Variant report

Variant	nsv534648
Chromosome Location	chrX:56306570-56395419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:56308372..56311065-chrX:56311411..56313857,2	MCF-7	breast:
2	chrX:56309340..56311634-chrX:56589348..56591185,2	MCF-7	breast:
3	chrX:56307984..56308796-chrX:56488568..56489439,3	MCF-7	breast:
4	chrX:56308361..56308892-chrX:56752872..56753378,2	K562	blood:
5	chrX:56308372..56311065-chrX:56311411..56313857,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF8-2	chrX:56312985-56315265	NONHSAT137266
2	lnc-KLF8-1	chrX:56316470-56317510	XLOC_007993
3	lnc-KLF8-3	chrX:56342401-56342490	l_3919_chrX:56333921-56342490_thyroid
4	lnc-SPIN3-5	chrX:56312110-56312246	NONHSAT137265
5	lnc-KLF8-3	chrX:56333922-56334235	l_3919_chrX:56333921-56342490_thyroid
6	lnc-KLF8-1	chrX:56325676-56325981	XLOC_007993
7	lnc-SPIN3-5	chrX:56311188-56311820	NONHSAT137265

No data

Variant related genes	Relation type
ENSG00000188021	chromatin interactions

Extended variants
information (count: 877 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375845280	chrX:56306619-56306620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370189088	chrX:56306640-56306641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373645896	chrX:56306650-56306651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368912892	chrX:56306858-56306859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184675414	chrX:56306863-56306864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189815542	chrX:56307670-56307671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556677063	chrX:56307676-56307677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141618821	chrX:56307677-56307678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374593089	chrX:56307795-56307796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574924411	chrX:56307907-56307908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35725948	chrX:56307908-56307909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181461546	chrX:56307918-56307919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377698336	chrX:56307935-56307936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138392479	chrX:56308091-56308092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370378720	chrX:56308132-56308133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186570518	chrX:56308205-56308206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190623785	chrX:56308208-56308209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559182103	chrX:56308241-56308242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180905691	chrX:56308334-56308335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186144636	chrX:56308443-56308444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190996345	chrX:56308452-56308453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182829851	chrX:56308456-56308457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187507195	chrX:56308491-56308492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375351098	chrX:56308591-56308592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149420053	chrX:56308646-56308647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147537121	chrX:56308678-56308679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370623596	chrX:56308725-56308726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191402675	chrX:56308791-56308792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182776269	chrX:56308908-56308909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188290681	chrX:56308950-56308951	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73490557	chrX:56309062-56309063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183903195	chrX:56309197-56309198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187844066	chrX:56309274-56309275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192669943	chrX:56309447-56309448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34052767	chrX:56309477-56309478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34653261	chrX:56309519-56309520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184529848	chrX:56309655-56309656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368354102	chrX:56309891-56309892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189810483	chrX:56310021-56310022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76763916	chrX:56310112-56310113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372254744	chrX:56310122-56310123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554506111	chrX:56310302-56310303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376881058	chrX:56310316-56310317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182014600	chrX:56310390-56310391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184612387	chrX:56310680-56310681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201887872	chrX:56310919-56310920	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189932828	chrX:56311198-56311199	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs111707170	chrX:56311225-56311226	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs180763703	chrX:56311261-56311262	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs185205982	chrX:56311316-56311317	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	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
Premature ovarian failure	20952765	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
Mental retardation	21735175	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56259800-56316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56269400-56320200	Weak transcription	Brain Germinal Matrix	brain
3	chrX:56275000-56316200	Weak transcription	Colon Smooth Muscle	Colon
4	chrX:56279200-56310800	Weak transcription	Aorta	Aorta
5	chrX:56279400-56316800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chrX:56280400-56320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chrX:56286000-56336600	Weak transcription	Left Ventricle	heart
8	chrX:56290200-56314400	Weak transcription	Fetal Intestine Small	intestine
9	chrX:56291000-56312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:56292200-56310800	Weak transcription	Fetal Stomach	stomach
11	chrX:56292400-56310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chrX:56297200-56310800	Weak transcription	Ovary	ovary
13	chrX:56297400-56316800	Weak transcription	Primary B cells from peripheral blood	blood
14	chrX:56297600-56316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chrX:56298600-56314800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chrX:56301800-56319000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chrX:56305000-56308800	Weak transcription	Adipose Nuclei	Adipose
18	chrX:56305000-56313000	Weak transcription	Esophagus	oesophagus
19	chrX:56305200-56316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chrX:56307400-56310800	Weak transcription	Stomach Smooth Muscle	stomach
21	chrX:56307400-56311400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chrX:56308400-56309000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chrX:56308400-56309000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chrX:56308600-56309000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chrX:56308600-56309000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chrX:56308800-56309400	Strong transcription	Adipose Nuclei	Adipose
27	chrX:56309200-56318000	Weak transcription	Primary B cells from cord blood	blood
28	chrX:56309400-56310000	Weak transcription	Adipose Nuclei	Adipose
29	chrX:56309400-56316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chrX:56309800-56314000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chrX:56310000-56312200	Strong transcription	Adipose Nuclei	Adipose
32	chrX:56310600-56312000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chrX:56310800-56311000	ZNF genes & repeats	Aorta	Aorta
34	chrX:56310800-56311000	Strong transcription	Fetal Stomach	stomach
35	chrX:56310800-56312000	Strong transcription	Ovary	ovary
36	chrX:56310800-56312000	Strong transcription	Stomach Smooth Muscle	stomach
37	chrX:56310800-56312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chrX:56311000-56316000	Weak transcription	Fetal Stomach	stomach
39	chrX:56311000-56319600	Weak transcription	Aorta	Aorta
40	chrX:56311200-56314800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chrX:56312000-56314400	Weak transcription	Ovary	ovary
42	chrX:56312000-56315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chrX:56312000-56318400	Weak transcription	Stomach Smooth Muscle	stomach
44	chrX:56312000-56320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chrX:56312200-56316400	Weak transcription	Adipose Nuclei	Adipose
46	chrX:56312400-56319000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chrX:56312800-56315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:56314400-56315400	ZNF genes & repeats	Ovary	ovary
49	chrX:56314800-56315200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chrX:56314800-56316800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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