Variant report

Variant	esv2758580
Chromosome Location	chrX:104303006-104415037
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:104381527..104384030-chrX:104399783..104402502,2	MCF-7	breast:
2	chrX:104331567..104334480-chrX:104412138..104414483,2	MCF-7	breast:
3	chrX:104309157..104311658-chrX:104313108..104315856,2	K562	blood:
4	chr1:171635591..171636506-chrX:104332383..104332975,2	MCF-7	breast:
5	chr17:41398721..41401059-chrX:104396318..104397818,2	K562	blood:
6	chrX:104309157..104311658-chrX:104313108..104315856,2	K562	blood:
7	chr6:151987140..151989927-chrX:104313267..104315626,2	MCF-7	breast:
8	chrX:104331567..104334480-chrX:104412138..104414483,2	MCF-7	breast:
9	chrX:104381527..104384030-chrX:104399783..104402502,2	MCF-7	breast:

No data

Extended variants
information (count: 142 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144904740	chrX:104308424-104308425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188584787	chrX:104308492-104308493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374354904	chrX:104308517-104308518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149024055	chrX:104308636-104308637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181421104	chrX:104308779-104308780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143018338	chrX:104308787-104308788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146662110	chrX:104354504-104354505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191002903	chrX:104354556-104354557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139762517	chrX:104354574-104354575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181953723	chrX:104354599-104354600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185127334	chrX:104354626-104354627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113372770	chrX:104354675-104354676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189946944	chrX:104354776-104354777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151094603	chrX:104354807-104354808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73527993	chrX:104354920-104354921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150240312	chrX:104355203-104355204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375942364	chrX:104364234-104364235	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs182427948	chrX:104364252-104364253	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs201723817	chrX:104364301-104364302	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs200350882	chrX:104364306-104364307	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs72616887	chrX:104364312-104364313	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs560138287	chrX:104366036-104366037	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs185257031	chrX:104366038-104366039	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375830166	chrX:104366060-104366061	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs137963104	chrX:104366159-104366160	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs186383660	chrX:104376261-104376262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191137032	chrX:104376324-104376325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138934934	chrX:104376340-104376341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180877860	chrX:104376366-104376367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114171268	chrX:104376389-104376390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186110782	chrX:104376454-104376455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191261483	chrX:104376540-104376541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116332636	chrX:104376546-104376547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144782266	chrX:104376600-104376601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs207478707	chrX:104376605-104376606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5916869	chrX:104376962-104376963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190561934	chrX:104377081-104377082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148537175	chrX:104377098-104377099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2009995	chrX:104377178-104377179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4644396	chrX:104377301-104377302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528438580	chrX:104377354-104377355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545092612	chrX:104377414-104377415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183008970	chrX:104377432-104377433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187683947	chrX:104377433-104377434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74449825	chrX:104377457-104377458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193151847	chrX:104377510-104377511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564369264	chrX:104377642-104377643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533089488	chrX:104377741-104377742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182817811	chrX:104377753-104377754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5916725	chrX:104377812-104377813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:46)

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
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
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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104308400-104308800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chrX:104354400-104355200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chrX:104354600-104355200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chrX:104354600-104355200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chrX:104354800-104355400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chrX:104364200-104364400	Bivalent Enhancer	Fetal Kidney	kidney
7	chrX:104366000-104366200	Bivalent Enhancer	Fetal Kidney	kidney
8	chrX:104376200-104376800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chrX:104376200-104377000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chrX:104376400-104377200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chrX:104376400-104377400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chrX:104377400-104378400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chrX:104378400-104378600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chrX:104380600-104382200	Enhancers	HMEC	breast
15	chrX:104381400-104382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chrX:104394800-104395000	Bivalent Enhancer	Fetal Kidney	kidney
17	chrX:104394800-104395200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:104398000-104398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chrX:104398000-104399200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chrX:104398200-104398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chrX:104398200-104399600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:104398400-104399000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chrX:104398400-104399200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chrX:104398800-104399200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chrX:104399000-104399200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
26	chrX:104399200-104399400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chrX:104399200-104400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chrX:104399400-104400800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chrX:104400400-104400600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chrX:104400800-104401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chrX:104401000-104401200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chrX:104412600-104413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chrX:104412600-104413600	Enhancers	HMEC	breast
34	chrX:104412800-104413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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