Variant report

Variant	nsv817363
Chromosome Location	chrX:31631154-31864893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:527)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:31676512-31676712	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:31655046-31655134	K562	blood:	n/a	n/a
3	ARID3A	chrX:31825327-31825587	HepG2	liver:	n/a	n/a
4	ARID3A	chrX:31840662-31840756	K562	blood:	n/a	n/a
5	ATF1	chrX:31856622-31856958	K562	blood:	n/a	n/a
6	ATF1	chrX:31720398-31720650	K562	blood:	n/a	n/a
7	ATF1	chrX:31854667-31854914	K562	blood:	n/a	n/a
8	BACH1	chrX:31783135-31783137	K562	blood:	n/a	n/a
9	BCL3	chrX:31737849-31738258	GM12878	blood:	n/a	n/a
10	BCL3	chrX:31737905-31738230	GM12878	blood:	n/a	n/a
11	BCL3	chrX:31766561-31766945	GM12878	blood:	n/a	n/a
12	BCL3	chrX:31766645-31766852	GM12878	blood:	n/a	n/a
13	BHLHE40	chrX:31795023-31795206	K562	blood:	n/a	n/a
14	BRCA1	chrX:31716811-31716827	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chrX:31773913-31774042	HepG2	liver:	n/a	chrX:31773955-31773966 chrX:31773957-31773968
16	CEBPB	chrX:31688352-31688552	IMR90	lung:	n/a	chrX:31688510-31688521
17	CEBPB	chrX:31745355-31745547	A549	lung:	n/a	n/a
18	CEBPB	chrX:31763086-31763279	A549	lung:	n/a	n/a
19	CEBPB	chrX:31660505-31660807	IMR90	lung:	n/a	n/a
20	CEBPB	chrX:31778692-31778796	HepG2	liver:	n/a	n/a
21	CEBPB	chrX:31720394-31720668	IMR90	lung:	n/a	n/a
22	CEBPB	chrX:31676339-31676606	K562	blood:	n/a	n/a
23	CEBPB	chrX:31739446-31739711	H1-hESC	embryonic stem cell:	n/a	chrX:31739596-31739607
24	CEBPB	chrX:31739555-31739659	Hela-S3	cervix:	n/a	chrX:31739596-31739607
25	CEBPB	chrX:31826556-31826776	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chrX:31676300-31676599	IMR90	lung:	n/a	n/a
27	CEBPB	chrX:31688381-31688643	HepG2	liver:	n/a	chrX:31688510-31688521
28	CEBPB	chrX:31854765-31854950	K562	blood:	n/a	chrX:31854795-31854812
29	CEBPB	chrX:31739458-31739663	IMR90	lung:	n/a	chrX:31739596-31739607
30	CEBPB	chrX:31839455-31839711	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chrX:31826634-31826676	K562	blood:	n/a	n/a
32	CEBPB	chrX:31739488-31739744	HepG2	liver:	n/a	chrX:31739596-31739607
33	CEBPB	chrX:31839449-31839744	K562	blood:	n/a	n/a
34	CEBPB	chrX:31739551-31739655	A549	lung:	n/a	chrX:31739596-31739607
35	CEBPB	chrX:31644631-31644823	HepG2	liver:	n/a	n/a
36	CTCF	chrX:31676508-31676905	K562	blood:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
37	CTCF	chrX:31734534-31734553	GM10248	blood:	n/a	n/a
38	CTCF	chrX:31776109-31776141	Lung_OC	lung:	n/a	n/a
39	CTCF	chrX:31676560-31676710	BJ	skin:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
40	CTCF	chrX:31676600-31676750	K562	blood:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
41	CTCF	chrX:31761119-31761173	GM13976	blood:	n/a	n/a
42	CTCF	chrX:31676640-31676790	HCPEpiC	choroid plexus:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
43	CTCF	chrX:31781547-31781675	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chrX:31793852-31793869	GM10248	blood:	n/a	n/a
45	CTCF	chrX:31676570-31676806	MCF-7	breast:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
46	CTCF	chrX:31688580-31688730	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chrX:31636720-31636784	LNCaP	prostate:	n/a	n/a
48	CTCF	chrX:31676600-31676750	HBMEC	blood vessel:	n/a	chrX:31676677-31676695 chrX:31676672-31676693 chrX:31676678-31676694
49	CTCF	chrX:31750125-31750143	GM10266	blood:	n/a	n/a
50	CTCF	chrX:31697081-31697130	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:21979310..21981506-chrX:31657956..31659478,2	K562	blood:
2	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
3	chrX:31849555..31852205-chrX:31866739..31868743,2	K562	blood:
4	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
5	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
6	chrX:31846736..31849689-chrX:31851521..31853181,2	K562	blood:
7	chrX:31860758..31862494-chrX:31865169..31867353,2	K562	blood:
8	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
9	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
10	chr21:9824692..9827129-chrX:31658009..31660080,2	MCF-7	breast:
11	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
12	chrX:31634777..31637402-chrX:31639574..31641177,2	K562	blood:
13	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
14	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
15	chrX:31640339..31643305-chrX:31652840..31655253,2	K562	blood:
16	chrX:31853042..31856013-chrX:31864412..31867304,2	K562	blood:
17	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
18	chrX:31056385..31057531-chrX:31676225..31677578,5	MCF-7	breast:
19	chrX:31856957..31858886-chrX:31860711..31862555,2	K562	blood:
20	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
21	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
22	chrX:31856957..31858886-chrX:31860711..31862555,2	K562	blood:
23	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
24	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
25	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
26	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
27	chrX:31640339..31643305-chrX:31652840..31655253,2	K562	blood:
28	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
29	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
30	chrX:30954183..30954687-chrX:31676252..31677226,2	MCF-7	breast:
31	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
32	chrX:31634777..31637402-chrX:31639574..31641177,2	K562	blood:
33	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
34	chrX:31846736..31849689-chrX:31851521..31853181,2	K562	blood:

No data

Variant related genes	Relation type
DMD	TF binding region
ENSG00000264063	chromatin interactions
ENSG00000198947	chromatin interactions
ENSG00000106638	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 1959 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193103376	chrX:31631155-31631156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147259076	chrX:31631419-31631420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139137599	chrX:31631447-31631448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183651592	chrX:31631548-31631549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5972418	chrX:31631600-31631601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150820515	chrX:31631601-31631602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186914473	chrX:31631789-31631790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191694081	chrX:31631819-31631820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16989720	chrX:31632033-31632034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7066656	chrX:31632103-31632104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs62587324	chrX:31632216-31632217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184331114	chrX:31632237-31632238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189942596	chrX:31632346-31632347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181630582	chrX:31632655-31632656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185180044	chrX:31632693-31632694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536516253	chrX:31632790-31632791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190521474	chrX:31632939-31632940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181922238	chrX:31633103-31633104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5972419	chrX:31633233-31633234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369673483	chrX:31633242-31633243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185020708	chrX:31633311-31633312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375071029	chrX:31633433-31633434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377605441	chrX:31633589-31633590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5927780	chrX:31633687-31633688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189828071	chrX:31633695-31633696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67371443	chrX:31633710-31633711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5927781	chrX:31633734-31633735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181195112	chrX:31633802-31633803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142583360	chrX:31633918-31633919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554598573	chrX:31634040-31634041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs716354	chrX:31634092-31634093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372660690	chrX:31634103-31634104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138831929	chrX:31644678-31644679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372908953	chrX:31644749-31644750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183241957	chrX:31644785-31644786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187827086	chrX:31644912-31644913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190126027	chrX:31644985-31644986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182793901	chrX:31645314-31645315	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs141831161	chrX:31645426-31645427	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187440299	chrX:31645522-31645523	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192398150	chrX:31645749-31645750	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369216772	chrX:31645764-31645765	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372600090	chrX:31645795-31645796	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375657730	chrX:31645849-31645850	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs398124062	chrX:31645921-31645922	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144518527	chrX:31645931-31645932	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs398124061	chrX:31645938-31645939	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs398124060	chrX:31645942-31645943	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1801189	chrX:31645952-31645953	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369956942	chrX:31646015-31646016	Enhancers Active TSS Weak transcription	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:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31628000-31633600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:31630000-31632400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chrX:31630200-31631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chrX:31632400-31632800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:31633600-31634200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:31644600-31645400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chrX:31645200-31646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:31645200-31646200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chrX:31645400-31645800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:31645400-31646000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chrX:31645400-31646000	Enhancers	Muscle Satellite Cultured Cells	--
12	chrX:31645600-31646000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:31645600-31646000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chrX:31645800-31646000	Enhancers	Colon Smooth Muscle	Colon
15	chrX:31645800-31646200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:31645800-31646200	Active TSS	Brain Anterior Caudate	brain
17	chrX:31646000-31650000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chrX:31646200-31647400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chrX:31646200-31647600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chrX:31646200-31648200	Weak transcription	Brain Anterior Caudate	brain
21	chrX:31646400-31647800	Weak transcription	Colon Smooth Muscle	Colon
22	chrX:31646400-31648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chrX:31646800-31647000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chrX:31647000-31648000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chrX:31647200-31647400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chrX:31647400-31647600	Enhancers	Stomach Smooth Muscle	stomach
27	chrX:31647400-31648000	Enhancers	Brain Angular Gyrus	brain
28	chrX:31647400-31648000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chrX:31647400-31648200	Enhancers	Duodenum Mucosa	Duodenum
30	chrX:31647400-31649400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chrX:31647400-31651600	Enhancers	Fetal Intestine Small	intestine
32	chrX:31647600-31647800	Bivalent Enhancer	Fetal Kidney	kidney
33	chrX:31647600-31648000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chrX:31647600-31649600	Enhancers	Fetal Brain Male	brain
35	chrX:31647600-31649800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chrX:31647800-31648000	Enhancers	Fetal Intestine Large	intestine
37	chrX:31647800-31648400	Enhancers	Colon Smooth Muscle	Colon
38	chrX:31648000-31648200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chrX:31648000-31648400	Bivalent Enhancer	Fetal Kidney	kidney
40	chrX:31648000-31648400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chrX:31648000-31649000	Weak transcription	Brain Angular Gyrus	brain
42	chrX:31648000-31650200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chrX:31648200-31648400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chrX:31648200-31649000	Enhancers	Brain Anterior Caudate	brain
45	chrX:31648200-31649400	Weak transcription	Fetal Intestine Large	intestine
46	chrX:31648200-31650000	Weak transcription	Duodenum Mucosa	Duodenum
47	chrX:31648400-31648600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chrX:31648600-31649600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chrX:31649000-31649400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chrX:31649400-31649600	Enhancers	Brain Angular Gyrus	brain

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