Variant report

Variant	esv3435733
Chromosome Location	chrX:31293831-31349629
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:31055216..31055947-chrX:31311393..31312206,2	MCF-7	breast:
2	chrX:31311122..31313355-chrX:31314263..31316652,2	K562	blood:
3	chrX:31231843..31232710-chrX:31311329..31312068,2	MCF-7	breast:
4	chrX:31311122..31313355-chrX:31314263..31316652,2	K562	blood:
5	chrX:31316037..31318700-chrX:31321039..31322657,2	K562	blood:
6	chrX:31316037..31318700-chrX:31321039..31322657,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GK-4	chrX:31341715-31341747	ENSG00000242286.1

No data

Extended variants
information (count: 731 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:731 , 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	rs373121387	chrX:31293862-31293863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189732669	chrX:31293967-31293968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182305235	chrX:31294040-31294041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187020985	chrX:31294066-31294067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192995745	chrX:31294077-31294078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561249881	chrX:31294095-31294096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141297639	chrX:31294157-31294158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4409539	chrX:31294248-31294249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541209669	chrX:31294335-31294336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368528572	chrX:31294350-31294351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4294332	chrX:31294383-31294384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183422114	chrX:31294426-31294427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147635989	chrX:31294431-31294432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141995978	chrX:31294455-31294456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370327707	chrX:31294464-31294465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374276250	chrX:31294507-31294508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563545385	chrX:31294533-31294534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188773910	chrX:31294535-31294536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5972363	chrX:31294762-31294763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72625569	chrX:31294957-31294958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73617067	chrX:31295199-31295200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114478399	chrX:31295239-31295240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566924073	chrX:31295472-31295473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193075919	chrX:31295504-31295505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184586305	chrX:31295569-31295570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7057271	chrX:31295606-31295607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189417483	chrX:31295665-31295666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191107169	chrX:31295731-31295732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35457496	chrX:31295753-31295754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147899024	chrX:31296144-31296145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66834124	chrX:31296145-31296146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55992359	chrX:31296146-31296147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34835188	chrX:31296148-31296149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183756190	chrX:31296250-31296251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200132484	chrX:31296260-31296261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142116016	chrX:31296280-31296281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534439923	chrX:31296360-31296361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1921391	chrX:31296395-31296396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565852070	chrX:31296429-31296430	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552784316	chrX:31296529-31296530	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189550675	chrX:31296603-31296604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181495500	chrX:31296806-31296807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11798655	chrX:31296846-31296847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141863109	chrX:31296857-31296858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186677812	chrX:31297225-31297226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138661080	chrX:31297340-31297341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190103370	chrX:31297646-31297647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150615101	chrX:31297647-31297648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139671089	chrX:31297888-31297889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557985302	chrX:31297901-31297902	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	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
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31285000-31297400	Weak transcription	HSMMtube	muscle
2	chrX:31296400-31296600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chrX:31297400-31297800	Enhancers	HSMM	muscle
4	chrX:31297400-31298200	Enhancers	HSMMtube	muscle
5	chrX:31299400-31300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chrX:31305400-31306800	Enhancers	Fetal Heart	heart
7	chrX:31306000-31306600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chrX:31306000-31306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:31306200-31307000	Enhancers	Liver	Liver
10	chrX:31306800-31314200	Weak transcription	Fetal Heart	heart
11	chrX:31307000-31309000	Weak transcription	Liver	Liver
12	chrX:31308600-31308800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chrX:31308800-31309200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chrX:31309000-31309200	Enhancers	Liver	Liver
15	chrX:31309000-31309400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chrX:31309000-31309800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:31309400-31310000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:31309800-31316800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chrX:31312600-31313000	Enhancers	K562	blood
20	chrX:31315200-31317000	Enhancers	HMEC	breast
21	chrX:31315600-31316600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chrX:31315600-31317400	Enhancers	NHEK	skin
23	chrX:31315800-31316200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chrX:31315800-31316200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chrX:31316000-31316600	Enhancers	Fetal Brain Male	brain
26	chrX:31316000-31317200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chrX:31316800-31317400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chrX:31316800-31317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chrX:31316800-31317600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chrX:31317000-31317600	Enhancers	Liver	Liver
31	chrX:31317200-31317600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chrX:31317400-31319800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chrX:31317600-31318000	Weak transcription	Liver	Liver
34	chrX:31317600-31319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chrX:31318000-31318600	Enhancers	Liver	Liver
36	chrX:31318600-31319800	Weak transcription	Liver	Liver
37	chrX:31318800-31319200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chrX:31319600-31320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chrX:31319800-31320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chrX:31319800-31320200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chrX:31319800-31320200	Enhancers	Liver	Liver
42	chrX:31320000-31320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chrX:31320000-31321000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chrX:31320200-31320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chrX:31320200-31320400	Flanking Active TSS	Liver	Liver
46	chrX:31320200-31321400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chrX:31320200-31323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chrX:31320400-31320600	Enhancers	Liver	Liver
49	chrX:31320400-31321400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chrX:31320400-31321400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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