Variant report

Variant	esv3519397
Chromosome Location	chr13:95196826-95201400
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95201277..95201895-chr14:23475698..23476284,2	NB4	blood:
2	chr13:95201188..95204136-chr13:95209165..95210804,2	K562	blood:
3	chr13:95201195..95202043-chr8:134584450..134585018,2	Hela-S3	cervix:
4	chr13:95200940..95202785-chr13:95248237..95249753,2	MCF-7	breast:
5	chr1:249132382..249133235-chr13:95200903..95201419,2	Hela-S3	cervix:
6	chr13:95200681..95202256-chr13:95253004..95255314,2	K562	blood:
7	chr13:95201398..95202439-chr15:65596701..65597343,3	Hela-S3	cervix:
8	chr12:46121170..46122152-chr13:95200686..95201507,2	Hela-S3	cervix:
9	chr13:95201215..95201873-chr8:67834925..67835805,2	NB4	blood:
10	chr13:95188685..95191659-chr13:95200343..95202520,3	K562	blood:
11	chr13:95200950..95203234-chr13:95251840..95253410,2	MCF-7	breast:
12	chr13:95200681..95202448-chr13:95253004..95255779,2	K562	blood:
13	chr13:95189667..95191173-chr13:95200672..95202782,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TGDS-1	chr13:95200354-95201818	NONHSAT034727

No data

Variant related genes	Relation type
ENSG00000273015	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000152749	chromatin interactions
ENSG00000171161	chromatin interactions
ENSG00000088451	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550691800	chr13:95196864-95196865	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374387896	chr13:95196870-95196871	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140838663	chr13:95196948-95196949	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113151318	chr13:95196958-95196959	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35996869	chr13:95196985-95196986	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34963102	chr13:95197000-95197001	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144683721	chr13:95197008-95197009	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546285667	chr13:95197113-95197114	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567042313	chr13:95197121-95197122	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7317381	chr13:95197172-95197173	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9561623	chr13:95197183-95197184	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs115784276	chr13:95197187-95197188	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544934467	chr13:95197229-95197230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554247117	chr13:95197253-95197254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8002991	chr13:95197273-95197274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539908946	chr13:95197303-95197304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74606940	chr13:95197304-95197305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77966214	chr13:95197307-95197308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74503981	chr13:95197308-95197309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78667445	chr13:95197309-95197310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559841125	chr13:95197342-95197343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111551501	chr13:95197346-95197347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371313180	chr13:95197390-95197391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545603074	chr13:95197391-95197392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562745208	chr13:95197422-95197423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78761946	chr13:95197425-95197426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181682071	chr13:95197430-95197431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548497196	chr13:95197437-95197438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80068860	chr13:95197468-95197469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561152795	chr13:95197583-95197584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530138873	chr13:95197632-95197633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530035614	chr13:95197695-95197696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186842386	chr13:95197705-95197706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75544354	chr13:95197794-95197795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539174303	chr13:95197803-95197804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566480617	chr13:95197855-95197856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192041982	chr13:95197861-95197862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532070109	chr13:95197876-95197877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374640614	chr13:95197934-95197935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538143690	chr13:95197936-95197937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117135323	chr13:95198001-95198002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55986110	chr13:95198017-95198018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370177253	chr13:95198027-95198028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150402673	chr13:95198043-95198044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145430942	chr13:95198065-95198066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545541651	chr13:95198095-95198096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562526621	chr13:95198123-95198124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78981036	chr13:95198168-95198169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115367611	chr13:95198190-95198191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34409479	chr13:95198237-95198238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95188600-95200000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr13:95188800-95200200	Weak transcription	Primary T cells from cord blood	blood
3	chr13:95195400-95198800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:95195600-95197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:95195600-95200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:95195800-95198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:95195800-95200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:95196400-95197200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:95196400-95197200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:95196400-95200800	Weak transcription	Pancreas	Pancrea
11	chr13:95196600-95197000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr13:95196600-95200400	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:95196800-95200600	Weak transcription	Fetal Stomach	stomach
14	chr13:95197000-95199600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:95197200-95198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:95197200-95198200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:95197200-95200800	Weak transcription	Right Atrium	heart
18	chr13:95197400-95198600	Weak transcription	Thymus	Thymus
19	chr13:95197600-95199400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:95197600-95200400	Weak transcription	Brain Anterior Caudate	brain
21	chr13:95197800-95198200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr13:95197800-95199000	Enhancers	Fetal Intestine Large	intestine
23	chr13:95197800-95199000	Enhancers	Fetal Intestine Small	intestine
24	chr13:95197800-95199200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:95197800-95199200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:95197800-95199200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:95197800-95199400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:95197800-95200800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:95198000-95199000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:95198000-95199400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr13:95198000-95199400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:95198200-95198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:95198200-95199000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95198200-95199000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:95198200-95199200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr13:95198200-95199200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:95198200-95199200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr13:95198200-95199200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr13:95198200-95199200	Enhancers	HepG2	liver
40	chr13:95198400-95198600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr13:95198400-95199400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:95198400-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:95198400-95199400	Enhancers	Placenta	Placenta
44	chr13:95198600-95198800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:95198600-95198800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr13:95198600-95198800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr13:95198600-95198800	Enhancers	Thymus	Thymus
48	chr13:95198600-95199200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:95198600-95200600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:95198800-95199000	Enhancers	Primary T cells fromperipheralblood	blood

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