Variant report

Variant	esv1825149
Chromosome Location	chr6:102249515-102279200
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	BATF	chr6:102254134-102254370	GM12878	blood:	n/a	n/a
2	BATF	chr6:102254089-102254353	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:102278474-102278651	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:102274680-102274946	H1-hESC	embryonic stem cell:	n/a	chr6:102274824-102274835 chr6:102274826-102274837 chr6:102274826-102274835
5	CEBPB	chr6:102274644-102275015	IMR90	lung:	n/a	chr6:102274824-102274835 chr6:102274826-102274837 chr6:102274826-102274835
6	CEBPB	chr6:102274727-102274964	A549	lung:	n/a	chr6:102274824-102274835 chr6:102274826-102274837 chr6:102274826-102274835
7	CEBPB	chr6:102274656-102275007	HepG2	liver:	n/a	chr6:102274824-102274835 chr6:102274826-102274837 chr6:102274826-102274835
8	CTCF	chr6:102255040-102255190	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr6:102271818-102271890	GM10248	blood:	n/a	n/a
10	E2F4	chr6:102270125-102270408	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr6:102278591-102278648	GM12878	blood:	n/a	n/a
12	EP300	chr6:102254085-102254477	SK-N-SH_RA	brain:	n/a	chr6:102254120-102254134
13	EP300	chr6:102251052-102251444	SK-N-SH	brain:	n/a	n/a
14	EP300	chr6:102253891-102254671	SK-N-SH	brain:	n/a	chr6:102254120-102254134
15	EP300	chr6:102254044-102254481	SK-N-SH_RA	brain:	n/a	chr6:102254120-102254134
16	EP300	chr6:102253962-102254787	SK-N-SH	brain:	n/a	chr6:102254120-102254134
17	FOS	chr6:102266391-102266504	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr6:102278747-102278756	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:102253867-102254879	HUVEC	blood vessel:	n/a	n/a
20	FOSL2	chr6:102251008-102251481	SK-N-SH	brain:	n/a	chr6:102251286-102251297 chr6:102251285-102251293 chr6:102251283-102251295 chr6:102251285-102251292
21	FOSL2	chr6:102253891-102254683	SK-N-SH	brain:	n/a	n/a
22	GATA2	chr6:102253957-102254711	HUVEC	blood vessel:	n/a	chr6:102254537-102254553 chr6:102254114-102254124 chr6:102254537-102254553 chr6:102254540-102254550
23	GATA3	chr6:102258878-102259383	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr6:102258850-102259290	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr6:102253920-102254797	SK-N-SH	brain:	n/a	chr6:102254537-102254553 chr6:102254114-102254124 chr6:102254537-102254553 chr6:102254540-102254550
26	GATA3	chr6:102251035-102251212	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr6:102253806-102254890	SK-N-SH	brain:	n/a	chr6:102254537-102254553 chr6:102254114-102254124 chr6:102254537-102254553 chr6:102254540-102254550
28	GATA3	chr6:102278185-102279025	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr6:102250947-102251555	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr6:102251005-102251425	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr6:102277947-102279158	SK-N-SH	brain:	n/a	n/a
32	JUND	chr6:102253968-102254589	SK-N-SH	brain:	n/a	n/a
33	JUND	chr6:102272980-102273180	HepG2	liver:	n/a	chr6:102273056-102273066 chr6:102273056-102273066 chr6:102273056-102273066 chr6:102273056-102273065 chr6:102273055-102273066 chr6:102273056-102273066
34	JUND	chr6:102273016-102273183	H1-hESC	embryonic stem cell:	n/a	chr6:102273056-102273066 chr6:102273056-102273066 chr6:102273056-102273066 chr6:102273056-102273065 chr6:102273055-102273066 chr6:102273056-102273066
35	JUND	chr6:102253944-102254664	SK-N-SH	brain:	n/a	n/a
36	MEF2A	chr6:102254027-102254560	SK-N-SH	brain:	n/a	chr6:102254516-102254524
37	NFIC	chr6:102278094-102278468	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr6:102253884-102254761	SK-N-SH	brain:	n/a	chr6:102253885-102253913
39	NFIC	chr6:102253961-102254458	GM12878	blood:	n/a	n/a
40	PBX3	chr6:102253925-102254740	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr6:102278114-102278694	SK-N-SH	brain:	n/a	n/a
42	PBX3	chr6:102251073-102251466	SK-N-SH	brain:	n/a	n/a
43	PBX3	chr6:102253973-102254629	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr6:102254073-102254548	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr6:102259041-102259318	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr6:102266343-102266471	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr6:102254037-102254810	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr6:102264332-102264451	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:102260346-102260566	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:102258988-102259309	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:102270226..102272890-chr6:102273538..102276140,2	K562	blood:
2	chr6:102270226..102272890-chr6:102273538..102276140,2	K562	blood:

Variant related genes	Relation type
GRIK2	TF binding region

Extended variants
information (count: 837 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12333116	chr6:102249515-102249516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182609364	chr6:102249531-102249532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187345030	chr6:102249567-102249568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143281515	chr6:102249568-102249569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148257297	chr6:102249681-102249682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35321796	chr6:102249697-102249698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192724196	chr6:102249745-102249746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562778593	chr6:102249753-102249754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574636320	chr6:102249767-102249768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546718770	chr6:102249768-102249769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542070555	chr6:102249832-102249833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114143798	chr6:102249833-102249834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528564925	chr6:102249840-102249841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540751495	chr6:102249847-102249848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565133121	chr6:102249851-102249852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532411423	chr6:102249859-102249860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550822834	chr6:102249957-102249958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182651677	chr6:102249966-102249967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530197214	chr6:102249987-102249988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548477835	chr6:102250008-102250009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113483766	chr6:102250011-102250012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565926782	chr6:102250077-102250078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373827303	chr6:102250159-102250160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370345986	chr6:102250171-102250172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187655348	chr6:102250175-102250176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370343505	chr6:102250177-102250178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373961942	chr6:102250186-102250187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368408574	chr6:102250211-102250212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555425016	chr6:102250248-102250249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148876893	chr6:102250252-102250253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145563772	chr6:102250275-102250276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138087659	chr6:102250286-102250287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371912771	chr6:102250302-102250303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542632846	chr6:102250326-102250327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559435892	chr6:102250331-102250332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193226560	chr6:102250341-102250342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184805269	chr6:102250366-102250367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372369154	chr6:102250487-102250488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574802695	chr6:102250512-102250513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142366389	chr6:102250541-102250542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113139607	chr6:102250549-102250550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55846400	chr6:102250602-102250603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77522732	chr6:102250776-102250777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149279633	chr6:102250819-102250820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144495678	chr6:102250828-102250829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9322609	chr6:102250847-102250848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188878791	chr6:102250863-102250864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9498712	chr6:102250872-102250873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148771984	chr6:102250927-102250928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144784847	chr6:102251066-102251067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102249000-102251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:102249000-102253600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:102250600-102251800	Enhancers	NH-A	brain
4	chr6:102250800-102251400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:102251000-102251200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:102251200-102251600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:102251400-102253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:102251600-102251800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:102251800-102253400	Weak transcription	NH-A	brain
10	chr6:102251800-102253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:102253400-102253600	Enhancers	NH-A	brain
12	chr6:102253600-102254200	Flanking Active TSS	NH-A	brain
13	chr6:102253600-102254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:102253600-102254400	Enhancers	Osteobl	bone
15	chr6:102253600-102256000	Enhancers	HMEC	breast
16	chr6:102253600-102256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:102253600-102256200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:102253800-102254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:102253800-102254400	Enhancers	HSMM	muscle
20	chr6:102253800-102255000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:102253800-102255200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:102253800-102255600	Enhancers	HUVEC	blood vessel
23	chr6:102254200-102255800	Enhancers	NH-A	brain
24	chr6:102254400-102254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:102254400-102254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:102254400-102254800	Weak transcription	HSMM	muscle
27	chr6:102254400-102254800	Weak transcription	Osteobl	bone
28	chr6:102254800-102255200	Enhancers	HSMM	muscle
29	chr6:102254800-102255200	Enhancers	Osteobl	bone
30	chr6:102254800-102255600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:102254800-102255800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:102255200-102256200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:102255200-102256200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:102255400-102255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:102255600-102256200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:102255800-102256400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:102264600-102265200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:102264800-102265200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:102266000-102266200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:102266000-102266400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:102266000-102266400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:102266200-102272800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:102272400-102272800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:102272400-102272800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:102272400-102273000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:102272400-102273200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:102272400-102273200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:102272400-102273200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:102272400-102273200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:102272400-102273200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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