12:34426828-34426829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs145628868	chr12:34426840-34426841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557205984	chr12:34426850-34426851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189719554	chr12:34426854-34426855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs10844851	chr12:34426879-34426880	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182335234	chr12:34426887-34426888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185522626	chr12:34426900-34426901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190432761	chr12:34426906-34426907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183410086	chr12:34426932-34426933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10772157	chr12:34426956-34426957	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111756184	chr12:34426982-34426983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188805598	chr12:34426992-34426993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550828620	chr12:34427001-34427002	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564358723	chr12:34427041-34427042	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560020882	chr12:34427077-34427078	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533325201	chr12:34427088-34427089	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546721461	chr12:34427111-34427112	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566619530	chr12:34427113-34427114	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535892258	chr12:34427114-34427115	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs193062777	chr12:34427125-34427126	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569195303	chr12:34427135-34427136	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536961464	chr12:34427165-34427166	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs59188346	chr12:34427180-34427181	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577139468	chr12:34427200-34427201	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200787016	chr12:34427231-34427232	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200955815	chr12:34427239-34427240	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76212098	chr12:34427243-34427244	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79074619	chr12:34427254-34427255	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552052386	chr12:34427264-34427265	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539628428	chr12:34427265-34427266	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555374760	chr12:34427271-34427272	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572144673	chr12:34427273-34427274	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386762047	chr12:34427275-34427276	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371908081	chr12:34427279-34427280	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368491594	chr12:34427281-34427282	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201565174	chr12:34427283-34427284	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371481544	chr12:34427299-34427300	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57703248	chr12:34427303-34427304	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114968853	chr12:34427339-34427340	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140573422	chr12:34427346-34427347	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144099197	chr12:34427348-34427349	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199557904	chr12:34427366-34427367	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146478484	chr12:34427380-34427381	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141149054	chr12:34427386-34427387	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73310584	chr12:34427422-34427423	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34415800-34431400	Weak transcription	Right Atrium	heart
2	chr12:34418200-34427200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:34418600-34427000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:34419200-34431400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr12:34426200-34427000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:34426200-34427200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:34426800-34431400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:34427000-34427200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr12:34427000-34427200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:34427000-34427200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:34427000-34427200	Bivalent/Poised TSS	Gastric	stomach
12	chr12:34427000-34427400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr12:34427000-34427400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:34427000-34427400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr12:34427000-34427400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:34427000-34427400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:34427000-34427400	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr12:34427000-34427600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:34427000-34428200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:34427200-34427400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr12:34427200-34427800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:34427200-34428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:34429200-34431200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr12:34429400-34431200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:34430400-34431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr12:34430600-34431200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr12:34434200-34440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr12:34438000-34439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:34438800-34446600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:34439000-34441400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr12:34439200-34439800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr12:34439400-34445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:34439400-34445400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:34440000-34446600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr12:34442200-34444000	Active TSS	K562	blood
36	chr12:34442400-34442800	Active TSS	A549	lung
37	chr12:34442800-34443200	Flanking Active TSS	A549	lung
38	chr12:34443200-34444200	Active TSS	A549	lung
39	chr12:34444000-34446000	Weak transcription	K562	blood
40	chr12:34446000-34446200	Flanking Active TSS	K562	blood
41	chr12:34446200-34446400	Enhancers	K562	blood
42	chr12:34446400-34446600	Flanking Active TSS	K562	blood
43	chr12:34447000-34448600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:34447600-34450600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr12:34448000-34462000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr12:34448400-34458800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:34449000-34449200	ZNF genes & repeats	Fetal Brain Female	brain
48	chr12:34449000-34449600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:34451600-34452000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:34451800-34453600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin

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