Variant report

Variant	esv3450177
Chromosome Location	chrX:79392856-79464201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:79449588..79452264-chrX:79453154..79454725,2	MCF-7	breast:
2	chrX:79449588..79452264-chrX:79453154..79454725,2	MCF-7	breast:

Extended variants
information (count: 244 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34238982	chrX:79392906-79392907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189409529	chrX:79392955-79392956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12688422	chrX:79393166-79393167	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147273458	chrX:79393186-79393187	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148733064	chrX:79393283-79393284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142188890	chrX:79393385-79393386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5912401	chrX:79393815-79393816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112917383	chrX:79393827-79393828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7056200	chrX:79393866-79393867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181726297	chrX:79393889-79393890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374742624	chrX:79393989-79393990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372271514	chrX:79394064-79394065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34324349	chrX:79394081-79394082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72205540	chrX:79394163-79394164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541376601	chrX:79394181-79394182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185111146	chrX:79394189-79394190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2179111	chrX:79394195-79394196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189608237	chrX:79394234-79394235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541795	chrX:79394309-79394310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180839230	chrX:79394321-79394322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186661826	chrX:79394324-79394325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4615729	chrX:79394440-79394441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191106103	chrX:79394616-79394617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1927057	chrX:79394646-79394647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183744893	chrX:79394702-79394703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1927056	chrX:79394726-79394727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185994023	chrX:79394745-79394746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191054183	chrX:79394851-79394852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183254282	chrX:79394862-79394863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187860844	chrX:79395002-79395003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192811279	chrX:79395008-79395009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182486957	chrX:79395097-79395098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188402855	chrX:79395131-79395132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192606993	chrX:79395217-79395218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148849302	chrX:79395312-79395313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184344310	chrX:79395327-79395328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73630364	chrX:79395337-79395338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576620297	chrX:79395377-79395378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370552898	chrX:79395515-79395516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199961902	chrX:79395649-79395650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188776099	chrX:79395710-79395711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371744122	chrX:79427942-79427943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181535404	chrX:79428410-79428411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs391997	chrX:79428426-79428427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79139501	chrX:79428483-79428484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12862282	chrX:79428487-79428488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186551823	chrX:79428523-79428524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190906090	chrX:79428621-79428622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12851036	chrX:79428642-79428643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568967773	chrX:79428652-79428653	Enhancers	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79392400-79393000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chrX:79392600-79393200	Enhancers	H1 Cell Line	embryonic stem cell
3	chrX:79393000-79393200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chrX:79393200-79393400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chrX:79393400-79395000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chrX:79395000-79395600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:79395000-79395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:79427800-79430600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:79429600-79430800	Enhancers	Stomach Mucosa	stomach
10	chrX:79429600-79431800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chrX:79429800-79430600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chrX:79430600-79431000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chrX:79430600-79431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:79430800-79432000	Weak transcription	Stomach Mucosa	stomach
15	chrX:79431000-79431400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:79431000-79431600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chrX:79435400-79436400	Weak transcription	Stomach Mucosa	stomach
18	chrX:79436400-79438400	Enhancers	Stomach Mucosa	stomach
19	chrX:79436800-79437000	Bivalent Enhancer	Ovary	ovary
20	chrX:79456400-79456800	Active TSS	K562	blood
21	chrX:79456800-79457600	Weak transcription	K562	blood
22	chrX:79457600-79458000	Active TSS	K562	blood
23	chrX:79458000-79462400	Weak transcription	K562	blood
24	chrX:79460600-79460800	Enhancers	Stomach Mucosa	stomach
25	chrX:79460800-79461800	Weak transcription	Stomach Mucosa	stomach
26	chrX:79461800-79462400	Enhancers	Stomach Mucosa	stomach
27	chrX:79462400-79462800	Enhancers	K562	blood

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