Variant report

Variant	esv2500763
Chromosome Location	chr6:147438783-147444969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:147440505-147440819	K562	blood:	n/a	chr6:147440639-147440650
2	CEBPB	chr6:147440484-147440794	IMR90	lung:	n/a	chr6:147440639-147440650
3	CEBPB	chr6:147440467-147440831	HepG2	liver:	n/a	chr6:147440639-147440650
4	CEBPB	chr6:147440482-147440806	A549	lung:	n/a	chr6:147440639-147440650
5	CTCF	chr6:147438860-147439010	BJ	skin:	n/a	n/a
6	EBF1	chr6:147438687-147439012	GM12878	blood:	n/a	chr6:147438853-147438863 chr6:147438852-147438863 chr6:147438853-147438862
7	IRF1	chr6:147440216-147440307	K562	blood:	n/a	n/a
8	IRF1	chr6:147440227-147440251	K562	blood:	n/a	n/a
9	IRF1	chr6:147438761-147439091	K562	blood:	n/a	chr6:147438922-147438933 chr6:147438922-147438935 chr6:147438922-147438935 chr6:147438921-147438941 chr6:147438923-147438933 chr6:147438915-147438935 chr6:147438917-147438927 chr6:147438919-147438933 chr6:147438922-147438936 chr6:147438917-147438931 chr6:147438923-147438937 chr6:147438922-147438935
10	JUN	chr6:147444058-147444327	HepG2	liver:	n/a	chr6:147444148-147444157 chr6:147444147-147444160
11	JUND	chr6:147443969-147444331	HepG2	liver:	n/a	chr6:147444148-147444157
12	MAFF	chr6:147444098-147444233	K562	blood:	n/a	n/a
13	MAX	chr6:147443818-147444046	NB4	blood:	n/a	chr6:147443889-147443899
14	SPI1	chr6:147439606-147440285	HL-60	blood:	n/a	n/a
15	SPI1	chr6:147439603-147440278	HL-60	blood:	n/a	n/a
16	STAT3	chr6:147443079-147443140	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr6:147441561-147441968	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147437032..147439799-chr6:147479756..147483330,3	K562	blood:
2	chr6:147443197..147445695-chr6:147447092..147449198,3	K562	blood:
3	chr6:147442930..147446294-chr6:147532679..147536475,3	K562	blood:
4	chr6:147444618..147448915-chr6:147522478..147526449,6	K562	blood:
5	chr6:147442873..147445423-chr6:147447092..147450084,3	K562	blood:
6	chr6:147444618..147450604-chr6:147522868..147525613,5	K562	blood:
7	chr6:147206418..147208548-chr6:147443169..147444927,2	K562	blood:
8	chr6:147420000..147421600-chr6:147444950..147446900,2	K562	blood:
9	chr6:147439196..147441349-chr6:147442627..147444720,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHPRH-2	chr6:147440553-147440613	ENSG00000233452
2	lnc-SHPRH-2	chr6:147440553-147440613	NONHSAT115441
3	lnc-SHPRH-2	chr6:147440553-147440613	ENSG00000233452
4	lnc-SHPRH-2	chr6:147440553-147440613	ENSG00000233452
5	lnc-SHPRH-2	chr6:147440553-147440599	ENSG00000233452
6	lnc-SHPRH-2	chr6:147440553-147440613	NONHSAT115433
7	lnc-SHPRH-2	chr6:147440553-147440613	ENSG00000233452

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000233452	chromatin interactions
ENSG00000164506	chromatin interactions
ENSG00000196634	chromatin interactions
HAND1	miRNA target sites
PPP1CB	miRNA target sites
TMEM161B	miRNA target sites
MTMR4	miRNA target sites
ADAM12	miRNA target sites

Extended variants
information (count: 227 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191999208	chr6:147438836-147438837	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142632242	chr6:147438848-147438849	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568246329	chr6:147438854-147438855	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182257469	chr6:147438934-147438935	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150954248	chr6:147438993-147438994	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185954370	chr6:147439058-147439059	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560334649	chr6:147439061-147439062	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529400492	chr6:147439065-147439066	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115883677	chr6:147439087-147439088	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201368718	chr6:147439201-147439202	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs397887761	chr6:147439213-147439214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78173673	chr6:147439214-147439215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190413401	chr6:147439235-147439236	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373326780	chr6:147439266-147439267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182652157	chr6:147439297-147439298	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550334854	chr6:147439319-147439320	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75153948	chr6:147439325-147439326	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570414170	chr6:147439372-147439373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76735722	chr6:147439380-147439381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539762168	chr6:147439408-147439409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186972805	chr6:147439435-147439436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113923139	chr6:147439475-147439476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191211458	chr6:147439512-147439513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182582570	chr6:147439553-147439554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187708414	chr6:147439561-147439562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75882437	chr6:147439595-147439596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150119359	chr6:147439597-147439598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552409713	chr6:147439612-147439613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557883004	chr6:147439613-147439614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193112701	chr6:147439623-147439624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540528202	chr6:147439625-147439626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550650045	chr6:147439630-147439631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569050406	chr6:147439660-147439661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560373869	chr6:147439674-147439675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529535136	chr6:147439681-147439682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183276430	chr6:147439702-147439703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187603099	chr6:147439714-147439715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530555628	chr6:147439720-147439721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550619304	chr6:147439777-147439778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570487319	chr6:147439813-147439814	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs375760477	chr6:147439815-147439816	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192083598	chr6:147439820-147439821	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566817954	chr6:147439838-147439839	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535716402	chr6:147439880-147439881	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548939246	chr6:147439881-147439882	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370105522	chr6:147439890-147439891	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373496831	chr6:147439903-147439904	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568998782	chr6:147439909-147439910	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184345594	chr6:147439928-147439929	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558184357	chr6:147439973-147439974	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147434800-147462800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:147437600-147439200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147438000-147439000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:147438000-147439000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:147438000-147439000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:147438000-147439200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr6:147438200-147439000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:147438200-147439400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:147438400-147439000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:147438400-147439000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:147438400-147439000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:147438400-147439000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:147438400-147439000	Active TSS	NHDF-Ad	bronchial
14	chr6:147438400-147439200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:147438400-147439200	Active TSS	Brain Angular Gyrus	brain
16	chr6:147438400-147439200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:147438400-147439400	Enhancers	Fetal Intestine Small	intestine
18	chr6:147438600-147439000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:147438600-147439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:147438600-147439000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:147438600-147439000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:147438600-147439000	Active TSS	Duodenum Mucosa	Duodenum
23	chr6:147438600-147439000	Active TSS	Ovary	ovary
24	chr6:147438600-147439000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:147438600-147439000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:147438600-147439000	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:147438600-147439000	Enhancers	Stomach Mucosa	stomach
28	chr6:147438600-147439200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:147438600-147439200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:147438600-147439400	Flanking Active TSS	Osteobl	bone
31	chr6:147438800-147439000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:147439000-147439200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:147439000-147439200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:147439000-147439200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:147439000-147439200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:147439000-147439200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:147439000-147439200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr6:147439000-147441400	Weak transcription	Ovary	ovary
39	chr6:147439200-147439400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:147439200-147439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:147439200-147439400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:147439200-147439800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:147439800-147440400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:147440400-147441000	Enhancers	Primary neutrophils fromperipheralblood	blood

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