Variant report

Variant	esv3398856
Chromosome Location	chr13:97990623-97992426
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:97887496..97890340-chr13:97991017..97992548,2	K562	blood:
2	chr13:97992068..97993792-chr13:97995269..97997609,2	K562	blood:
3	chr13:97907616..97910279-chr13:97990865..97992598,2	MCF-7	breast:
4	chr13:97985220..97987596-chr13:97990645..97993198,3	K562	blood:
5	chr13:97963342..97965987-chr13:97989189..97990834,2	K562	blood:
6	chr13:97992267..97994078-chr13:98009808..98011602,2	K562	blood:
7	chr13:97990074..97993792-chr13:97995202..97997609,3	K562	blood:
8	chr13:97874621..97876610-chr13:97992365..97995159,3	MCF-7	breast:

No data

Extended variants
information (count: 124 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181676214	chr13:97990697-97990698	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375131038	chr13:97990699-97990700	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186840615	chr13:97990710-97990711	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191680006	chr13:97990742-97990743	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540593357	chr13:97990782-97990783	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557352951	chr13:97990838-97990839	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552317962	chr13:97990860-97990861	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546486059	chr13:97990861-97990862	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181109099	chr13:97990862-97990863	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562932087	chr13:97990873-97990874	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531960015	chr13:97990893-97990894	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541942389	chr13:97990903-97990904	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs59036109	chr13:97990910-97990911	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571176379	chr13:97990959-97990960	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540109838	chr13:97990977-97990978	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568970784	chr13:97991017-97991018	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs556546058	chr13:97991057-97991058	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs547764374	chr13:97991058-97991059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs570865278	chr13:97991060-97991061	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs533066509	chr13:97991098-97991099	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs115856964	chr13:97991111-97991112	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs185515056	chr13:97991144-97991145	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs17301432	chr13:97991179-97991180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs74663940	chr13:97991209-97991210	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs189689176	chr13:97991213-97991214	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs555574465	chr13:97991228-97991229	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs202246414	chr13:97991270-97991271	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs376426058	chr13:97991280-97991281	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs72637471	chr13:97991294-97991295	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs369231213	chr13:97991306-97991307	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs370868472	chr13:97991326-97991327	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs374244559	chr13:97991333-97991334	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs368387484	chr13:97991337-97991338	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs371123263	chr13:97991338-97991339	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs386773671	chr13:97991342-97991343	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs374306830	chr13:97991343-97991344	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs367575396	chr13:97991344-97991345	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs386773672	chr13:97991346-97991347	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs372240592	chr13:97991352-97991353	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs115908796	chr13:97991356-97991357	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs111140747	chr13:97991360-97991361	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs386773673	chr13:97991361-97991362	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs114189155	chr13:97991362-97991363	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs368425429	chr13:97991368-97991369	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs376899423	chr13:97991370-97991371	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs386773674	chr13:97991371-97991372	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs369018321	chr13:97991374-97991375	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs113066780	chr13:97991377-97991378	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs372367108	chr13:97991381-97991382	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs201614480	chr13:97991387-97991388	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
2	chr13:97962000-97991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:97967400-97991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:97971600-97991400	Weak transcription	Stomach Mucosa	stomach
5	chr13:97971800-97991800	Weak transcription	Small Intestine	intestine
6	chr13:97980800-97991800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:97981000-97991400	Weak transcription	HMEC	breast
8	chr13:97981000-97998800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:97981200-97991400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:97982000-97991400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:97982000-98002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:97982000-98009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:97982200-97991200	Weak transcription	Fetal Kidney	kidney
14	chr13:97982600-97991200	Weak transcription	K562	blood
15	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:97983000-97991200	Weak transcription	Fetal Heart	heart
17	chr13:97984000-98000800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr13:97984400-97992400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:97985000-97991400	Weak transcription	GM12878-XiMat	blood
20	chr13:97985600-97992800	Strong transcription	HepG2	liver
21	chr13:97985800-97992000	Strong transcription	Primary B cells from cord blood	blood
22	chr13:97986200-97991600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr13:97986200-98003200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:97986400-97991200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:97986400-97991200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:97986400-97991400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr13:97986400-97992000	Strong transcription	Primary T cells from cord blood	blood
28	chr13:97986400-97992400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:97986600-97991400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr13:97986600-97991600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr13:97986600-97998400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:97986800-97991400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr13:97987000-97991200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:97987200-97991400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr13:97987200-97991400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:97987400-97991000	Strong transcription	Placenta	Placenta
37	chr13:97987400-97991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:97987600-97991600	Strong transcription	Fetal Intestine Small	intestine
39	chr13:97987800-97990800	Strong transcription	Fetal Stomach	stomach
40	chr13:97987800-97991000	Weak transcription	NHLF	lung
41	chr13:97987800-97991400	Weak transcription	A549	lung
42	chr13:97988000-97991200	Strong transcription	Adipose Nuclei	Adipose
43	chr13:97988000-97991200	Weak transcription	NHDF-Ad	bronchial
44	chr13:97988000-97991400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:97988000-97991400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr13:97988000-97992200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:97988200-97991200	Weak transcription	NHEK	skin
48	chr13:97988200-97991400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:97988200-97991400	Strong transcription	Osteobl	bone
50	chr13:97988200-97992200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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