Variant report

Variant	rs544088149
Chromosome Location	chr6:131384340-131384341
allele	C/T
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	TBP	chr6:131384181-131385001	HepG2	liver:	n/a	n/a
2	MAX	chr6:131383524-131385283	A549	lung:	n/a	chr6:131383712-131383721
3	REST	chr6:131384138-131384473	PANC-1	pancreas:	n/a	chr6:131384359-131384372
4	RFX5	chr6:131384207-131384803	HepG2	liver:	n/a	n/a
5	MAFK	chr6:131384295-131384936	IMR90	lung:	n/a	chr6:131384718-131384729 chr6:131384717-131384733
6	RAD21	chr6:131384261-131384881	HepG2	liver:	n/a	n/a
7	EGR1	chr6:131384109-131385122	HCT-116	colon:	n/a	chr6:131384522-131384536 chr6:131384134-131384147 chr6:131384133-131384143
8	CTCF	chr6:131384300-131384450	AG04450	lung:	n/a	n/a
9	ELF1	chr6:131384132-131384742	GM12878	blood:	n/a	chr6:131384158-131384170
10	CTCF	chr6:131384240-131384390	HFF-Myc	foreskin:	n/a	n/a
11	POLR2A	chr6:131384131-131385219	GM19193	blood:	n/a	n/a
12	POLR2A	chr6:131384150-131384396	H1-hESC	embryonic stem cell:	n/a	n/a
13	CCNT2	chr6:131383489-131384716	K562	blood:	n/a	chr6:131384133-131384142
14	SIN3AK20	chr6:131384147-131384708	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr6:131384110-131384869	HUVEC	blood vessel:	n/a	n/a
16	SP1	chr6:131384219-131384746	HepG2	liver:	n/a	chr6:131384587-131384598
17	POLR2A	chr6:131383950-131384686	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:131384280-131384430	GM12874	blood:	n/a	n/a
19	RAD21	chr6:131384115-131384657	HepG2	liver:	n/a	n/a
20	GABPA	chr6:131384294-131384656	A549	lung:	n/a	n/a
21	GATA2	chr6:131384303-131385141	HUVEC	blood vessel:	n/a	n/a
22	FOSL2	chr6:131384143-131384751	HepG2	liver:	n/a	chr6:131384722-131384734
23	RUNX3	chr6:131384198-131385284	GM12878	blood:	n/a	n/a
24	CTCF	chr6:131384240-131384390	BJ	skin:	n/a	n/a
25	RCOR1	chr6:131384179-131385092	HepG2	liver:	n/a	n/a
26	CTCF	chr6:131384320-131384470	NHLF	lung:	n/a	n/a
27	POLR2A	chr6:131384140-131384459	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:131384086-131384788	GM12892	blood:	n/a	n/a
29	NFIC	chr6:131384333-131385378	GM12878	blood:	n/a	n/a
30	CTCF	chr6:131384280-131384430	AG09309	skin:	n/a	n/a
31	TBP	chr6:131384155-131384629	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:131384167-131384408	K562	blood:	n/a	n/a
33	POLR2A	chr6:131384058-131384768	HepG2	liver:	n/a	n/a
34	TEAD4	chr6:131384137-131384516	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr6:131383973-131384982	K562	blood:	n/a	n/a
36	MXI1	chr6:131384163-131385274	GM12878	blood:	n/a	n/a
37	SIN3AK20	chr6:131384159-131384825	HepG2	liver:	n/a	n/a
38	CTCF	chr6:131384260-131384410	Hela-S3	cervix:	n/a	n/a
39	RELA	chr6:131384175-131385192	GM15510	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
40	EGR1	chr6:131384336-131384774	H1-hESC	embryonic stem cell:	n/a	chr6:131384522-131384536
41	CTCF	chr6:131384280-131384430	GM12873	blood:	n/a	n/a
42	CTCF	chr6:131384300-131384450	GM12873	blood:	n/a	n/a
43	CTCF	chr6:131384320-131384470	HVMF	connective:	n/a	n/a
44	HEY1	chr6:131384166-131384752	HepG2	liver:	n/a	chr6:131384340-131384355
45	HEY1	chr6:131384209-131384441	K562	blood:	n/a	chr6:131384340-131384355
46	MAZ	chr6:131382443-131385497	IMR90	lung:	n/a	chr6:131383712-131383721
47	TEAD4	chr6:131384096-131385080	HepG2	liver:	n/a	n/a
48	TAF1	chr6:131384041-131384641	H1-hESC	embryonic stem cell:	n/a	n/a
49	RELA	chr6:131384214-131385233	GM18951	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
50	GABPA	chr6:131384232-131384633	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

Variant related genes	Relation type
EPB41L2	TF binding region
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3370421	chr6:131383359-131385457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131381600-131384800	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:131381800-131384600	Active TSS	NHLF	lung
4	chr6:131381800-131384800	Active TSS	Brain Angular Gyrus	brain
5	chr6:131381800-131385000	Active TSS	Ovary	ovary
6	chr6:131381800-131385200	Active TSS	Brain Anterior Caudate	brain
7	chr6:131382000-131384800	Active TSS	A549	lung
8	chr6:131382000-131385000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:131382000-131385000	Active TSS	Brain Substantia Nigra	brain
10	chr6:131382200-131384800	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:131382200-131384800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:131382200-131384800	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:131382200-131385000	Active TSS	Right Atrium	heart
14	chr6:131382200-131385200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:131382400-131384600	Active TSS	Colonic Mucosa	Colon
16	chr6:131382400-131384800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:131382600-131384800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:131382600-131384800	Active TSS	Fetal Intestine Small	intestine
19	chr6:131382600-131384800	Active TSS	Left Ventricle	heart
20	chr6:131382600-131385000	Active TSS	Fetal Kidney	kidney
21	chr6:131382600-131385200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:131382600-131385200	Active TSS	Right Ventricle	heart
23	chr6:131382800-131384400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr6:131382800-131384600	Active TSS	K562	blood
25	chr6:131382800-131384800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:131382800-131385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:131382800-131385200	Active TSS	Aorta	Aorta
28	chr6:131383000-131384600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:131383000-131384600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:131383000-131384600	Active TSS	GM12878-XiMat	blood
31	chr6:131383000-131384600	Active TSS	HSMMtube	muscle
32	chr6:131383000-131384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:131383000-131384800	Active TSS	Brain Hippocampus Middle	brain
34	chr6:131383000-131384800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:131383000-131384800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:131383000-131384800	Active TSS	Fetal Intestine Large	intestine
37	chr6:131383000-131384800	Active TSS	Fetal Lung	lung
38	chr6:131383000-131384800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:131383000-131384800	Active TSS	HSMM	muscle
40	chr6:131383000-131384800	Active TSS	NHDF-Ad	bronchial
41	chr6:131383000-131384800	Active TSS	Osteobl	bone
42	chr6:131383000-131385000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:131383000-131385000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:131383000-131385000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:131383000-131385000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:131383000-131385000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:131383000-131385000	Active TSS	Lung	lung
48	chr6:131383000-131385200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:131383000-131385200	Active TSS	Psoas Muscle	Psoas
50	chr6:131383000-131385200	Active TSS	Thymus	Thymus

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