Variant report

Variant	nsv510833
Chromosome Location	chrX:56766001-56841737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2247)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chrX:56790124-56790541	GM12878	blood:	n/a	n/a
2	ATF2	chrX:56790827-56791243	GM12878	blood:	n/a	n/a
3	ATF2	chrX:56790757-56791316	GM12878	blood:	n/a	n/a
4	ATF3	chrX:56771415-56771798	HCT-116	colon:	n/a	n/a
5	ATF3	chrX:56771375-56771803	HCT-116	colon:	n/a	n/a
6	BATF	chrX:56794479-56795154	GM12878	blood:	n/a	n/a
7	BATF	chrX:56839721-56840063	GM12878	blood:	n/a	n/a
8	BATF	chrX:56805573-56805799	GM12878	blood:	n/a	n/a
9	BATF	chrX:56805283-56805958	GM12878	blood:	n/a	n/a
10	BATF	chrX:56788750-56789058	GM12878	blood:	n/a	n/a
11	BATF	chrX:56799881-56800556	GM12878	blood:	n/a	n/a
12	BATF	chrX:56794004-56794474	GM12878	blood:	n/a	n/a
13	BATF	chrX:56799455-56799777	GM12878	blood:	n/a	n/a
14	BATF	chrX:56804693-56805278	GM12878	blood:	n/a	n/a
15	BATF	chrX:56804857-56805179	GM12878	blood:	n/a	n/a
16	BATF	chrX:56799291-56799876	GM12878	blood:	n/a	n/a
17	BATF	chrX:56794060-56794375	GM12878	blood:	n/a	n/a
18	BATF	chrX:56794769-56794995	GM12878	blood:	n/a	n/a
19	BATF	chrX:56800171-56800397	GM12878	blood:	n/a	n/a
20	BCL11A	chrX:56804834-56805095	GM12878	blood:	n/a	n/a
21	BCL11A	chrX:56794463-56795166	GM12878	blood:	n/a	chrX:56794806-56794815 chrX:56794665-56794678
22	BCL11A	chrX:56794063-56794291	GM12878	blood:	n/a	n/a
23	BCL11A	chrX:56804598-56806030	GM12878	blood:	n/a	chrX:56804669-56804682 chrX:56805469-56805482 chrX:56805610-56805619
24	BCL11A	chrX:56799432-56799693	GM12878	blood:	n/a	n/a
25	BCL11A	chrX:56799196-56800628	GM12878	blood:	n/a	chrX:56800208-56800217 chrX:56800067-56800080 chrX:56799267-56799280
26	BCL11A	chrX:56805267-56805970	GM12878	blood:	n/a	chrX:56805469-56805482 chrX:56805610-56805619
27	BCL11A	chrX:56793982-56795226	GM12878	blood:	n/a	chrX:56794806-56794815 chrX:56794665-56794678
28	BCL11A	chrX:56799865-56800568	GM12878	blood:	n/a	chrX:56800208-56800217 chrX:56800067-56800080
29	BCLAF1	chrX:56809838-56810400	GM12878	blood:	n/a	chrX:56810049-56810058
30	BCLAF1	chrX:56790121-56790609	GM12878	blood:	n/a	chrX:56790419-56790428 chrX:56790418-56790427
31	BCLAF1	chrX:56829943-56830357	GM12878	blood:	n/a	n/a
32	BCLAF1	chrX:56829256-56829591	GM12878	blood:	n/a	n/a
33	BCLAF1	chrX:56809929-56810339	GM12878	blood:	n/a	chrX:56810049-56810058
34	BCLAF1	chrX:56790707-56791389	GM12878	blood:	n/a	chrX:56790930-56790939 chrX:56790789-56790802
35	BCLAF1	chrX:56790075-56791158	GM12878	blood:	n/a	chrX:56790419-56790428 chrX:56790418-56790427 chrX:56790930-56790939 chrX:56790789-56790802
36	BCLAF1	chrX:56829707-56830407	GM12878	blood:	n/a	chrX:56829754-56829762
37	BHLHE40	chrX:56839368-56839385	GM12878	blood:	n/a	n/a
38	BHLHE40	chrX:56829023-56829613	GM12878	blood:	n/a	n/a
39	BHLHE40	chrX:56839778-56840206	K562	blood:	n/a	n/a
40	BHLHE40	chrX:56828086-56828413	GM12878	blood:	n/a	n/a
41	BHLHE40	chrX:56829928-56830314	GM12878	blood:	n/a	n/a
42	BHLHE40	chrX:56818785-56819160	GM12878	blood:	n/a	n/a
43	BHLHE40	chrX:56791001-56791122	K562	blood:	n/a	n/a
44	BHLHE40	chrX:56788686-56792802	GM12878	blood:	n/a	n/a
45	BHLHE40	chrX:56815470-56815578	GM12878	blood:	n/a	n/a
46	BHLHE40	chrX:56839630-56840074	GM12878	blood:	n/a	n/a
47	BHLHE40	chrX:56810085-56810235	GM12878	blood:	n/a	n/a
48	BRCA1	chrX:56817186-56817302	GM12878	blood:	n/a	n/a
49	BRCA1	chrX:56821762-56821912	GM12878	blood:	n/a	n/a
50	BRCA1	chrX:56790863-56791056	GM12878	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:56839314..56842023-chrX:57019639..57021323,2	MCF-7	breast:
2	chrX:56814414..56817142-chrX:56827213..56829946,2	MCF-7	breast:
3	chrX:56809606..56814418-chrX:56815131..56818953,4	MCF-7	breast:
4	chrX:56784028..56786662-chrX:56837898..56840696,2	MCF-7	breast:
5	chrX:56830136..56831999-chrX:57005582..57007963,2	MCF-7	breast:
6	chrX:56816736..56818611-chrX:56825316..56827137,2	MCF-7	breast:
7	chrX:56820104..56822444-chrX:56825427..56828204,2	MCF-7	breast:
8	chrX:56820591..56822827-chrX:56824334..56826679,2	MCF-7	breast:
9	chrX:56790745..56791532-chrX:57002195..57003144,2	K562	blood:
10	chrX:56806832..56808536-chrX:56810379..56813330,2	MCF-7	breast:
11	chrX:56816736..56818611-chrX:56825316..56827137,2	MCF-7	breast:
12	chrX:56815404..56816431-chrX:57001867..57002525,3	MCF-7	breast:
13	chrX:56816463..56818432-chrX:56827430..56829351,2	MCF-7	breast:
14	chrX:56755952..56758658-chrX:56787740..56790221,2	MCF-7	breast:
15	chrX:56790522..56791427-chrX:57004320..57005681,3	MCF-7	breast:
16	chrX:56815042..56815706-chrX:57004646..57005228,2	MCF-7	breast:
17	chrX:56809606..56814418-chrX:56815131..56818953,4	MCF-7	breast:
18	chrX:56790021..56792634-chrX:56811164..56813731,2	MCF-7	breast:
19	chrX:56829971..56830601-chrX:57001746..57002383,2	MCF-7	breast:
20	chrX:56839755..56841638-chrX:56845784..56848486,2	K562	blood:
21	chrX:56830015..56830949-chrX:57004313..57005248,9	MCF-7	breast:
22	chrX:56790542..56791292-chrX:57182607..57183519,2	MCF-7	breast:
23	chrX:56784028..56786662-chrX:56837898..56840696,2	MCF-7	breast:
24	chrX:56790021..56792634-chrX:56811164..56813731,2	MCF-7	breast:
25	chrX:56815042..56815858-chrX:57555231..57555778,2	MCF-7	breast:
26	chrX:56816463..56818432-chrX:56827430..56829351,2	MCF-7	breast:
27	chrX:56820104..56822444-chrX:56825427..56828204,2	MCF-7	breast:
28	chrX:56820591..56822827-chrX:56824334..56826679,2	MCF-7	breast:
29	chrX:56814414..56817142-chrX:56827213..56829946,2	MCF-7	breast:
30	chrX:56806832..56808536-chrX:56810379..56813330,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPIN3-2	chrX:56825775-56826193	NONHSAT137277
2	lnc-SPIN3-2	chrX:56808673-56808686	NONHSAT137277
3	lnc-SPIN3-2	chrX:56808145-56808617	NONHSAT137277
4	lnc-SPIN3-2	chrX:56826891-56827336	NONHSAT137277
5	lnc-SPIN3-3	chrX:56790854-56790965	NONHSAT137276
6	lnc-UBQLN2-7	chrX:56775221-56775357	ucscGeneNc_uc004dut_2
7	lnc-SPIN3-2	chrX:56823800-56824231	NONHSAT137277
8	lnc-SPIN3-3	chrX:56789313-56789333	NONHSAT137276
9	lnc-SPIN3-2	chrX:56815479-56815983	NONHSAT137277
10	lnc-SPIN3-3	chrX:56788470-56788737	NONHSAT137276
11	lnc-SPIN3-3	chrX:56778876-56779216	NONHSAT137276
12	lnc-UBQLN2-7	chrX:56772443-56772747	ucscGeneNc_uc004dut_2

No data

Variant related genes	Relation type
UQCRBP1	TF binding region

Extended variants
information (count: 936 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:936 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570295737	chrX:56766036-56766037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5960204	chrX:56766044-56766045	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144893057	chrX:56766108-56766109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189739737	chrX:56766276-56766277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182322342	chrX:56766309-56766310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374342373	chrX:56766317-56766318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186636574	chrX:56766335-56766336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146711668	chrX:56766579-56766580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537705214	chrX:56766829-56766830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368710886	chrX:56767029-56767030	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73626218	chrX:56767035-56767036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556958988	chrX:56767092-56767093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190992907	chrX:56767138-56767139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369182595	chrX:56767179-56767180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183987294	chrX:56767314-56767315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188436080	chrX:56767388-56767389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556116740	chrX:56767392-56767393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193052206	chrX:56767393-56767394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372312673	chrX:56767440-56767441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs5960788	chrX:56767557-56767558	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184813852	chrX:56767617-56767618	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187321323	chrX:56767650-56767651	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191776044	chrX:56767691-56767692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs137999639	chrX:56767853-56767854	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149026748	chrX:56767935-56767936	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567616909	chrX:56767974-56767975	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145813436	chrX:56768048-56768049	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs5914779	chrX:56768230-56768231	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs183897048	chrX:56768374-56768375	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs188234058	chrX:56768476-56768477	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182190046	chrX:56768492-56768493	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373782383	chrX:56768706-56768707	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs185586946	chrX:56768818-56768819	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6612632	chrX:56768856-56768857	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs5914780	chrX:56769024-56769025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12689166	chrX:56769206-56769207	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190009393	chrX:56769256-56769257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181623794	chrX:56769327-56769328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185818456	chrX:56769430-56769431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201200118	chrX:56769464-56769465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188722714	chrX:56769680-56769681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77075330	chrX:56769957-56769958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5960789	chrX:56770130-56770131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181103596	chrX:56770222-56770223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185203276	chrX:56770388-56770389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189574171	chrX:56770424-56770425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183967959	chrX:56770465-56770466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149769610	chrX:56770544-56770545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187199590	chrX:56770601-56770602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367774455	chrX:56770721-56770722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	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
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2281 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56756000-56780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56757000-56766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:56757200-56766600	Weak transcription	Thymus	Thymus
4	chrX:56757200-56769200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chrX:56757200-56773800	Weak transcription	HSMM	muscle
6	chrX:56757200-56775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chrX:56757200-56777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chrX:56757400-56768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chrX:56757400-56771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:56757400-56779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chrX:56757400-56788000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chrX:56757400-56791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chrX:56757400-56793200	Weak transcription	NH-A	brain
14	chrX:56757400-56793400	Weak transcription	Fetal Intestine Large	intestine
15	chrX:56757600-56766600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chrX:56757600-56767600	Weak transcription	A549	lung
17	chrX:56757600-56767800	Weak transcription	Primary B cells from cord blood	blood
18	chrX:56757600-56779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chrX:56757600-56800000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chrX:56757800-56767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chrX:56757800-56788200	Weak transcription	Fetal Thymus	thymus
22	chrX:56758000-56773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chrX:56758400-56771200	Weak transcription	HUVEC	blood vessel
24	chrX:56758400-56780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chrX:56758400-56796200	Weak transcription	Brain Germinal Matrix	brain
26	chrX:56758600-56768200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chrX:56758600-56768400	Weak transcription	GM12878-XiMat	blood
28	chrX:56759800-56767000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chrX:56760800-56771400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chrX:56761600-56790400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chrX:56761800-56787600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chrX:56762000-56771200	Weak transcription	Hela-S3	cervix
33	chrX:56763000-56767800	Weak transcription	Fetal Muscle Trunk	muscle
34	chrX:56763200-56767200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chrX:56764000-56766400	Weak transcription	Fetal Stomach	stomach
36	chrX:56764400-56767000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chrX:56764600-56766200	Enhancers	HMEC	breast
38	chrX:56764800-56766200	Enhancers	Fetal Intestine Small	intestine
39	chrX:56765000-56767600	Weak transcription	Primary hematopoietic stem cells	blood
40	chrX:56765000-56767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chrX:56765200-56768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chrX:56765200-56769600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chrX:56765200-56771200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chrX:56765200-56772400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chrX:56765200-56783000	Weak transcription	Primary B cells from peripheral blood	blood
46	chrX:56765400-56767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chrX:56765400-56767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chrX:56765400-56768000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chrX:56765400-56771200	Weak transcription	NHEK	skin
50	chrX:56765400-56773400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

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