Variant report

Variant	esv3414901
Chromosome Location	chrX:76271911-76311509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:76308187-76308500	HepG2	liver:	n/a	n/a
2	BATF	chrX:76271981-76272136	GM12878	blood:	n/a	n/a
3	BHLHE40	chrX:76308184-76308632	HepG2	liver:	n/a	n/a
4	CEBPB	chrX:76273946-76274365	A549	lung:	n/a	n/a
5	CEBPB	chrX:76296480-76296718	IMR90	lung:	n/a	chrX:76296587-76296598
6	CEBPB	chrX:76296445-76296718	HepG2	liver:	n/a	chrX:76296587-76296598
7	CEBPB	chrX:76308399-76308504	HepG2	liver:	n/a	n/a
8	CEBPB	chrX:76273931-76274298	HepG2	liver:	n/a	n/a
9	CEBPB	chrX:76273946-76274569	IMR90	lung:	n/a	n/a
10	CEBPB	chrX:76296467-76296686	A549	lung:	n/a	chrX:76296587-76296598
11	CEBPB	chrX:76308048-76308667	HepG2	liver:	n/a	n/a
12	CHD2	chrX:76297403-76297567	HepG2	liver:	n/a	n/a
13	CTCF	chrX:76283578-76283610	GM20000	blood:	n/a	n/a
14	CTCF	chrX:76283536-76283554	GM20000	blood:	n/a	n/a
15	CTCF	chrX:76307787-76307842	GM10266	blood:	n/a	n/a
16	CTCF	chrX:76300379-76300418	LNCaP	prostate:	n/a	n/a
17	CTCF	chrX:76278337-76278426	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:76297213-76297241	Medullo	brain:	n/a	n/a
19	CTCF	chrX:76277077-76277135	GM20000	blood:	n/a	n/a
20	CTCF	chrX:76285550-76285554	GM20000	blood:	n/a	n/a
21	CTCF	chrX:76304809-76304872	GM10266	blood:	n/a	n/a
22	CTCF	chrX:76301786-76301863	GM10266	blood:	n/a	n/a
23	CTCF	chrX:76278397-76278443	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chrX:76289822-76289858	Lung_OC	lung:	n/a	n/a
25	CTCF	chrX:76308852-76308882	Lung_OC	lung:	n/a	n/a
26	CTCF	chrX:76306059-76306112	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chrX:76307747-76307766	GM10266	blood:	n/a	n/a
28	EP300	chrX:76308230-76308601	HepG2	liver:	n/a	chrX:76308447-76308455
29	EP300	chrX:76308126-76308596	HepG2	liver:	n/a	chrX:76308447-76308455
30	EP300	chrX:76308135-76308732	ECC-1	luminal epithelium:	n/a	chrX:76308447-76308455
31	EP300	chrX:76308034-76308608	HepG2	liver:	n/a	chrX:76308447-76308455
32	FOS	chrX:76305803-76306156	HUVEC	blood vessel:	n/a	n/a
33	FOXA1	chrX:76308057-76308592	HepG2	liver:	n/a	n/a
34	FOXA1	chrX:76310019-76310316	HepG2	liver:	n/a	n/a
35	FOXA1	chrX:76308134-76308555	HepG2	liver:	n/a	n/a
36	FOXA1	chrX:76308192-76308627	HepG2	liver:	n/a	n/a
37	FOXA1	chrX:76308173-76308519	HepG2	liver:	n/a	n/a
38	FOXA1	chrX:76308288-76308502	T-47D	breast:	n/a	n/a
39	FOXA2	chrX:76286702-76287040	A549	lung:	n/a	n/a
40	FOXA2	chrX:76308066-76308589	HepG2	liver:	n/a	n/a
41	FOXA2	chrX:76310061-76310274	HepG2	liver:	n/a	n/a
42	GABPA	chrX:76271997-76272101	Hela-S3	cervix:	n/a	n/a
43	HDAC2	chrX:76308177-76308549	HepG2	liver:	n/a	n/a
44	HNF4A	chrX:76308204-76308496	HepG2	liver:	n/a	n/a
45	HNF4A	chrX:76308329-76308503	HepG2	liver:	n/a	n/a
46	HNF4G	chrX:76308206-76308554	HepG2	liver:	n/a	n/a
47	JUN	chrX:76308225-76308605	HepG2	liver:	n/a	n/a
48	JUN	chrX:76308273-76308609	HUVEC	blood vessel:	n/a	n/a
49	JUND	chrX:76308261-76308637	HepG2	liver:	n/a	chrX:76308627-76308636
50	MAFF	chrX:76309017-76309330	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149214888..149215551-chrX:76308420..76309419,2	MCF-7	breast:
2	chrX:76278562..76281311-chrX:76283274..76285842,2	K562	blood:
3	chrX:76278562..76281311-chrX:76283274..76285842,2	K562	blood:
4	chr1:149214438..149216121-chrX:76307420..76308940,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP509	TF binding region
ENSG00000252826	chromatin interactions

Extended variants
information (count: 354 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141471061	chrX:76280002-76280003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs734942	chrX:76280172-76280173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183077207	chrX:76280202-76280203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139167694	chrX:76280290-76280291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188110757	chrX:76280332-76280333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189866720	chrX:76280365-76280366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370818360	chrX:76280388-76280389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142647358	chrX:76280399-76280400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182256358	chrX:76280538-76280539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368070368	chrX:76280573-76280574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146038145	chrX:76280597-76280598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139982940	chrX:76280628-76280629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188020586	chrX:76280655-76280656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192442177	chrX:76280891-76280892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113166031	chrX:76281047-76281048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185563605	chrX:76281066-76281067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188437796	chrX:76281106-76281107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143128838	chrX:76281238-76281239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375940127	chrX:76281253-76281254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193028790	chrX:76281293-76281294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368507990	chrX:76281336-76281337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145465414	chrX:76281386-76281387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5902753	chrX:76281538-76281539	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs200760816	chrX:76281541-76281542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs201587736	chrX:76281543-76281544	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs112869593	chrX:76281547-76281548	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371439324	chrX:76281598-76281599	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs184779778	chrX:76281687-76281688	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs142585597	chrX:76281692-76281693	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs188528962	chrX:76281707-76281708	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs371873872	chrX:76281871-76281872	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs151296665	chrX:76281894-76281895	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs3131452	chrX:76282008-76282009	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs147094082	chrX:76282232-76282233	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs181004521	chrX:76282278-76282279	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs147737055	chrX:76282382-76282383	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs183579427	chrX:76282426-76282427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189437569	chrX:76282458-76282459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142650072	chrX:76282533-76282534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182211881	chrX:76282567-76282568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187253826	chrX:76282581-76282582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112279877	chrX:76282631-76282632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3131453	chrX:76282657-76282658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375271136	chrX:76282675-76282676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113377583	chrX:76282679-76282680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10532397	chrX:76282954-76282955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181619462	chrX:76282979-76282980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149374082	chrX:76283095-76283096	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs185892159	chrX:76283152-76283153	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190178292	chrX:76283380-76283381	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Breast cancer	21611746	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:76280000-76281400	Enhancers	Fetal Muscle Leg	muscle
2	chrX:76281400-76282400	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chrX:76282200-76283200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:76282400-76282600	Enhancers	Fetal Muscle Leg	muscle
5	chrX:76282600-76288800	Weak transcription	Fetal Muscle Leg	muscle
6	chrX:76283000-76284400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chrX:76283200-76283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chrX:76287400-76288000	Enhancers	HepG2	liver
9	chrX:76287600-76287800	Enhancers	Fetal Stomach	stomach
10	chrX:76287800-76289400	Weak transcription	Fetal Stomach	stomach
11	chrX:76288800-76289000	Enhancers	Fetal Muscle Leg	muscle
12	chrX:76289000-76290200	Weak transcription	Fetal Muscle Leg	muscle
13	chrX:76289400-76289600	Enhancers	Fetal Stomach	stomach
14	chrX:76289600-76290800	Weak transcription	Fetal Stomach	stomach
15	chrX:76289600-76291200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chrX:76290200-76290400	Enhancers	Fetal Muscle Leg	muscle
17	chrX:76290400-76290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chrX:76290400-76291000	Weak transcription	Fetal Muscle Leg	muscle
19	chrX:76290400-76291400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chrX:76290400-76291600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chrX:76290600-76290800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chrX:76290600-76291000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chrX:76290600-76291000	Active TSS	Primary B cells from cord blood	blood
24	chrX:76290600-76291000	Active TSS	Primary B cells from peripheral blood	blood
25	chrX:76290600-76291000	Active TSS	Monocytes-CD14+_RO01746	blood
26	chrX:76290600-76291200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chrX:76290600-76292000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chrX:76290800-76291000	Enhancers	Fetal Stomach	stomach
29	chrX:76290800-76291400	Active TSS	Primary hematopoietic stem cells	blood
30	chrX:76290800-76291600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chrX:76291000-76291200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chrX:76291000-76291200	Enhancers	Fetal Muscle Leg	muscle
33	chrX:76291200-76291600	Enhancers	Primary B cells from peripheral blood	blood
34	chrX:76291400-76291800	Enhancers	Primary hematopoietic stem cells	blood
35	chrX:76291600-76291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chrX:76292000-76292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chrX:76297000-76298000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chrX:76297200-76297600	Enhancers	Fetal Muscle Trunk	muscle
39	chrX:76297200-76297800	Enhancers	HepG2	liver
40	chrX:76297200-76298000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chrX:76297200-76298000	Enhancers	Fetal Muscle Leg	muscle
42	chrX:76300800-76303600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chrX:76305400-76309200	Enhancers	HUVEC	blood vessel
44	chrX:76306200-76306400	Enhancers	Adipose Nuclei	Adipose
45	chrX:76306200-76306400	Enhancers	HepG2	liver
46	chrX:76306400-76307400	Weak transcription	HepG2	liver
47	chrX:76306600-76307800	Weak transcription	Adipose Nuclei	Adipose
48	chrX:76307400-76309800	Enhancers	HepG2	liver
49	chrX:76307600-76308400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chrX:76307600-76308400	Enhancers	Skeletal Muscle Male	skeletal muscle

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