Variant report

Variant	esv3434014
Chromosome Location	chrX:76231311-76402097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:525)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:525 , 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:76308187-76308500	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:76383303-76383541	HepG2	liver:	n/a	n/a
3	ATF2	chrX:76339085-76339504	GM12878	blood:	n/a	n/a
4	BACH1	chrX:76235036-76235745	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chrX:76271981-76272136	GM12878	blood:	n/a	n/a
6	BHLHE40	chrX:76235184-76235740	HepG2	liver:	n/a	chrX:76235605-76235621
7	BHLHE40	chrX:76383321-76383503	HepG2	liver:	n/a	n/a
8	BHLHE40	chrX:76308184-76308632	HepG2	liver:	n/a	n/a
9	CEBPB	chrX:76388518-76388874	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chrX:76265879-76266180	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chrX:76364852-76365023	HepG2	liver:	n/a	chrX:76364969-76364980
12	CEBPB	chrX:76296445-76296718	HepG2	liver:	n/a	chrX:76296587-76296598
13	CEBPB	chrX:76383350-76383553	IMR90	lung:	n/a	n/a
14	CEBPB	chrX:76273946-76274569	IMR90	lung:	n/a	n/a
15	CEBPB	chrX:76383310-76383501	HepG2	liver:	n/a	n/a
16	CEBPB	chrX:76351194-76351394	Hela-S3	cervix:	n/a	chrX:76351345-76351356
17	CEBPB	chrX:76351192-76351497	HepG2	liver:	n/a	chrX:76351345-76351356
18	CEBPB	chrX:76383323-76383525	HepG2	liver:	n/a	n/a
19	CEBPB	chrX:76273931-76274298	HepG2	liver:	n/a	n/a
20	CEBPB	chrX:76351291-76351477	K562	blood:	n/a	chrX:76351345-76351356
21	CEBPB	chrX:76351216-76351517	A549	lung:	n/a	chrX:76351345-76351356
22	CEBPB	chrX:76383251-76383592	HepG2	liver:	n/a	n/a
23	CEBPB	chrX:76308399-76308504	HepG2	liver:	n/a	n/a
24	CEBPB	chrX:76351174-76351525	IMR90	lung:	n/a	chrX:76351345-76351356
25	CEBPB	chrX:76296480-76296718	IMR90	lung:	n/a	chrX:76296587-76296598
26	CEBPB	chrX:76308048-76308667	HepG2	liver:	n/a	n/a
27	CEBPB	chrX:76273946-76274365	A549	lung:	n/a	n/a
28	CEBPB	chrX:76296467-76296686	A549	lung:	n/a	chrX:76296587-76296598
29	CEBPB	chrX:76388512-76388883	HepG2	liver:	n/a	n/a
30	CHD1	chrX:76235232-76235673	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chrX:76234814-76235014	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chrX:76297403-76297567	HepG2	liver:	n/a	n/a
33	CTCF	chrX:76380840-76380990	GM12867	blood:	n/a	n/a
34	CTCF	chrX:76380820-76380970	HPAF	blood vessel:	n/a	n/a
35	CTCF	chrX:76391960-76391970	GM10248	blood:	n/a	n/a
36	CTCF	chrX:76380940-76381090	HCM	heart:	n/a	n/a
37	CTCF	chrX:76380880-76381030	GM12874	blood:	n/a	n/a
38	CTCF	chrX:76234180-76234330	GM12868	blood:	n/a	n/a
39	CTCF	chrX:76380826-76381072	K562	blood:	n/a	n/a
40	CTCF	chrX:76335017-76335190	HepG2	liver:	n/a	n/a
41	CTCF	chrX:76266723-76266852	MCF-7	breast:	n/a	n/a
42	CTCF	chrX:76380900-76381050	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chrX:76380836-76380838	GM13976	blood:	n/a	n/a
44	CTCF	chrX:76335129-76335175	GM12892	blood:	n/a	n/a
45	CTCF	chrX:76380857-76381044	MCF-7	breast:	n/a	n/a
46	CTCF	chrX:76304809-76304872	GM10266	blood:	n/a	n/a
47	CTCF	chrX:76380840-76380990	GM12875	blood:	n/a	n/a
48	CTCF	chrX:76380840-76380990	HCT-116	colon:	n/a	n/a
49	CTCF	chrX:76335060-76335210	HEK293	kidney:	n/a	n/a
50	CTCF	chrX:76380820-76380970	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149214438..149216121-chrX:76307420..76308940,2	MCF-7	breast:
2	chrX:76278562..76281311-chrX:76283274..76285842,2	K562	blood:
3	chr1:149214888..149215551-chrX:76308420..76309419,2	MCF-7	breast:
4	chrX:76232252..76234019-chrX:76241315..76243739,2	K562	blood:
5	chrX:76232252..76234019-chrX:76241315..76243739,2	K562	blood:
6	chrX:76278562..76281311-chrX:76283274..76285842,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATRX-1	chrX:76234652-76234957	NR_110405
2	lnc-ATRX-1	chrX:76234652-76234957	NR_110406
3	lnc-ATRX-1	chrX:76234652-76234957	NONHSAT137681
4	lnc-ATRX-1	chrX:76234652-76234957	NR_110400
5	lnc-ATRX-1	chrX:76234652-76234957	NR_110401
6	lnc-ATRX-1	chrX:76234652-76234957	NR_110404
7	lnc-ATRX-1	chrX:76234652-76234957	NR_110403

No data

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

Extended variants
information (count: 997 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182370784	chrX:76231496-76231497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371474174	chrX:76231501-76231502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73499503	chrX:76231623-76231624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12847629	chrX:76231844-76231845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189254695	chrX:76231902-76231903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113630697	chrX:76231989-76231990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371272306	chrX:76232204-76232205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs193087084	chrX:76232236-76232237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147982618	chrX:76232238-76232239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185432276	chrX:76232282-76232283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189905693	chrX:76232367-76232368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111504719	chrX:76232401-76232402	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111710584	chrX:76232470-76232471	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369702663	chrX:76232684-76232685	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184020649	chrX:76232738-76232739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188360143	chrX:76232839-76232840	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs5937671	chrX:76232915-76232916	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs16992369	chrX:76232928-76232929	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371210986	chrX:76232968-76232969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181015035	chrX:76232973-76232974	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184304069	chrX:76232980-76232981	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190765604	chrX:76233366-76233367	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181999473	chrX:76233399-76233400	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187254871	chrX:76233426-76233427	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs5937672	chrX:76233437-76233438	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113465056	chrX:76233536-76233537	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs5938806	chrX:76233646-76233647	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146128795	chrX:76233745-76233746	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190687362	chrX:76233764-76233765	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181480151	chrX:76233784-76233785	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185725925	chrX:76233809-76233810	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190241201	chrX:76233837-76233838	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs183018692	chrX:76233940-76233941	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187552311	chrX:76234174-76234175	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112633522	chrX:76234451-76234452	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200213342	chrX:76234464-76234465	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs57166194	chrX:76234500-76234501	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369722891	chrX:76234501-76234502	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111895292	chrX:76234502-76234503	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs5981523	chrX:76234503-76234504	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192105866	chrX:76234505-76234506	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371556406	chrX:76234512-76234513	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184320301	chrX:76234524-76234525	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187162174	chrX:76234767-76234768	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs5982342	chrX:76234772-76234773	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs191613765	chrX:76234825-76234826	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs112019347	chrX:76234829-76234830	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs184582571	chrX:76234997-76234998	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368290768	chrX:76235150-76235151	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189251907	chrX:76235441-76235442	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:76219800-76232200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chrX:76232200-76235000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chrX:76232400-76233000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chrX:76232600-76232800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chrX:76232600-76233000	Enhancers	Brain Hippocampus Middle	brain
6	chrX:76232600-76234800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chrX:76232600-76235000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chrX:76232800-76233400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chrX:76233000-76233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chrX:76233000-76233400	Weak transcription	Brain Hippocampus Middle	brain
11	chrX:76233200-76234000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chrX:76233400-76233600	Enhancers	Brain Angular Gyrus	brain
13	chrX:76233400-76233600	Enhancers	Brain Hippocampus Middle	brain
14	chrX:76233400-76233600	Enhancers	Brain Substantia Nigra	brain
15	chrX:76233400-76234000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chrX:76233400-76234400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chrX:76233400-76234600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:76233400-76235400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chrX:76233600-76234000	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chrX:76233600-76234400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chrX:76233600-76235000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chrX:76233600-76235200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chrX:76233600-76235400	Active TSS	Brain Angular Gyrus	brain
24	chrX:76233600-76235400	Active TSS	Brain Substantia Nigra	brain
25	chrX:76233600-76235600	Active TSS	Brain Cingulate Gyrus	brain
26	chrX:76233600-76235800	Active TSS	Brain Germinal Matrix	brain
27	chrX:76233600-76235800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chrX:76233800-76234400	Enhancers	H9 Cell Line	embryonic stem cell
29	chrX:76233800-76235400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chrX:76234000-76234600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chrX:76234000-76235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chrX:76234000-76235400	Active TSS	Brain Hippocampus Middle	brain
33	chrX:76234000-76235800	Enhancers	H1 Cell Line	embryonic stem cell
34	chrX:76234200-76235000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chrX:76234400-76235200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chrX:76234400-76235400	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chrX:76234400-76235800	Active TSS	Brain Anterior Caudate	brain
38	chrX:76234600-76234800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chrX:76234600-76235200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chrX:76234800-76235000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chrX:76234800-76235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chrX:76234800-76235200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chrX:76234800-76235200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chrX:76234800-76235400	Active TSS	Fetal Brain Male	brain
45	chrX:76234800-76235600	Active TSS	Fetal Brain Female	brain
46	chrX:76235000-76235200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chrX:76235000-76235200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chrX:76235000-76235200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chrX:76235000-76235200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chrX:76235000-76235200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links