Variant report

Variant	esv3522272
Chromosome Location	chr6:166998312-167001210
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	ATF3	chr6:167000246-167000648	GM12878	blood:	n/a	n/a
2	ATF3	chr6:167000270-167000513	K562	blood:	n/a	n/a
3	CHD2	chr6:167000293-167000620	K562	blood:	n/a	n/a
4	CHD2	chr6:167000282-167000605	GM12878	blood:	n/a	n/a
5	CHD2	chr6:167000269-167000599	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr6:167000296-167000639	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:166999814-166999877	GM10266	blood:	n/a	n/a
8	EBF1	chr6:167001178-167001440	GM12878	blood:	n/a	n/a
9	ELF1	chr6:167001137-167001439	GM12878	blood:	n/a	n/a
10	ELF1	chr6:167001090-167002015	GM12878	blood:	n/a	n/a
11	ETS1	chr6:167000302-167000508	K562	blood:	n/a	n/a
12	ETS1	chr6:167000226-167000616	K562	blood:	n/a	n/a
13	FOS	chr6:167000277-167000562	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:167000275-167000623	GM12878	blood:	n/a	n/a
15	FOS	chr6:167000265-167000631	K562	blood:	n/a	n/a
16	FOS	chr6:167000297-167000524	MCF10A-Er-Src	breast:	n/a	n/a
17	GABPA	chr6:167000011-167000170	HepG2	liver:	n/a	n/a
18	GABPA	chr6:166999958-167000306	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr6:167000020-167000176	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr6:167000014-167000172	HepG2	liver:	n/a	n/a
21	GABPA	chr6:167000006-167000179	GM12878	blood:	n/a	n/a
22	GATA2	chr6:167000660-167000953	SH-SY5Y	brain:	n/a	chr6:167000787-167000797
23	HCFC1	chr6:167000253-167000710	Hela-S3	cervix:	n/a	n/a
24	HCFC1	chr6:167000211-167000730	K562	blood:	n/a	n/a
25	HEY1	chr6:166999884-167000289	K562	blood:	n/a	n/a
26	HEY1	chr6:167000002-167000180	HepG2	liver:	n/a	n/a
27	HEY1	chr6:166999887-167000216	HepG2	liver:	n/a	n/a
28	HEY1	chr6:166999909-167000286	K562	blood:	n/a	n/a
29	IRF1	chr6:167000310-167000599	K562	blood:	n/a	n/a
30	IRF3	chr6:167000290-167000616	GM12878	blood:	n/a	n/a
31	MAFF	chr6:166998776-166998849	HepG2	liver:	n/a	chr6:166998820-166998838
32	MAFF	chr6:166998745-166998945	K562	blood:	n/a	chr6:166998820-166998838
33	MAFK	chr6:166998758-166998870	HepG2	liver:	n/a	chr6:166998822-166998837 chr6:166998822-166998838
34	MAFK	chr6:166998698-166998930	HepG2	liver:	n/a	chr6:166998822-166998837 chr6:166998822-166998838
35	MAFK	chr6:166998684-166998915	IMR90	lung:	n/a	chr6:166998822-166998837 chr6:166998822-166998838
36	MAX	chr6:167000289-167000593	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr6:167000272-167000602	GM12878	blood:	n/a	n/a
38	MAZ	chr6:167001188-167001858	GM12878	blood:	n/a	chr6:167001220-167001229
39	MTA3	chr6:167000979-167002760	GM12878	blood:	n/a	n/a
40	NFE2	chr6:167000249-167000616	GM12878	blood:	n/a	n/a
41	NFIC	chr6:167001143-167001959	GM12878	blood:	n/a	n/a
42	NFIC	chr6:167001123-167001910	GM12878	blood:	n/a	n/a
43	NFYA	chr6:167000215-167000653	GM12878	blood:	n/a	n/a
44	NFYA	chr6:167000243-167000839	Hela-S3	cervix:	n/a	n/a
45	NFYA	chr6:167000253-167000615	K562	blood:	n/a	n/a
46	NFYB	chr6:167000237-167000868	Hela-S3	cervix:	n/a	chr6:167000440-167000455
47	NFYB	chr6:167000208-167000908	K562	blood:	n/a	chr6:167000440-167000455
48	NFYB	chr6:167000140-167000957	GM12878	blood:	n/a	chr6:167000440-167000455
49	PAX5	chr6:167000289-167000571	GM12878	blood:	n/a	n/a
50	PAX5	chr6:167001175-167001387	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166987161..166988700-chr6:166996130..166998368,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRP44L-3	chr6:166999612-166999965	NONHSAT116053

Variant related genes	Relation type
FAM103A2P	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77234597	chr6:166998335-166998336	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569615774	chr6:166998337-166998338	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537158558	chr6:166998338-166998339	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186375409	chr6:166998388-166998389	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549931001	chr6:166998436-166998437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552441100	chr6:166998499-166998500	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150074209	chr6:166998537-166998538	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs3799605	chr6:166998554-166998555	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117458718	chr6:166998555-166998556	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs386708492	chr6:166998567-166998568	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115898938	chr6:166998568-166998569	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376843281	chr6:166998581-166998582	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568184218	chr6:166998618-166998619	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574867086	chr6:166998659-166998660	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4710072	chr6:166998662-166998663	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553739633	chr6:166998671-166998672	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113334411	chr6:166998673-166998674	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369958594	chr6:166998726-166998727	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76902170	chr6:166998746-166998747	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs61243538	chr6:166998821-166998822	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546283242	chr6:166998851-166998852	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558328161	chr6:166998922-166998923	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs111527129	chr6:166998924-166998925	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144788829	chr6:166998972-166998973	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530258074	chr6:166998985-166998986	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201597458	chr6:166998986-166998987	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547241658	chr6:166998987-166998988	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs398003318	chr6:166999007-166999008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559193338	chr6:166999071-166999072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201669273	chr6:166999191-166999192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529951987	chr6:166999489-166999490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541419885	chr6:166999497-166999498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563298260	chr6:166999540-166999541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530516111	chr6:166999549-166999550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552287284	chr6:166999553-166999554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571040737	chr6:166999584-166999585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376976325	chr6:166999620-166999621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs528722437	chr6:166999621-166999622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547238641	chr6:166999629-166999630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs200684370	chr6:166999635-166999636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201656275	chr6:166999669-166999670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs557027258	chr6:166999678-166999679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs200116869	chr6:166999689-166999690	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs539542926	chr6:166999712-166999713	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs557865770	chr6:166999717-166999718	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs111772597	chr6:166999727-166999728	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs80141411	chr6:166999784-166999785	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs540791432	chr6:166999786-166999787	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs56372602	chr6:166999787-166999788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs553623143	chr6:166999856-166999857	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166981800-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:166986200-167002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:166986600-167001400	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:166986800-167003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:166987000-167002000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:166987200-166998400	Weak transcription	NH-A	brain
7	chr6:166987200-167001800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:166989000-167011400	Weak transcription	Ovary	ovary
9	chr6:166989600-167001800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:166990600-167001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:166991600-166998800	Enhancers	Fetal Brain Male	brain
12	chr6:166992000-166998800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:166992400-167000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:166992400-167000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:166993600-167003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:166993800-167001800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:166994000-167003600	Weak transcription	Brain Germinal Matrix	brain
18	chr6:166994800-167002000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:166995000-167008400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:166995600-167000200	Weak transcription	Brain Angular Gyrus	brain
21	chr6:166995600-167002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:166995800-167000400	Weak transcription	Spleen	Spleen
23	chr6:166995800-167001200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:166995800-167001600	Weak transcription	Gastric	stomach
25	chr6:166995800-167002200	Weak transcription	Right Ventricle	heart
26	chr6:166996400-166998400	Weak transcription	HSMM	muscle
27	chr6:166996600-166998600	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:166996600-166998800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:166996600-166998800	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr6:166996600-166999000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:166996600-166999000	Enhancers	Osteobl	bone
32	chr6:166996800-166998600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:166996800-166998800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:166996800-166999000	Enhancers	Fetal Heart	heart
35	chr6:166996800-167000600	Weak transcription	Stomach Mucosa	stomach
36	chr6:166996800-167001400	Weak transcription	Brain Anterior Caudate	brain
37	chr6:166997000-166998600	Genic enhancers	Fetal Stomach	stomach
38	chr6:166997000-166998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:166997000-167000400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:166997000-167000600	Weak transcription	Fetal Kidney	kidney
41	chr6:166997000-167002200	Weak transcription	Pancreas	Pancrea
42	chr6:166997000-167003000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:166997200-166998600	Enhancers	NHDF-Ad	bronchial
44	chr6:166997200-166998800	Enhancers	HSMMtube	muscle
45	chr6:166997200-167002000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:166997200-167002200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:166997200-167003400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:166997200-167006000	Weak transcription	Aorta	Aorta
49	chr6:166997400-166998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:166997400-166998800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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