Variant report

Variant	nsv481724
Chromosome Location	chrX:31680008-31837351
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
2	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
3	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
4	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
5	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
6	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
7	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
8	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
9	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
10	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
11	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
12	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
13	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
14	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
15	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
16	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
17	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
18	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106638	chromatin interactions

Extended variants
information (count: 1239 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1239 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139854053	chrX:31680129-31680130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73455980	chrX:31680178-31680179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184504180	chrX:31680184-31680185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189469195	chrX:31680321-31680322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181376963	chrX:31680328-31680329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142131640	chrX:31680422-31680423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151133719	chrX:31680472-31680473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370591022	chrX:31680522-31680523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76548759	chrX:31680586-31680587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34542798	chrX:31680765-31680766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398101938	chrX:31680766-31680767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184481846	chrX:31680900-31680901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189235288	chrX:31680939-31680940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150258456	chrX:31680947-31680948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531836193	chrX:31681119-31681120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147958845	chrX:31681238-31681239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574598505	chrX:31681325-31681326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141897803	chrX:31681351-31681352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5927793	chrX:31681370-31681371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373938567	chrX:31681406-31681407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181917870	chrX:31681443-31681444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186992122	chrX:31681567-31681568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371733699	chrX:31681631-31681632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192331580	chrX:31681814-31681815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180735885	chrX:31681953-31681954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186170422	chrX:31681971-31681972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6631360	chrX:31681972-31681973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143896817	chrX:31682160-31682161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371000753	chrX:31682191-31682192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190016059	chrX:31682237-31682238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375428678	chrX:31682267-31682268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60363526	chrX:31682355-31682356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369202473	chrX:31682510-31682511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182648547	chrX:31682544-31682545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187325647	chrX:31682566-31682567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190678033	chrX:31682631-31682632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201944079	chrX:31682647-31682648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57706460	chrX:31682664-31682665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200347714	chrX:31682666-31682667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16998209	chrX:31682729-31682730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73214029	chrX:31682777-31682778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367777523	chrX:31682782-31682783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386416853	chrX:31682799-31682800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61231046	chrX:31682800-31682801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563805160	chrX:31682837-31682838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141420411	chrX:31682847-31682848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375524023	chrX:31683015-31683016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193082070	chrX:31688004-31688005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145627324	chrX:31688174-31688175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5927798	chrX:31688198-31688199	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	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
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31679800-31681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chrX:31680800-31681400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chrX:31681000-31681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chrX:31681400-31682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chrX:31682200-31682600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chrX:31682200-31683200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:31682800-31683000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chrX:31682800-31683200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:31688000-31689000	Enhancers	HUVEC	blood vessel
10	chrX:31689600-31690600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:31690600-31692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrX:31692200-31693000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chrX:31692200-31693400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chrX:31692200-31693400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:31692400-31693000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chrX:31698200-31698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chrX:31720200-31720800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chrX:31720200-31720800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chrX:31724800-31726800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chrX:31725000-31725600	Enhancers	Fetal Heart	heart
21	chrX:31725200-31725800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chrX:31725200-31726200	Enhancers	Muscle Satellite Cultured Cells	--
23	chrX:31726000-31726600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chrX:31733800-31734400	ZNF genes & repeats	Liver	Liver
25	chrX:31734400-31754400	Weak transcription	Liver	Liver
26	chrX:31735400-31736400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chrX:31735400-31736600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chrX:31736400-31737400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chrX:31736600-31736800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chrX:31736600-31749800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chrX:31739000-31747000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:31741600-31742200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chrX:31745200-31747000	Weak transcription	Stomach Smooth Muscle	stomach
34	chrX:31745200-31748600	Weak transcription	K562	blood
35	chrX:31745600-31745800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chrX:31745800-31748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chrX:31746200-31748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chrX:31746200-31748800	Weak transcription	Aorta	Aorta
39	chrX:31747000-31747600	Strong transcription	Stomach Smooth Muscle	stomach
40	chrX:31747000-31747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chrX:31747600-31749200	Weak transcription	Stomach Smooth Muscle	stomach
42	chrX:31747800-31749400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chrX:31749800-31750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chrX:31754200-31754600	Enhancers	Hela-S3	cervix
45	chrX:31754400-31754600	Enhancers	Liver	Liver
46	chrX:31763200-31763400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chrX:31765000-31765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chrX:31765200-31765800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chrX:31765400-31766400	Enhancers	Fetal Brain Male	brain
50	chrX:31765400-31767000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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