Variant report

Variant	esv1530793
Chromosome Location	chr6:37138050-37138053
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	BHLHE40	chr6:37136951-37138150	HepG2	liver:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
2	BHLHE40	chr6:37136846-37139198	K562	blood:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
3	BHLHE40	chr6:37137365-37138305	GM12878	blood:	n/a	chr6:37137956-37137972 chr6:37137959-37137975 chr6:37137948-37137964
4	CBX3	chr6:37136599-37138752	K562	blood:	n/a	n/a
5	CCNT2	chr6:37136603-37139482	K562	blood:	n/a	chr6:37137572-37137581
6	CEBPD	chr6:37137347-37138148	HepG2	liver:	n/a	n/a
7	CEBPD	chr6:37137253-37138154	K562	blood:	n/a	n/a
8	CEBPD	chr6:37137069-37138589	HepG2	liver:	n/a	n/a
9	CHD1	chr6:37136448-37141220	IMR90	lung:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598 chr6:37138885-37138895
10	CHD2	chr6:37136693-37138364	Hela-S3	cervix:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
11	CHD2	chr6:37137121-37138753	K562	blood:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
12	CHD2	chr6:37136922-37138059	HepG2	liver:	n/a	chr6:37137563-37137573 chr6:37137940-37137950 chr6:37137591-37137598
13	CREB1	chr6:37136753-37140395	HepG2	liver:	n/a	n/a
14	CREB1	chr6:37137120-37138225	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr6:37137116-37138345	GM12878	blood:	n/a	n/a
16	CREB1	chr6:37137418-37138135	A549	lung:	n/a	n/a
17	CREB1	chr6:37136691-37138428	K562	blood:	n/a	n/a
18	CTCF	chr6:37137386-37138833	K562	blood:	n/a	n/a
19	CTCF	chr6:37137927-37138256	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr6:37138025-37138178	Lung_OC	lung:	n/a	n/a
21	CTCF	chr6:37137989-37138774	IMR90	lung:	n/a	n/a
22	CTCF	chr6:37138040-37138190	GM12873	blood:	n/a	n/a
23	CTCF	chr6:37137087-37140676	SK-N-SH	brain:	n/a	chr6:37140123-37140133 chr6:37140115-37140136 chr6:37140122-37140135 chr6:37137116-37137129 chr6:37140120-37140138
24	CTCF	chr6:37138039-37138324	HepG2	liver:	n/a	n/a
25	CTCF	chr6:37138040-37138352	GM19238	blood:	n/a	n/a
26	CTCF	chr6:37138047-37138339	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:37138033-37138408	MCF-7	breast:	n/a	n/a
28	CTCF	chr6:37138040-37138190	HMEC	breast:	n/a	n/a
29	CTCF	chr6:37137752-37138972	K562	blood:	n/a	n/a
30	CTCF	chr6:37138040-37138190	BJ	skin:	n/a	n/a
31	CTCF	chr6:37137999-37138351	GM19239	blood:	n/a	n/a
32	CTCF	chr6:37138040-37138190	GM12870	blood:	n/a	n/a
33	CTCF	chr6:37138040-37138190	HAc	cerebellar:	n/a	n/a
34	CTCF	chr6:37138040-37138190	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr6:37138041-37138311	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:37138000-37138150	GM12866	blood:	n/a	n/a
37	CTCF	chr6:37137877-37138350	K562	blood:	n/a	n/a
38	CTCF	chr6:37137894-37138212	T-47D	breast:	n/a	n/a
39	CTCF	chr6:37138040-37138312	GM12891	blood:	n/a	n/a
40	CTCF	chr6:37138020-37138170	K562	blood:	n/a	n/a
41	CTCF	chr6:37138027-37138308	Fibrobl	skin:	n/a	n/a
42	CTCF	chr6:37137495-37138850	GM12878	blood:	n/a	n/a
43	CTCF	chr6:37138029-37138341	GM12892	blood:	n/a	n/a
44	CTCF	chr6:37138040-37138190	WERI-Rb-1	eye:	n/a	n/a
45	E2F1	chr6:37137059-37138732	Hela-S3	cervix:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137600-37137611 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137545-37137556 chr6:37137591-37137598 chr6:37137586-37137597 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37138471-37138481 chr6:37137491-37137500 chr6:37138468-37138478 chr6:37137587-37137598 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37138445-37138454 chr6:37137099-37137106
46	E2F4	chr6:37136415-37138062	MCF10A-Er-Src	breast:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137591-37137598 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137599-37137610 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37137491-37137500 chr6:37137587-37137598 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37136900-37136912 chr6:37137099-37137106
47	E2F4	chr6:37136923-37138829	K562	blood:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137591-37137598 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137599-37137610 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37138471-37138481 chr6:37137491-37137500 chr6:37138468-37138478 chr6:37137587-37137598 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37138445-37138454 chr6:37137099-37137106
48	E2F6	chr6:37136856-37138391	K562	blood:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137591-37137598 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37137491-37137500 chr6:37137587-37137598 chr6:37137544-37137555 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37136900-37136912 chr6:37137099-37137106
49	E2F6	chr6:37136855-37138297	K562	blood:	n/a	chr6:37137584-37137601 chr6:37137586-37137595 chr6:37137587-37137598 chr6:37137600-37137612 chr6:37137583-37137597 chr6:37137591-37137598 chr6:37137587-37137594 chr6:37137099-37137106 chr6:37137586-37137594 chr6:37137584-37137601 chr6:37137491-37137500 chr6:37137587-37137598 chr6:37137544-37137555 chr6:37137584-37137601 chr6:37137587-37137598 chr6:37137587-37137598 chr6:37137099-37137106 chr6:37136900-37136912 chr6:37137099-37137106
50	EBF1	chr6:37138018-37138388	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37018618..37019781-chr6:37138024..37138822,3	MCF-7	breast:
2	chr6:36989173..36991551-chr6:37137394..37139647,3	K562	blood:
3	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:

Variant related genes	Relation type
PIM1	TF binding region
ENSG00000137409	chromatin interactions
ENSG00000146192	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 91 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546710622	chr6:37138051-37138052	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37136000-37139800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:37136400-37139000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:37136600-37138200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:37136600-37138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:37136600-37140200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:37136600-37140200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:37136600-37140200	Active TSS	Aorta	Aorta
8	chr6:37136600-37140600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:37136800-37138200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:37136800-37138200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:37136800-37139000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:37136800-37139000	Active TSS	Right Ventricle	heart
13	chr6:37136800-37139000	Active TSS	A549	lung
14	chr6:37136800-37139800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:37136800-37139800	Active TSS	Gastric	stomach
16	chr6:37136800-37140200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:37136800-37140200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:37136800-37140200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:37136800-37140200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:37136800-37140200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:37136800-37140200	Active TSS	Esophagus	oesophagus
22	chr6:37136800-37140200	Active TSS	Left Ventricle	heart
23	chr6:37136800-37140200	Active TSS	Lung	lung
24	chr6:37136800-37140400	Active TSS	Psoas Muscle	Psoas
25	chr6:37136800-37140800	Active TSS	Ovary	ovary
26	chr6:37137000-37138200	Transcr. at gene 5' and 3'	Right Atrium	heart
27	chr6:37137000-37138200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr6:37137000-37138400	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:37137000-37138600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:37137000-37138800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:37137000-37138800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:37137000-37138800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:37137000-37138800	Active TSS	Brain Hippocampus Middle	brain
34	chr6:37137000-37138800	Active TSS	Fetal Stomach	stomach
35	chr6:37137000-37138800	Active TSS	NHLF	lung
36	chr6:37137000-37138800	Active TSS	Osteobl	bone
37	chr6:37137000-37139000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:37137000-37139000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:37137000-37139000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:37137000-37139000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr6:37137000-37139600	Active TSS	Brain Angular Gyrus	brain
42	chr6:37137000-37139800	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:37137000-37140200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:37137000-37140200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:37137000-37140200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:37137000-37140200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:37137000-37140200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:37137000-37140200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:37137000-37140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:37137000-37140200	Active TSS	Liver	Liver

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