Variant report

Variant	esv3365132
Chromosome Location	chrX:74308852-74407212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:674)
CpG islands
(count:611)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:74370505-74370707	K562	blood:	n/a	n/a
2	ATF1	chrX:74372096-74372360	K562	blood:	n/a	n/a
3	BACH1	chrX:74335505-74336264	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chrX:74326638-74326961	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chrX:74364887-74365171	GM12878	blood:	n/a	n/a
6	BCLAF1	chrX:74375874-74376322	GM12878	blood:	n/a	n/a
7	BCLAF1	chrX:74375693-74376351	GM12878	blood:	n/a	n/a
8	BHLHE40	chrX:74376034-74376369	HepG2	liver:	n/a	n/a
9	BRCA1	chrX:74375316-74376308	Hela-S3	cervix:	n/a	n/a
10	CBX3	chrX:74376015-74376274	K562	blood:	n/a	n/a
11	CEBPB	chrX:74376300-74376868	IMR90	lung:	n/a	n/a
12	CEBPB	chrX:74376497-74376894	MCF-7	breast:	n/a	n/a
13	CEBPB	chrX:74376504-74376886	A549	lung:	n/a	n/a
14	CEBPB	chrX:74375881-74376876	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chrX:74322291-74322511	HepG2	liver:	n/a	n/a
16	CEBPB	chrX:74384377-74384654	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chrX:74352890-74353141	K562	blood:	n/a	n/a
18	CEBPB	chrX:74376508-74376841	HepG2	liver:	n/a	n/a
19	CEBPB	chrX:74376459-74376850	A549	lung:	n/a	n/a
20	CEBPB	chrX:74384382-74384654	A549	lung:	n/a	n/a
21	CEBPB	chrX:74376543-74376777	K562	blood:	n/a	n/a
22	CEBPB	chrX:74376404-74376912	A549	lung:	n/a	n/a
23	CEBPB	chrX:74376506-74376853	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chrX:74384351-74384682	IMR90	lung:	n/a	chrX:74384660-74384671
25	CEBPB	chrX:74352938-74353132	A549	lung:	n/a	n/a
26	CEBPB	chrX:74376481-74376839	K562	blood:	n/a	n/a
27	CEBPB	chrX:74384379-74384709	K562	blood:	n/a	chrX:74384660-74384671
28	CEBPB	chrX:74384435-74384671	HepG2	liver:	n/a	chrX:74384660-74384671
29	CEBPB	chrX:74352871-74353142	IMR90	lung:	n/a	n/a
30	CEBPB	chrX:74376439-74376891	K562	blood:	n/a	n/a
31	CEBPB	chrX:74371642-74372069	Hela-S3	cervix:	n/a	n/a
32	CHD1	chrX:74375645-74376022	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chrX:74375773-74376335	Hela-S3	cervix:	n/a	n/a
34	CHD2	chrX:74338608-74338628	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chrX:74333783-74333807	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chrX:74375910-74376246	HepG2	liver:	n/a	n/a
37	CHD2	chrX:74375913-74376244	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chrX:74375890-74376232	K562	blood:	n/a	n/a
39	CHD2	chrX:74375851-74376234	GM12878	blood:	n/a	n/a
40	CTCF	chrX:74327237-74327327	LNCaP	prostate:	n/a	n/a
41	CTCF	chrX:74376320-74376470	HMF	breast:	n/a	n/a
42	CTCF	chrX:74327726-74327826	MCF-7	breast:	n/a	n/a
43	CTCF	chrX:74352960-74353110	AG09319	gingival:	n/a	n/a
44	CTCF	chrX:74389995-74389999	A549	lung:	n/a	n/a
45	CTCF	chrX:74392167-74392290	GM20000	blood:	n/a	n/a
46	CTCF	chrX:74376060-74376210	RPTEC	kidney:	n/a	n/a
47	CTCF	chrX:74375894-74376249	GM12878	blood:	n/a	n/a
48	CTCF	chrX:74392656-74392735	LNCaP	prostate:	n/a	n/a
49	CTCF	chrX:74357467-74357553	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:74353000-74353230	AG10803	skin:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:74376313-74376363	MCF10A-Er-Src	breast:	n/a
2	chrX:74376313-74376363	MCF10A-Er-Src	breast:	n/a
3	chrX:74377604-74377654	ProgFib	skin:	n/a
4	chrX:74375966-74376016	HAEpiC	amniotic membrane:	n/a
5	chrX:74376313-74376363	PFSK-1	brain:	n/a
6	chrX:74376828-74376878	HCPEpiC	choroid plexus:	n/a
7	chrX:74376828-74376878	CMK	blood:	n/a
8	chrX:74376251-74376301	GM12891	blood:	n/a
9	chrX:74376046-74376096	LNCaP	prostate:	n/a
10	chrX:74376251-74376301	HCT-116	colon:	n/a
11	chrX:74376285-74376335	AoSMC	blood vessel:	n/a
12	chrX:74376241-74376291	H1-hESC	embryonic stem cell:	embryo
13	chrX:74376285-74376335	GM12891	blood:	n/a
14	chrX:74376811-74376861	Jurkat	blood:	n/a
15	chrX:74376285-74376335	K562	blood:	n/a
16	chrX:74376828-74376878	HPAEpiC	pulmonary alveolar:	n/a
17	chrX:74376828-74376878	BE2_C	brain:	n/a
18	chrX:74375795-74375845	HRCEpiC	kidney:	n/a
19	chrX:74376046-74376096	HMEC	breast:	n/a
20	chrX:74376828-74376878	HCM	heart:	n/a
21	chrX:74376313-74376363	U87	brain:	n/a
22	chrX:74376811-74376861	AG09319	gingival:	n/a
23	chrX:74376241-74376291	BE2_C	brain:	n/a
24	chrX:74376251-74376301	HCF	heart:	n/a
25	chrX:74376811-74376861	SKMC	muscle:	n/a
26	chrX:74376313-74376363	T-47D	breast:	n/a
27	chrX:74376241-74376291	HUVEC	blood vessel:	n/a
28	chrX:74376241-74376291	MCF10A-Er-Src	breast:	n/a
29	chrX:74377604-74377654	ovcar-3	ovarian:	n/a
30	chrX:74375795-74375845	HMEC	breast:	n/a
31	chrX:74375966-74376016	PFSK-1	brain:	n/a
32	chrX:74376828-74376878	HL-60	blood:	n/a
33	chrX:74375795-74375845	HIPEpiC	eye:	n/a
34	chrX:74376251-74376301	MCF10A-Er-Src	breast:	n/a
35	chrX:74377604-74377654	SAEC	small airway:	n/a
36	chrX:74376313-74376363	GM12878	blood:	n/a
37	chrX:74377604-74377654	PFSK-1	brain:	n/a
38	chrX:74376046-74376096	NH-A	brain:	n/a
39	chrX:74376313-74376363	NT2-D1	testis:	n/a
40	chrX:74375795-74375845	MCF10A-Er-Src	breast:	n/a
41	chrX:74376251-74376301	RPTEC	kidney:	n/a
42	chrX:74376285-74376335	GM19239	blood:	n/a
43	chrX:74376251-74376301	Hepatocyte	liver:	n/a
44	chrX:74376251-74376301	IMR90	lung:	fetal
45	chrX:74375795-74375845	AoSMC	blood vessel:	n/a
46	chrX:74376046-74376096	HCT-116	colon:	n/a
47	chrX:74376251-74376301	HIPEpiC	eye:	n/a
48	chrX:74376046-74376096	AG04449	skin:	fetal
49	chrX:74376241-74376291	T-47D	breast:	n/a
50	chrX:74376251-74376301	HL-60	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:74376140..74378134-chrX:74382094..74384468,2	K562	blood:
2	chrX:74372365..74373913-chrX:74374660..74377035,2	K562	blood:
3	chrX:74314504..74317278-chrX:74322765..74324713,2	K562	blood:
4	chrX:74314504..74317278-chrX:74322765..74324713,2	K562	blood:
5	chrX:74375801..74378134-chrX:74382076..74383594,2	K562	blood:
6	chrX:74376635..74378465-chrX:74385183..74387134,3	K562	blood:
7	chrX:74376635..74378465-chrX:74385183..74387134,3	K562	blood:
8	chrX:74369928..74371573-chrX:74374800..74376424,2	MCF-7	breast:
9	chrX:74367601..74369785-chrX:74374471..74376150,2	K562	blood:
10	chr16:576620..578202-chrX:74374249..74376331,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB7	TF binding region
ABCB7	CpG island
ENSG00000131269	chromatin interactions
ENSG00000103326	chromatin interactions

Extended variants
information (count: 1004 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188018282	chrX:74309038-74309039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192120625	chrX:74309081-74309082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184712854	chrX:74309211-74309212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188072420	chrX:74309255-74309256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546533034	chrX:74309261-74309262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192727813	chrX:74309342-74309343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5981764	chrX:74309388-74309389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4892540	chrX:74309393-74309394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184350471	chrX:74309449-74309450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189090501	chrX:74309473-74309474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79953887	chrX:74309485-74309486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12688925	chrX:74309761-74309762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191420821	chrX:74310103-74310104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4567213	chrX:74310316-74310317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184670514	chrX:74310347-74310348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189519379	chrX:74310350-74310351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181381029	chrX:74310383-74310384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143809724	chrX:74310626-74310627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146913178	chrX:74310688-74310689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139363265	chrX:74310757-74310758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143269876	chrX:74310765-74310766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4892541	chrX:74310940-74310941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112229966	chrX:74311500-74311501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61662732	chrX:74311511-74311512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397964581	chrX:74311521-74311522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185911169	chrX:74311678-74311679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189716876	chrX:74311755-74311756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138268450	chrX:74311759-74311760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181347706	chrX:74311786-74311787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149496980	chrX:74311915-74311916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553972577	chrX:74311929-74311930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571012617	chrX:74312202-74312203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186664967	chrX:74312205-74312206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201431488	chrX:74312211-74312212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57888422	chrX:74312310-74312311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538392308	chrX:74312344-74312345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148620868	chrX:74312485-74312486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143184861	chrX:74312559-74312560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539437407	chrX:74312832-74312833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146175080	chrX:74312880-74312881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190709985	chrX:74312926-74312927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139412818	chrX:74313000-74313001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182429951	chrX:74313018-74313019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144127721	chrX:74313111-74313112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186429340	chrX:74313178-74313179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191047069	chrX:74313312-74313313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35588051	chrX:74313324-74313325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374609974	chrX:74313363-74313364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371831374	chrX:74313390-74313391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182884147	chrX:74313509-74313510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
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	21364760	CNVD
Premature ovarian failure	20952765	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74265800-74316600	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:74270400-74317200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chrX:74295200-74333800	Weak transcription	Fetal Intestine Large	intestine
4	chrX:74295400-74327200	Weak transcription	Duodenum Mucosa	Duodenum
5	chrX:74295400-74333000	Weak transcription	Primary B cells from peripheral blood	blood
6	chrX:74305400-74318200	Weak transcription	GM12878-XiMat	blood
7	chrX:74306600-74330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chrX:74307000-74315000	Weak transcription	Stomach Mucosa	stomach
9	chrX:74307000-74326800	Weak transcription	Left Ventricle	heart
10	chrX:74307200-74314600	Weak transcription	Dnd41	blood
11	chrX:74307200-74317000	Weak transcription	Small Intestine	intestine
12	chrX:74307400-74316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chrX:74307600-74312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:74308000-74336200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chrX:74308200-74333800	Weak transcription	Liver	Liver
16	chrX:74308800-74317000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:74311000-74316800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:74311200-74314200	Weak transcription	Brain Germinal Matrix	brain
19	chrX:74311800-74336000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chrX:74312000-74329600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chrX:74312600-74312800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chrX:74312600-74313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:74312600-74317600	Weak transcription	Fetal Heart	heart
24	chrX:74312800-74313000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chrX:74313000-74316800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chrX:74313200-74318000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chrX:74313200-74334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chrX:74313400-74326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:74313600-74336200	Weak transcription	Hela-S3	cervix
30	chrX:74314400-74317600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chrX:74314600-74315200	Strong transcription	Dnd41	blood
32	chrX:74314600-74335000	Weak transcription	Brain Hippocampus Middle	brain
33	chrX:74314800-74317200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chrX:74315000-74315200	Enhancers	Stomach Mucosa	stomach
35	chrX:74315200-74317000	Weak transcription	Dnd41	blood
36	chrX:74315200-74331400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chrX:74315400-74320000	Weak transcription	Fetal Lung	lung
38	chrX:74315600-74329000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chrX:74316000-74318400	Weak transcription	NHDF-Ad	bronchial
40	chrX:74316200-74318200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chrX:74316200-74328200	Weak transcription	Fetal Thymus	thymus
42	chrX:74316400-74316600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chrX:74316400-74318400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chrX:74316400-74319400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chrX:74316600-74316800	Enhancers	Primary hematopoietic stem cells	blood
46	chrX:74316600-74327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chrX:74316800-74317000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:74316800-74317200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chrX:74316800-74317400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chrX:74316800-74323800	Weak transcription	Primary hematopoietic stem cells	blood

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