Variant report

Variant	esv3333012
Chromosome Location	chrX:79406439-79546111
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chrX:79449588..79452264-chrX:79453154..79454725,2	MCF-7	breast:
2	chrX:79519176..79521297-chrX:79525383..79527941,2	MCF-7	breast:
3	chrX:79486703..79489248-chrX:79490340..79493173,2	K562	blood:
4	chrX:79519176..79521297-chrX:79525383..79527941,2	MCF-7	breast:
5	chrX:79537779..79538289-chrX:79903212..79904194,2	K562	blood:
6	chrX:79486703..79489248-chrX:79490340..79493173,2	K562	blood:
7	chrX:79535698..79538408-chrX:79546607..79549205,2	K562	blood:
8	chrX:79449588..79452264-chrX:79453154..79454725,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRWD3-2	chrX:79538080-79538104	NONHSAT137720
2	lnc-BRWD3-2	chrX:79545351-79545399	NONHSAT137720
3	lnc-BRWD3-2	chrX:79528830-79528904	NONHSAT137720
4	lnc-BRWD3-2	chrX:79545164-79545268	NONHSAT137720

No data

Extended variants
information (count: 704 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371744122	chrX:79427942-79427943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181535404	chrX:79428410-79428411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs391997	chrX:79428426-79428427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79139501	chrX:79428483-79428484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12862282	chrX:79428487-79428488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186551823	chrX:79428523-79428524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190906090	chrX:79428621-79428622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12851036	chrX:79428642-79428643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568967773	chrX:79428652-79428653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12852701	chrX:79428672-79428673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12853715	chrX:79428674-79428675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200704679	chrX:79428695-79428696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201615989	chrX:79428708-79428709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200655793	chrX:79428718-79428719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182949171	chrX:79428740-79428741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374070760	chrX:79428755-79428756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7049943	chrX:79428771-79428772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72630833	chrX:79428942-79428943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187442015	chrX:79428990-79428991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191459728	chrX:79429009-79429010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140719220	chrX:79429051-79429052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144593518	chrX:79429346-79429347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371964064	chrX:79429517-79429518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183179949	chrX:79429684-79429685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201345868	chrX:79429734-79429735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60680602	chrX:79429736-79429737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398087782	chrX:79429739-79429740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397958989	chrX:79429740-79429741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187012233	chrX:79429789-79429790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192230546	chrX:79429831-79429832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375081483	chrX:79429888-79429889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184215962	chrX:79430057-79430058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs194952	chrX:79430095-79430096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4826017	chrX:79430214-79430215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35374887	chrX:79430223-79430224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4826018	chrX:79430253-79430254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193007549	chrX:79430355-79430356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373398780	chrX:79430415-79430416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184502092	chrX:79430498-79430499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376708884	chrX:79430528-79430529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189324866	chrX:79430583-79430584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs434955	chrX:79430616-79430617	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs441999	chrX:79430617-79430618	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373012702	chrX:79430721-79430722	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6621803	chrX:79430866-79430867	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534009551	chrX:79430918-79430919	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149747849	chrX:79431026-79431027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145592555	chrX:79431039-79431040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73630370	chrX:79431113-79431114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369082270	chrX:79431291-79431292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79427800-79430600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:79429600-79430800	Enhancers	Stomach Mucosa	stomach
3	chrX:79429600-79431800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chrX:79429800-79430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chrX:79430600-79431000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chrX:79430600-79431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chrX:79430800-79432000	Weak transcription	Stomach Mucosa	stomach
8	chrX:79431000-79431400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chrX:79431000-79431600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chrX:79435400-79436400	Weak transcription	Stomach Mucosa	stomach
11	chrX:79436400-79438400	Enhancers	Stomach Mucosa	stomach
12	chrX:79436800-79437000	Bivalent Enhancer	Ovary	ovary
13	chrX:79456400-79456800	Active TSS	K562	blood
14	chrX:79456800-79457600	Weak transcription	K562	blood
15	chrX:79457600-79458000	Active TSS	K562	blood
16	chrX:79458000-79462400	Weak transcription	K562	blood
17	chrX:79460600-79460800	Enhancers	Stomach Mucosa	stomach
18	chrX:79460800-79461800	Weak transcription	Stomach Mucosa	stomach
19	chrX:79461800-79462400	Enhancers	Stomach Mucosa	stomach
20	chrX:79462400-79462800	Enhancers	K562	blood
21	chrX:79468800-79469400	Enhancers	HMEC	breast
22	chrX:79469400-79469600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chrX:79471400-79472000	Enhancers	A549	lung
24	chrX:79471800-79472400	Enhancers	Hela-S3	cervix
25	chrX:79472000-79472200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chrX:79472000-79473400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chrX:79478600-79479600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chrX:79478600-79481000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chrX:79478800-79479000	Active TSS	Monocytes-CD14+_RO01746	blood
30	chrX:79479000-79479400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chrX:79479400-79480000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chrX:79479600-79480000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chrX:79480000-79480200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chrX:79480000-79480200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chrX:79480200-79480800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chrX:79480800-79481000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chrX:79485000-79485800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chrX:79486000-79487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chrX:79487200-79489600	Weak transcription	Fetal Intestine Small	intestine
40	chrX:79487600-79489200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chrX:79489200-79499400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chrX:79505400-79505800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chrX:79507200-79508000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chrX:79514000-79514800	Enhancers	Fetal Kidney	kidney
45	chrX:79515400-79515600	Enhancers	Fetal Kidney	kidney
46	chrX:79525200-79540600	Weak transcription	Fetal Intestine Small	intestine
47	chrX:79527400-79527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:79527400-79529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chrX:79527600-79536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:79536600-79537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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