Variant report

Variant	esv3431028
Chromosome Location	chrX:76731396-76822344
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:76761448..76764250-chrX:76766493..76768451,2	MCF-7	breast:
2	chrX:76800591..76802545-chrX:76807334..76809410,2	MCF-7	breast:
3	chrX:76761448..76764250-chrX:76766493..76768451,2	MCF-7	breast:
4	chrX:76749546..76752499-chrX:76758608..76760224,2	K562	blood:
5	chrX:76816472..76818842-chrX:76826313..76828243,2	K562	blood:
6	chrX:76777436..76779959-chrX:76781784..76783298,2	K562	blood:
7	chrX:76777436..76779959-chrX:76781784..76783298,2	K562	blood:
8	chrX:76777436..76780005-chrX:76781673..76783298,3	K562	blood:
9	chrX:76749546..76752499-chrX:76758608..76760224,2	K562	blood:
10	chrX:76800591..76802545-chrX:76807334..76809410,2	MCF-7	breast:
11	chrX:76777436..76780005-chrX:76781673..76783298,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATRX	hsa-miR-30a-5p	chrX:76762578-76762600

Extended variants
information (count: 861 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7066219	chrX:76747724-76747725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6650020	chrX:76747742-76747743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547627257	chrX:76747836-76747837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182458735	chrX:76747849-76747850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7060332	chrX:76747968-76747969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146667047	chrX:76748037-76748038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140267882	chrX:76748057-76748058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142585508	chrX:76748200-76748201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187141052	chrX:76748257-76748258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192000655	chrX:76748364-76748365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367820474	chrX:76748491-76748492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559686961	chrX:76748679-76748680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181503788	chrX:76748898-76748899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151299565	chrX:76748908-76748909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372096209	chrX:76748960-76748961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375034980	chrX:76749027-76749028	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185696766	chrX:76749045-76749046	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369323512	chrX:76749157-76749158	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190107417	chrX:76749327-76749328	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182424434	chrX:76749404-76749405	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs186145853	chrX:76749405-76749406	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs190716180	chrX:76749777-76749778	Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs184160882	chrX:76749886-76749887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs188757064	chrX:76749916-76749917	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs140567076	chrX:76749932-76749933	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs12846350	chrX:76750035-76750036	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs193196452	chrX:76750066-76750067	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs183070554	chrX:76750171-76750172	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs528784571	chrX:76750316-76750317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187368483	chrX:76750387-76750388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150479462	chrX:76750410-76750411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566397434	chrX:76750591-76750592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191854434	chrX:76750599-76750600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540103880	chrX:76750657-76750658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184041806	chrX:76750836-76750837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138520646	chrX:76750840-76750841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35013407	chrX:76750895-76750896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571896819	chrX:76750976-76750977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189604042	chrX:76750994-76750995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373148753	chrX:76751020-76751021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192242319	chrX:76751156-76751157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142656052	chrX:76751331-76751332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368945762	chrX:76751348-76751349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538900860	chrX:76751519-76751520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552086974	chrX:76751679-76751680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570112440	chrX:76751689-76751690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6655876	chrX:76751760-76751761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6655875	chrX:76751782-76751783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6655874	chrX:76751785-76751786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185881939	chrX:76752071-76752072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Breast cancer	21611746	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Alcoholism	21790672	CNVD
Mental retardation	22129561	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:76747600-76749000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chrX:76748600-76748800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chrX:76748600-76749000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chrX:76748600-76749000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chrX:76749000-76749200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chrX:76749000-76749200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chrX:76749000-76749200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chrX:76749000-76749800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chrX:76749200-76749400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chrX:76749200-76749400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chrX:76749200-76749800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chrX:76749200-76750000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chrX:76749200-76750400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chrX:76749400-76749600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chrX:76749400-76749600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chrX:76749400-76749800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chrX:76749400-76750000	Enhancers	NH-A	brain
18	chrX:76749400-76750200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chrX:76749400-76750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chrX:76749400-76750200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chrX:76749400-76750200	Enhancers	Fetal Muscle Leg	muscle
22	chrX:76749400-76750200	Bivalent Enhancer	Placenta	Placenta
23	chrX:76749400-76750200	Enhancers	Hela-S3	cervix
24	chrX:76749400-76750200	Enhancers	HSMMtube	muscle
25	chrX:76749400-76750400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chrX:76749400-76750400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chrX:76749600-76749800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chrX:76749600-76750000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chrX:76749600-76750000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chrX:76749600-76750000	Enhancers	Spleen	Spleen
31	chrX:76749600-76750200	Enhancers	H1 Cell Line	embryonic stem cell
32	chrX:76749800-76750000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chrX:76749800-76750200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chrX:76750000-76750200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chrX:76750000-76750200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chrX:76750200-76750400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chrX:76750200-76757000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chrX:76750200-76757600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chrX:76756400-76756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chrX:76756400-76756600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chrX:76756400-76756600	Enhancers	Stomach Mucosa	stomach
42	chrX:76756400-76779200	Weak transcription	NH-A	brain
43	chrX:76756600-76756800	Enhancers	Primary B cells from peripheral blood	blood
44	chrX:76756600-76756800	Enhancers	Aorta	Aorta
45	chrX:76756600-76757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chrX:76756600-76757600	Weak transcription	Stomach Mucosa	stomach
47	chrX:76756600-76763600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chrX:76756600-76845600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chrX:76756800-76757000	Enhancers	Left Ventricle	heart
50	chrX:76756800-76757600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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