Variant report

Variant	nsv520605
Chromosome Location	chrX:73549327-73569476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:73563360-73563559	K562	blood:	n/a	n/a
2	ARID3A	chrX:73563894-73564181	K562	blood:	n/a	n/a
3	BATF	chrX:73563759-73564046	GM12878	blood:	n/a	n/a
4	BATF	chrX:73563765-73564066	GM12878	blood:	n/a	n/a
5	BCL3	chrX:73563586-73564233	A549	lung:	n/a	n/a
6	BCL3	chrX:73563545-73564257	A549	lung:	n/a	n/a
7	BHLHE40	chrX:73563895-73564226	GM12878	blood:	n/a	n/a
8	CCNT2	chrX:73563336-73564150	K562	blood:	n/a	n/a
9	CCNT2	chrX:73565974-73566295	K562	blood:	n/a	n/a
10	CEBPB	chrX:73563699-73564161	A549	lung:	n/a	n/a
11	CEBPB	chrX:73563938-73564187	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chrX:73563671-73564067	IMR90	lung:	n/a	n/a
13	CTCF	chrX:73563960-73564110	NHEK	skin:	n/a	n/a
14	CTCF	chrX:73564360-73564510	HRPEpiC	eye:	n/a	n/a
15	CTCF	chrX:73564000-73564150	HEK293	kidney:	n/a	n/a
16	CTCF	chrX:73563954-73564034	MCF-7	breast:	n/a	n/a
17	CTCF	chrX:73563980-73564130	GM12878	blood:	n/a	n/a
18	CTCF	chrX:73563916-73564181	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chrX:73564240-73564390	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chrX:73563940-73564090	HFF	foreskin:	n/a	n/a
21	CTCF	chrX:73551035-73551118	ProgFib	skin:	n/a	n/a
22	CTCF	chrX:73563980-73564130	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chrX:73563960-73564110	GM12874	blood:	n/a	n/a
24	CTCF	chrX:73563980-73564130	HPF	lung:	n/a	n/a
25	CTCF	chrX:73565880-73566030	GM06990	blood:	n/a	n/a
26	CTCF	chrX:73563880-73564030	A549	lung:	n/a	n/a
27	CTCF	chrX:73564000-73564150	GM12866	blood:	n/a	n/a
28	CTCF	chrX:73564327-73564415	GM19238	blood:	n/a	n/a
29	CTCF	chrX:73563929-73564127	GM19239	blood:	n/a	n/a
30	CTCF	chrX:73563960-73564110	AoAF	blood vessel:	n/a	n/a
31	CTCF	chrX:73563932-73564185	GM10266	blood:	n/a	n/a
32	CTCF	chrX:73565933-73565977	Medullo	brain:	n/a	n/a
33	CTCF	chrX:73563900-73564050	AG09309	skin:	n/a	n/a
34	CTCF	chrX:73563980-73564130	Hela-S3	cervix:	n/a	n/a
35	CTCF	chrX:73554843-73554911	GM10266	blood:	n/a	n/a
36	CTCF	chrX:73563980-73564130	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chrX:73563938-73564156	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chrX:73564020-73564170	K562	blood:	n/a	n/a
39	CTCF	chrX:73563894-73564197	GM12878	blood:	n/a	n/a
40	CTCF	chrX:73563960-73564110	Caco-2	colon:	n/a	n/a
41	CTCF	chrX:73563923-73564152	HepG2	liver:	n/a	n/a
42	CTCF	chrX:73563930-73564190	Lung_OC	lung:	n/a	n/a
43	CTCF	chrX:73563960-73564110	HL-60	blood:	n/a	n/a
44	CTCF	chrX:73563980-73564130	AG09319	gingival:	n/a	n/a
45	CTCF	chrX:73563940-73564090	BJ	skin:	n/a	n/a
46	CTCF	chrX:73563960-73564110	MCF-7	breast:	n/a	n/a
47	CTCF	chrX:73564000-73564150	AG09309	skin:	n/a	n/a
48	CTCF	chrX:73564120-73564270	HAc	cerebellar:	n/a	n/a
49	CTCF	chrX:73563900-73564050	HCM	heart:	n/a	n/a
50	CTCF	chrX:73563829-73564227	IMR90	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:73075052..73075793-chrX:73563582..73564389,3	MCF-7	breast:
2	chrX:73565416..73566092-chrX:73769898..73770502,2	MCF-7	breast:
3	chrX:73564172..73566184-chrX:73572530..73575496,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226515	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542808866	chrX:73559899-73559900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183431813	chrX:73560215-73560216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1263247	chrX:73560425-73560426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577062644	chrX:73560433-73560434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138899035	chrX:73560507-73560508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368720722	chrX:73560532-73560533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187552310	chrX:73560579-73560580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191362054	chrX:73560594-73560595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1263246	chrX:73560643-73560644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377567259	chrX:73560649-73560650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139043877	chrX:73560669-73560670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149868670	chrX:73560692-73560693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371095277	chrX:73560779-73560780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184567024	chrX:73560793-73560794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375122846	chrX:73560796-73560797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144165176	chrX:73560883-73560884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187783295	chrX:73561028-73561029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148697769	chrX:73561260-73561261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73624296	chrX:73561428-73561429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373648663	chrX:73561485-73561486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544463719	chrX:73561522-73561523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147834625	chrX:73561580-73561581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112262934	chrX:73561800-73561801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35389502	chrX:73561987-73561988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141285473	chrX:73562187-73562188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191877961	chrX:73562262-73562263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151265659	chrX:73562480-73562481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376657426	chrX:73562510-73562511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185156002	chrX:73562517-73562518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1263245	chrX:73562531-73562532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374477931	chrX:73562536-73562537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190397759	chrX:73562674-73562675	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138137985	chrX:73562728-73562729	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113637372	chrX:73562987-73562988	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs1263244	chrX:73563046-73563047	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1263243	chrX:73563219-73563220	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34012675	chrX:73563371-73563372	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs181219814	chrX:73563387-73563388	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370251003	chrX:73563451-73563452	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs142099720	chrX:73563527-73563528	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs1263242	chrX:73563545-73563546	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs184990896	chrX:73563560-73563561	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368960749	chrX:73563597-73563598	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571592385	chrX:73563616-73563617	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372150751	chrX:73563632-73563633	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs7891598	chrX:73563708-73563709	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189065094	chrX:73563715-73563716	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150518795	chrX:73563737-73563738	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs180932418	chrX:73563750-73563751	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs1263241	chrX:73563777-73563778	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	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
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	19602461	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73559800-73560200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chrX:73559800-73560400	Enhancers	HUVEC	blood vessel
3	chrX:73559800-73560600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chrX:73560200-73563000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chrX:73560400-73563000	Weak transcription	HUVEC	blood vessel
6	chrX:73560600-73562800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chrX:73562000-73562200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chrX:73562200-73562800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chrX:73562400-73563600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chrX:73562600-73562800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chrX:73562600-73562800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chrX:73562600-73564200	Enhancers	Stomach Mucosa	stomach
13	chrX:73562600-73564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chrX:73562800-73563200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chrX:73562800-73563400	Enhancers	A549	lung
16	chrX:73562800-73563600	Enhancers	Duodenum Mucosa	Duodenum
17	chrX:73562800-73564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:73562800-73564600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chrX:73562800-73564600	Enhancers	Hela-S3	cervix
20	chrX:73563000-73563200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chrX:73563000-73563600	Enhancers	NHDF-Ad	bronchial
22	chrX:73563000-73563800	Enhancers	HUVEC	blood vessel
23	chrX:73563200-73563600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chrX:73563200-73563600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chrX:73563200-73563800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chrX:73563200-73563800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chrX:73563200-73563800	Enhancers	NH-A	brain
28	chrX:73563200-73564000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chrX:73563200-73564000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chrX:73563200-73564400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chrX:73563200-73564600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chrX:73563200-73564600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chrX:73563200-73564600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chrX:73563400-73563600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chrX:73563400-73563600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chrX:73563400-73563600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chrX:73563400-73563800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chrX:73563400-73563800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chrX:73563400-73563800	Enhancers	Muscle Satellite Cultured Cells	--
40	chrX:73563400-73563800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chrX:73563400-73563800	Flanking Active TSS	A549	lung
42	chrX:73563400-73564000	Enhancers	Primary hematopoietic stem cells	blood
43	chrX:73563400-73564000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chrX:73563400-73564000	Enhancers	Dnd41	blood
45	chrX:73563400-73564200	Enhancers	Adipose Nuclei	Adipose
46	chrX:73563400-73564200	Enhancers	Osteobl	bone
47	chrX:73563600-73564000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chrX:73563600-73564200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chrX:73563600-73564600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:73563600-73568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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