Variant report

Variant	esv3483550
Chromosome Location	chr9:72042632-72045830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:72044969-72045003	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr9:72043360-72043510	K562	blood:	n/a	n/a
3	CTCF	chr9:72043403-72043515	GM19239	blood:	n/a	n/a
4	CTCF	chr9:72043378-72043557	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:72043392-72043549	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:72043396-72043519	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:72044680-72044830	GM12872	blood:	n/a	n/a
8	CTCF	chr9:72043380-72043530	GM12875	blood:	n/a	n/a
9	CTCF	chr9:72043395-72043538	MCF-7	breast:	n/a	n/a
10	CTCF	chr9:72043340-72043490	HEK293	kidney:	n/a	n/a
11	CTCF	chr9:72043377-72043603	K562	blood:	n/a	n/a
12	CTCF	chr9:72043362-72043531	GM12878	blood:	n/a	n/a
13	CTCF	chr9:72043393-72043541	GM12892	blood:	n/a	n/a
14	CTCF	chr9:72043412-72043545	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:72043452-72043487	GM12878	blood:	n/a	n/a
16	CTCF	chr9:72043330-72043558	K562	blood:	n/a	n/a
17	CTCF	chr9:72043384-72043562	K562	blood:	n/a	n/a
18	CTCF	chr9:72043408-72043530	K562	blood:	n/a	n/a
19	CTCF	chr9:72043423-72043514	GM12891	blood:	n/a	n/a
20	CTCF	chr9:72043428-72043517	GM19238	blood:	n/a	n/a
21	CTCF	chr9:72043400-72043534	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:72043426-72043504	A549	lung:	n/a	n/a
23	CTCF	chr9:72043360-72043510	HUVEC	blood vessel:	n/a	n/a
24	MAFK	chr9:72045749-72045945	HepG2	liver:	n/a	n/a
25	RAD21	chr9:72043206-72043674	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr9:72043229-72043613	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr9:72043340-72043585	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr9:72043336-72043662	MCF-7	breast:	n/a	n/a
29	RAD21	chr9:72043367-72043489	HepG2	liver:	n/a	n/a
30	RAD21	chr9:72043243-72043681	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72044312..72045985-chr9:72046714..72048470,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-1	chr9:72043164-72043467	ENSG00000243888
2	lnc-APBA1-1	chr9:72043544-72043637	ENSG00000243888
3	lnc-APBA1-1	chr9:72042449-72044751	NONHSAT131778

No data

Variant related genes	Relation type
ENSG00000243888	TF binding region

Extended variants
information (count: 126 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562478573	chr9:72042668-72042669	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149737928	chr9:72042748-72042749	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569310702	chr9:72042768-72042769	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs1761283	chr9:72042770-72042771	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192960740	chr9:72042771-72042772	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs184828343	chr9:72042811-72042812	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78225245	chr9:72042847-72042848	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527457291	chr9:72042905-72042906	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547084588	chr9:72042910-72042911	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs140917011	chr9:72042945-72042946	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377215704	chr9:72042948-72042949	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs529331581	chr9:72042977-72042978	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs150189310	chr9:72043011-72043012	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569610164	chr9:72043013-72043014	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs540133857	chr9:72043014-72043015	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558120363	chr9:72043015-72043016	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189774936	chr9:72043017-72043018	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs367915196	chr9:72043039-72043040	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555468474	chr9:72043040-72043041	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs573640245	chr9:72043041-72043042	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs543846076	chr9:72043057-72043058	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191238268	chr9:72043065-72043066	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs78206416	chr9:72043066-72043067	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs534227023	chr9:72043100-72043101	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554043008	chr9:72043101-72043102	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs374472731	chr9:72043128-72043129	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs544914468	chr9:72043142-72043143	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs560157012	chr9:72043183-72043184	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs527499366	chr9:72043198-72043199	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs542433576	chr9:72043258-72043259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572792792	chr9:72043267-72043268	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183828901	chr9:72043268-72043269	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs1761293	chr9:72043280-72043281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372953751	chr9:72043281-72043282	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs11138596	chr9:72043287-72043288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552073605	chr9:72043321-72043322	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs567032927	chr9:72043417-72043418	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs374868783	chr9:72043475-72043476	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs138961909	chr9:72043506-72043507	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs555674543	chr9:72043571-72043572	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs149430122	chr9:72043637-72043638	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs181979608	chr9:72043687-72043688	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs544290516	chr9:72043750-72043751	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs147521034	chr9:72043752-72043753	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555801568	chr9:72043773-72043774	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs138446518	chr9:72043831-72043832	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs368475815	chr9:72043844-72043845	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs111768502	chr9:72043930-72043931	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs148885573	chr9:72044033-72044034	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs544647814	chr9:72044037-72044038	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72036200-72043000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:72036800-72045200	Weak transcription	Fetal Brain Female	brain
4	chr9:72037200-72046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:72037200-72048600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:72037200-72055600	Weak transcription	Fetal Lung	lung
7	chr9:72037200-72056200	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:72037400-72045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:72037600-72044800	Weak transcription	Fetal Stomach	stomach
10	chr9:72037600-72046600	Weak transcription	Fetal Kidney	kidney
11	chr9:72039600-72043200	Enhancers	Brain Hippocampus Middle	brain
12	chr9:72039800-72043000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:72039800-72043400	Enhancers	Brain Angular Gyrus	brain
14	chr9:72039800-72043400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:72040400-72045200	Weak transcription	Brain Germinal Matrix	brain
16	chr9:72040400-72046600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:72040600-72043600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:72040600-72045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72040800-72046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:72040800-72057400	Weak transcription	Fetal Heart	heart
21	chr9:72041000-72043400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:72041000-72045400	Weak transcription	Ovary	ovary
23	chr9:72041200-72069600	Weak transcription	Gastric	stomach
24	chr9:72041400-72043200	Enhancers	Brain Substantia Nigra	brain
25	chr9:72041600-72049400	Strong transcription	Liver	Liver
26	chr9:72041800-72045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:72041800-72046600	Weak transcription	Adipose Nuclei	Adipose
28	chr9:72042000-72045400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:72042000-72070400	Weak transcription	Spleen	Spleen
30	chr9:72042200-72043000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72042400-72043000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:72042400-72046600	Weak transcription	Brain Anterior Caudate	brain
33	chr9:72042600-72046200	Weak transcription	Aorta	Aorta
34	chr9:72042600-72048000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:72042800-72046600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:72042800-72063800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:72043000-72043400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:72043000-72043400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:72043000-72043800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:72043000-72046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:72043200-72043400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:72043200-72043600	Genic enhancers	Brain Hippocampus Middle	brain
43	chr9:72043200-72063800	Weak transcription	Brain Substantia Nigra	brain
44	chr9:72043400-72044000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:72043400-72045800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:72043400-72055400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:72043400-72055600	Weak transcription	Brain Angular Gyrus	brain
48	chr9:72043600-72045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:72043600-72045000	Weak transcription	Brain Hippocampus Middle	brain
50	chr9:72043600-72046800	Weak transcription	Brain Inferior Temporal Lobe	brain

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