Variant report

Variant	nsv481716
Chromosome Location	chrX:31649484-31789177
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:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
2	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
3	chr22:21979310..21981506-chrX:31657956..31659478,2	K562	blood:
4	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
5	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
6	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
7	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
8	chrX:30954183..30954687-chrX:31676252..31677226,2	MCF-7	breast:
9	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
10	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
11	chrX:31056385..31057531-chrX:31676225..31677578,5	MCF-7	breast:
12	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
13	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
14	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
15	chrX:31640339..31643305-chrX:31652840..31655253,2	K562	blood:
16	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
17	chr21:9824692..9827129-chrX:31658009..31660080,2	MCF-7	breast:
18	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106638	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 920 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190692799	chrX:31649527-31649528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183699939	chrX:31649532-31649533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188620560	chrX:31649557-31649558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141291050	chrX:31649604-31649605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551199534	chrX:31649746-31649747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569747436	chrX:31649992-31649993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145071029	chrX:31650050-31650051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193270099	chrX:31650402-31650403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111566505	chrX:31650446-31650447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138799080	chrX:31650573-31650574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140518268	chrX:31650650-31650651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542492570	chrX:31650894-31650895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377642436	chrX:31650909-31650910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62587326	chrX:31650933-31650934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184204156	chrX:31651016-31651017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138084990	chrX:31651028-31651029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149546605	chrX:31651373-31651374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371556772	chrX:31651405-31651406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144021745	chrX:31651691-31651692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138855253	chrX:31652101-31652102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377225266	chrX:31652184-31652185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142736352	chrX:31652247-31652248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186904037	chrX:31652318-31652319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66946306	chrX:31656822-31656823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189344210	chrX:31656870-31656871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113592598	chrX:31656933-31656934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140870886	chrX:31657040-31657041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112870072	chrX:31657042-31657043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138791679	chrX:31657054-31657055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142809992	chrX:31657219-31657220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368211876	chrX:31657311-31657312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180708091	chrX:31657372-31657373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552756152	chrX:31657509-31657510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185143643	chrX:31657646-31657647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146944938	chrX:31657649-31657650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370818408	chrX:31657704-31657705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189462931	chrX:31657759-31657760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374751412	chrX:31657764-31657765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181515939	chrX:31657914-31657915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5972424	chrX:31657960-31657961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149494811	chrX:31657998-31657999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371578162	chrX:31658001-31658002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186687839	chrX:31658017-31658018	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs73617090	chrX:31658168-31658169	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192046331	chrX:31658329-31658330	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148619535	chrX:31658346-31658347	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376530010	chrX:31658393-31658394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183356138	chrX:31658412-31658413	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141990674	chrX:31658485-31658486	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186289629	chrX:31658551-31658552	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31646000-31650000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chrX:31647400-31651600	Enhancers	Fetal Intestine Small	intestine
3	chrX:31647600-31649600	Enhancers	Fetal Brain Male	brain
4	chrX:31647600-31649800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chrX:31648000-31650200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chrX:31648200-31650000	Weak transcription	Duodenum Mucosa	Duodenum
7	chrX:31648600-31649600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chrX:31649400-31649600	Enhancers	Brain Angular Gyrus	brain
9	chrX:31649400-31652400	Enhancers	Fetal Intestine Large	intestine
10	chrX:31649600-31649800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chrX:31649600-31652000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chrX:31650000-31650200	Enhancers	Duodenum Mucosa	Duodenum
13	chrX:31650000-31651400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chrX:31650200-31650600	Weak transcription	Duodenum Mucosa	Duodenum
15	chrX:31650600-31651000	Enhancers	Duodenum Mucosa	Duodenum
16	chrX:31651000-31651400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chrX:31656800-31658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:31660400-31661200	Enhancers	HUVEC	blood vessel
19	chrX:31670600-31671200	Enhancers	Fetal Intestine Large	intestine
20	chrX:31670800-31671400	Enhancers	Liver	Liver
21	chrX:31671000-31671400	Enhancers	Fetal Intestine Small	intestine
22	chrX:31673000-31679600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chrX:31674000-31674400	Enhancers	Hela-S3	cervix
24	chrX:31674400-31676200	Weak transcription	Hela-S3	cervix
25	chrX:31676200-31676400	Enhancers	Hela-S3	cervix
26	chrX:31678200-31679800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chrX:31678400-31679800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chrX:31679400-31680000	Enhancers	Fetal Heart	heart
29	chrX:31679600-31679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chrX:31679600-31679800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chrX:31679800-31680000	Bivalent Enhancer	Fetal Brain Male	brain
32	chrX:31679800-31681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chrX:31680800-31681400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chrX:31681000-31681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chrX:31681400-31682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chrX:31682200-31682600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chrX:31682200-31683200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chrX:31682800-31683000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chrX:31682800-31683200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chrX:31688000-31689000	Enhancers	HUVEC	blood vessel
41	chrX:31689600-31690600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:31690600-31692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chrX:31692200-31693000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chrX:31692200-31693400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chrX:31692200-31693400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chrX:31692400-31693000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chrX:31698200-31698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:31720200-31720800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chrX:31720200-31720800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chrX:31724800-31726800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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