Variant report

Variant	esv3334028
Chromosome Location	chrX:29928156-30104332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chrX:29940713-29941091	GM12878	blood:	n/a	n/a
2	ATF3	chrX:29928928-29929077	GM12878	blood:	n/a	n/a
3	BATF	chrX:29940724-29941088	GM12878	blood:	n/a	n/a
4	BCL11A	chrX:29940696-29941033	GM12878	blood:	n/a	n/a
5	BHLHE40	chrX:29940894-29941050	GM12878	blood:	n/a	n/a
6	CEBPB	chrX:30005541-30005741	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chrX:29931776-29932130	A549	lung:	n/a	n/a
8	CEBPB	chrX:30024845-30025062	HepG2	liver:	n/a	chrX:30024881-30024890 chrX:30024879-30024890 chrX:30025014-30025025
9	CEBPB	chrX:30097053-30097288	IMR90	lung:	n/a	chrX:30097177-30097188
10	CEBPB	chrX:30041655-30041885	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:29982858-29982997	A549	lung:	n/a	chrX:29982903-29982912 chrX:29982903-29982912
12	CEBPB	chrX:29931735-29932149	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chrX:30080264-30080555	A549	lung:	n/a	chrX:30080380-30080391 chrX:30080381-30080392
14	CEBPB	chrX:29982733-29983087	IMR90	lung:	n/a	chrX:29982903-29982912 chrX:29982903-29982912
15	CEBPB	chrX:30081860-30082060	HepG2	liver:	n/a	chrX:30081953-30081964
16	CEBPB	chrX:30097053-30097278	HepG2	liver:	n/a	chrX:30097177-30097188
17	CEBPB	chrX:29970171-29970522	IMR90	lung:	n/a	chrX:29970351-29970362
18	CEBPB	chrX:29939376-29939848	IMR90	lung:	n/a	chrX:29939669-29939677 chrX:29939496-29939507
19	CEBPB	chrX:30039980-30040264	IMR90	lung:	n/a	chrX:30040132-30040145 chrX:30040134-30040145 chrX:30040132-30040145
20	CEBPB	chrX:30024827-30025066	IMR90	lung:	n/a	chrX:30024881-30024890 chrX:30024879-30024890 chrX:30025014-30025025
21	CEBPB	chrX:29931758-29932086	A549	lung:	n/a	n/a
22	CEBPB	chrX:30081796-30082064	IMR90	lung:	n/a	chrX:30081953-30081964
23	CEBPB	chrX:29931676-29932073	A549	lung:	n/a	n/a
24	CEBPB	chrX:30057920-30058227	IMR90	lung:	n/a	n/a
25	CEBPB	chrX:30081838-30082083	A549	lung:	n/a	chrX:30081953-30081964
26	CEBPB	chrX:29931714-29932147	IMR90	lung:	n/a	n/a
27	CEBPB	chrX:30000284-30000318	IMR90	lung:	n/a	n/a
28	CEBPB	chrX:30052899-30053016	A549	lung:	n/a	n/a
29	CEBPB	chrX:29931741-29932142	HepG2	liver:	n/a	n/a
30	CEBPB	chrX:30000279-30000479	A549	lung:	n/a	n/a
31	CEBPB	chrX:29970212-29970487	A549	lung:	n/a	chrX:29970351-29970362
32	CEBPB	chrX:29970212-29970519	HepG2	liver:	n/a	chrX:29970351-29970362
33	CEBPB	chrX:30080232-30080542	IMR90	lung:	n/a	chrX:30080380-30080391 chrX:30080381-30080392
34	CEBPB	chrX:30079048-30079140	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chrX:29982898-29982960	H1-hESC	embryonic stem cell:	n/a	chrX:29982903-29982912 chrX:29982903-29982912
36	CEBPB	chrX:30080255-30080547	HepG2	liver:	n/a	chrX:30080380-30080391 chrX:30080381-30080392
37	CEBPB	chrX:29931744-29932148	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chrX:30005541-30005740	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chrX:30005540-30005744	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chrX:29929940-29930090	GM06990	blood:	n/a	n/a
41	CTCF	chrX:30078930-30079258	MCF-7	breast:	n/a	n/a
42	CTCF	chrX:30079259-30079290	GM10248	blood:	n/a	n/a
43	CTCF	chrX:30078940-30079090	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chrX:30078923-30079087	T-47D	breast:	n/a	n/a
45	CTCF	chrX:29929974-29929980	Medullo	brain:	n/a	n/a
46	CTCF	chrX:30078940-30079090	GM12874	blood:	n/a	n/a
47	CTCF	chrX:29958940-29959090	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chrX:30079000-30079150	GM12873	blood:	n/a	n/a
49	CTCF	chrX:30078948-30079151	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:30078960-30079110	HVMF	connective:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:29974011-29974061	GM12878	blood:	n/a
2	chrX:29974011-29974061	BE2_C	brain:	n/a
3	chrX:29974011-29974061	A549	lung:	n/a
4	chrX:29974011-29974061	Jurkat	blood:	n/a
5	chrX:29974011-29974061	BJ	skin:	n/a
6	chrX:29974011-29974061	HL-60	blood:	n/a
7	chrX:29974011-29974061	SK-N-SH_RA	brain:	n/a
8	chrX:29974011-29974061	H1-hESC	embryonic stem cell:	embryo
9	chrX:29974011-29974061	GM12892	blood:	n/a
10	chrX:29974011-29974061	AoSMC	blood vessel:	n/a
11	chrX:29974011-29974061	HRE	kidney:	n/a
12	chrX:29974011-29974061	AG04449	skin:	fetal
13	chrX:29974011-29974061	SAEC	small airway:	n/a
14	chrX:29974011-29974061	NHDF-neo	bronchial:	n/a
15	chrX:29974011-29974061	Hepatocyte	liver:	n/a
16	chrX:29974011-29974061	K562	blood:	n/a
17	chrX:29974011-29974061	HEEpiC	esophagus:	n/a
18	chrX:29974011-29974061	Caco-2	colon:	n/a
19	chrX:29974011-29974061	AG09319	gingival:	n/a
20	chrX:29974011-29974061	ProgFib	skin:	n/a
21	chrX:29974011-29974061	MCF10A-Er-Src	breast:	n/a
22	chrX:29974011-29974061	NH-A	brain:	n/a
23	chrX:29974011-29974061	RPTEC	kidney:	n/a
24	chrX:29974011-29974061	HCT-116	colon:	n/a
25	chrX:29974011-29974061	NT2-D1	testis:	n/a
26	chrX:29974011-29974061	HAEpiC	amniotic membrane:	n/a
27	chrX:29974011-29974061	HEK293	kidney:	embryo
28	chrX:29974011-29974061	HPAEpiC	pulmonary alveolar:	n/a
29	chrX:29974011-29974061	ECC-1	luminal epithelium:	n/a
30	chrX:29974011-29974061	GM06990	blood:	n/a
31	chrX:29974011-29974061	MCF-7	breast:	n/a
32	chrX:29974011-29974061	HRPEpiC	eye:	n/a
33	chrX:29974011-29974061	NHBE	bronchial:	n/a
34	chrX:29974011-29974061	HepG2	liver:	n/a
35	chrX:29974011-29974061	GM19239	blood:	n/a
36	chrX:29974011-29974061	HCF	heart:	n/a
37	chrX:29974011-29974061	GM12891	blood:	n/a
38	chrX:29974011-29974061	Hela-S3	cervix:	n/a
39	chrX:29974011-29974061	NB4	blood:	n/a
40	chrX:29974011-29974061	HCM	heart:	n/a
41	chrX:29974011-29974061	SKMC	muscle:	n/a
42	chrX:29974011-29974061	SK-N-MC	brain:	n/a
43	chrX:29974011-29974061	T-47D	breast:	n/a
44	chrX:29974011-29974061	IMR90	lung:	fetal
45	chrX:29974011-29974061	SK-N-SH	brain:	n/a
46	chrX:29974011-29974061	PrEC	prostate:	n/a
47	chrX:29974011-29974061	ovcar-3	ovarian:	n/a
48	chrX:29974011-29974061	LNCaP	prostate:	n/a
49	chrX:29974011-29974061	CMK	blood:	n/a
50	chrX:29974011-29974061	U87	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR0B1-2	chrX:29931995-29932360	NONHSAT136566
2	lnc-NR0B1-1	chrX:30035277-30035998	NONHSAT136567

Variant related genes	Relation type
PIGFP3	TF binding region
PIGFP3	CpG island

Extended variants
information (count: 1349 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141476802	chrX:29932015-29932016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577716022	chrX:29932017-29932018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532552945	chrX:29932027-29932028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143599303	chrX:29932123-29932124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs183554792	chrX:29932173-29932174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs545209375	chrX:29932234-29932235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188045673	chrX:29937236-29937237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200107521	chrX:29937410-29937411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191349601	chrX:29937444-29937445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145046946	chrX:29937522-29937523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149036577	chrX:29937556-29937557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528775215	chrX:29937572-29937573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143010850	chrX:29937577-29937578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12388789	chrX:29937688-29937689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34101474	chrX:29937694-29937695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7063049	chrX:29937851-29937852	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375016829	chrX:29938022-29938023	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199971765	chrX:29938180-29938181	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371275154	chrX:29938189-29938190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369557817	chrX:29938192-29938193	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200419221	chrX:29938193-29938194	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183925588	chrX:29938201-29938202	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs372256169	chrX:29938235-29938236	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374844839	chrX:29938252-29938253	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111532996	chrX:29938271-29938272	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113276262	chrX:29938420-29938421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192749441	chrX:29938518-29938519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12009276	chrX:29938868-29938869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185094599	chrX:29938869-29938870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565577767	chrX:29938887-29938888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6628482	chrX:29938931-29938932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373384304	chrX:29938936-29938937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377717927	chrX:29938941-29938942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371132681	chrX:29938946-29938947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376231741	chrX:29938950-29938951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368233447	chrX:29938955-29938956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370915070	chrX:29938970-29938971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552723782	chrX:29939059-29939060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138987028	chrX:29939289-29939290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190030220	chrX:29939300-29939301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141500576	chrX:29939361-29939362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570908283	chrX:29939432-29939433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374020287	chrX:29939456-29939457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377638221	chrX:29939473-29939474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150909362	chrX:29939590-29939591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138312558	chrX:29939787-29939788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149634899	chrX:29939864-29939865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181678758	chrX:29939865-29939866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532560710	chrX:29939866-29939867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184691911	chrX:29939880-29939881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Mental retardation	20613765	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Mental retardation	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29937200-29938400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chrX:29937200-29940200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chrX:29937200-29940400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chrX:29937400-29937800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chrX:29937400-29938000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chrX:29937400-29938600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chrX:29937400-29941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:29937800-29938000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:29937800-29938200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chrX:29938000-29938200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chrX:29938000-29938200	Enhancers	H9 Cell Line	embryonic stem cell
12	chrX:29938200-29938400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chrX:29938200-29941000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:29938400-29938800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chrX:29938400-29954200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chrX:29938600-29939000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chrX:29938800-29940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:29939000-29939200	Enhancers	H9 Cell Line	embryonic stem cell
19	chrX:29939000-29941000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chrX:29939800-29940800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chrX:29940200-29940600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chrX:29940600-29940800	Enhancers	H9 Cell Line	embryonic stem cell
23	chrX:29940600-29940800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chrX:29940800-29952800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chrX:29941000-29945000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chrX:29941000-29947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chrX:29941000-29952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chrX:29941800-29942000	Enhancers	Fetal Heart	heart
29	chrX:29942000-29943000	Enhancers	HUVEC	blood vessel
30	chrX:29944200-29945800	Enhancers	Fetal Heart	heart
31	chrX:29944400-29945600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chrX:29944800-29945800	Enhancers	Brain Hippocampus Middle	brain
33	chrX:29945000-29945600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chrX:29945800-29946200	Weak transcription	Fetal Heart	heart
35	chrX:29946200-29947000	Enhancers	Fetal Heart	heart
36	chrX:29947400-29947600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chrX:29952000-29952200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chrX:29952200-29952600	Enhancers	Fetal Intestine Small	intestine
39	chrX:29952200-29953200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chrX:29952200-29955200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chrX:29952800-29955600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chrX:29953000-29953400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chrX:29953000-29955400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chrX:29953200-29953400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chrX:29953200-29954000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chrX:29953200-29956000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chrX:29953200-29956000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chrX:29953400-29953600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chrX:29953400-29953800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chrX:29953400-29954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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