Variant report

Variant	esv3509289
Chromosome Location	chr13:96461000-96505090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr13:96486435-96486799	GM12878	blood:	n/a	n/a
2	BHLHE40	chr13:96475604-96475649	HepG2	liver:	n/a	n/a
3	BRCA1	chr13:96486494-96486815	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr13:96502134-96502436	K562	blood:	n/a	n/a
5	CEBPB	chr13:96466817-96467058	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:96486491-96486798	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr13:96485176-96485688	Hela-S3	cervix:	n/a	chr13:96485484-96485497
8	CTCF	chr13:96486560-96486710	GM12867	blood:	n/a	n/a
9	CTCF	chr13:96474500-96474650	Caco-2	colon:	n/a	n/a
10	CTCF	chr13:96486540-96486690	NHLF	lung:	n/a	n/a
11	CTCF	chr13:96486560-96486710	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr13:96486520-96486670	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr13:96486518-96486738	GM13976	blood:	n/a	n/a
14	CTCF	chr13:96486520-96486670	HAc	cerebellar:	n/a	n/a
15	CTCF	chr13:96486560-96486710	GM12869	blood:	n/a	n/a
16	CTCF	chr13:96486485-96486761	GM19238	blood:	n/a	n/a
17	CTCF	chr13:96486540-96486690	GM12864	blood:	n/a	n/a
18	CTCF	chr13:96486640-96486790	MCF-7	breast:	n/a	n/a
19	CTCF	chr13:96486203-96487029	A549	lung:	n/a	n/a
20	CTCF	chr13:96486520-96486670	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr13:96486560-96486710	HCFaa	heart:	n/a	n/a
22	CTCF	chr13:96486483-96486778	Gliobla	brain:	n/a	n/a
23	CTCF	chr13:96486560-96486710	GM12872	blood:	n/a	n/a
24	CTCF	chr13:96486482-96486759	NHEK	skin:	n/a	n/a
25	CTCF	chr13:96486540-96486690	GM06990	blood:	n/a	n/a
26	CTCF	chr13:96486443-96486945	HCT-116	colon:	n/a	n/a
27	CTCF	chr13:96486580-96486730	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr13:96486580-96486730	K562	blood:	n/a	n/a
29	CTCF	chr13:96486560-96486710	HMEC	breast:	n/a	n/a
30	CTCF	chr13:96486580-96486730	GM12871	blood:	n/a	n/a
31	CTCF	chr13:96486560-96486710	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr13:96485992-96487054	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr13:96486496-96486762	ProgFib	skin:	n/a	n/a
34	CTCF	chr13:96486540-96486690	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr13:96486415-96486845	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:96486560-96486710	BE2_C	brain:	n/a	n/a
37	CTCF	chr13:96486508-96486765	GM10248	blood:	n/a	n/a
38	CTCF	chr13:96486541-96486738	GM20000	blood:	n/a	n/a
39	CTCF	chr13:96486520-96486670	HMEC	breast:	n/a	n/a
40	CTCF	chr13:96486413-96486849	GM12878	blood:	n/a	n/a
41	CTCF	chr13:96486560-96486710	GM12873	blood:	n/a	n/a
42	CTCF	chr13:96486560-96486710	RPTEC	kidney:	n/a	n/a
43	CTCF	chr13:96486560-96486710	GM12865	blood:	n/a	n/a
44	CTCF	chr13:96486520-96486670	HepG2	liver:	n/a	n/a
45	CTCF	chr13:96486540-96486690	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr13:96486560-96486710	K562	blood:	n/a	n/a
47	CTCF	chr13:96486560-96486710	SAEC	small airway:	n/a	n/a
48	CTCF	chr13:96486473-96486768	GM12878	blood:	n/a	n/a
49	CTCF	chr13:96486540-96486690	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr13:96486389-96486844	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:96275890..96276432-chr13:96486160..96486773,2	MCF-7	breast:
2	chr13:96471414..96473149-chr13:96476270..96478786,2	K562	blood:
3	chr13:96451195..96454586-chr13:96458825..96461447,3	K562	blood:
4	chr13:96452236..96454277-chr13:96468107..96470633,2	K562	blood:
5	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:
6	chr13:96471414..96473149-chr13:96476270..96478786,2	K562	blood:
7	chr13:96275906..96276854-chr13:96486114..96486980,5	K562	blood:
8	chr13:96488916..96491538-chr13:96492775..96495359,2	K562	blood:
9	chr13:96275895..96276755-chr13:96486107..96487061,4	MCF-7	breast:
10	chr13:96484418..96486030-chr13:96489191..96491096,2	MCF-7	breast:
11	chr13:96328293..96330323-chr13:96475800..96477548,2	MCF-7	breast:
12	chr13:96484418..96486030-chr13:96489191..96491096,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-6	chr13:96461564-96461861	NONHSAT034777

No data

Variant related genes	Relation type
HMGN1P24	TF binding region
ENSG00000247400	chromatin interactions
ENSG00000102580	chromatin interactions

Extended variants
information (count: 1603 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1603 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554060296	chr13:96461017-96461018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376875606	chr13:96461019-96461020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370420645	chr13:96461036-96461037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561697692	chr13:96461054-96461055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149368265	chr13:96461090-96461091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146304741	chr13:96461120-96461121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575721440	chr13:96461216-96461217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544284794	chr13:96461227-96461228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554559979	chr13:96461235-96461236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188355906	chr13:96461273-96461274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540528338	chr13:96461294-96461295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560375668	chr13:96461355-96461356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192140260	chr13:96461371-96461372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546426460	chr13:96461372-96461373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184504465	chr13:96461586-96461587	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531471788	chr13:96461666-96461667	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548276452	chr13:96461702-96461703	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs73556728	chr13:96461733-96461734	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368433081	chr13:96461741-96461742	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs188304488	chr13:96461776-96461777	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547404840	chr13:96461796-96461797	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570770929	chr13:96461821-96461822	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs71433097	chr13:96461824-96461825	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373589343	chr13:96461827-96461828	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527291393	chr13:96461835-96461836	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs539330498	chr13:96461838-96461839	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs556357598	chr13:96461880-96461881	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569717307	chr13:96461885-96461886	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537971432	chr13:96461886-96461887	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs192468038	chr13:96461888-96461889	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554597091	chr13:96461895-96461896	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574502876	chr13:96461916-96461917	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577192506	chr13:96462018-96462019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553879396	chr13:96462087-96462088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577496953	chr13:96462156-96462157	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546167061	chr13:96462159-96462160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184800793	chr13:96462162-96462163	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374043965	chr13:96462179-96462180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531762135	chr13:96462210-96462211	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367687094	chr13:96462218-96462219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370554861	chr13:96462311-96462312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35434279	chr13:96462360-96462361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7329687	chr13:96462383-96462384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527377389	chr13:96462403-96462404	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373955899	chr13:96462407-96462408	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113447155	chr13:96462437-96462438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533273279	chr13:96462496-96462497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188876109	chr13:96462513-96462514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7335888	chr13:96462529-96462530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182038216	chr13:96462530-96462531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96443800-96465600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:96443800-96466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:96444400-96461600	Weak transcription	Esophagus	oesophagus
4	chr13:96444400-96461800	Weak transcription	Ovary	ovary
5	chr13:96444400-96477600	Weak transcription	Brain Angular Gyrus	brain
6	chr13:96444400-96477600	Weak transcription	NHLF	lung
7	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
8	chr13:96445600-96461600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:96445600-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:96445600-96461800	Weak transcription	Pancreas	Pancrea
11	chr13:96445600-96477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:96445800-96461600	Weak transcription	Aorta	Aorta
13	chr13:96445800-96490000	Weak transcription	HepG2	liver
14	chr13:96446200-96461600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:96446200-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:96446200-96477400	Weak transcription	Gastric	stomach
17	chr13:96446400-96464800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:96446400-96466000	Weak transcription	NHEK	skin
19	chr13:96446800-96477400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:96446800-96477400	Weak transcription	HSMMtube	muscle
21	chr13:96447000-96461600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:96447200-96477400	Weak transcription	Osteobl	bone
23	chr13:96449000-96462400	Weak transcription	Hela-S3	cervix
24	chr13:96449000-96464800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:96450200-96461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
27	chr13:96452800-96466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:96453000-96461800	Weak transcription	Fetal Stomach	stomach
29	chr13:96455000-96467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:96456000-96461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:96457800-96461600	Weak transcription	HSMM	muscle
32	chr13:96458800-96462200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:96458800-96477400	Weak transcription	NH-A	brain
34	chr13:96459800-96462200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:96459800-96462400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:96460000-96462200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:96460400-96461000	Weak transcription	Left Ventricle	heart
38	chr13:96460400-96461600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:96460400-96477200	Weak transcription	A549	lung
40	chr13:96460400-96477400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:96460600-96461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:96460800-96461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:96461000-96461400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:96461000-96465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:96461200-96461400	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:96461400-96461600	Weak transcription	Colon Smooth Muscle	Colon
47	chr13:96461400-96461800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:96461400-96462000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:96461400-96462800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:96461600-96461800	ZNF genes & repeats	Colon Smooth Muscle	Colon

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