Variant report

Variant	rs547870653
Chromosome Location	chr6:37788512-37788513
allele	A/C
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	MAX	chr6:37788027-37788744	NB4	blood:	n/a	chr6:37788253-37788262 chr6:37788711-37788722
2	MYC	chr6:37788091-37788642	MCF10A-Er-Src	breast:	n/a	chr6:37788253-37788262
3	MAX	chr6:37787951-37788780	ECC-1	luminal epithelium:	n/a	chr6:37788253-37788262 chr6:37788711-37788722
4	CHD1	chr6:37788124-37788891	GM12878	blood:	n/a	n/a
5	CEBPB	chr6:37787956-37788622	HCT-116	colon:	n/a	chr6:37788250-37788261
6	CEBPB	chr6:37787977-37788544	ECC-1	luminal epithelium:	n/a	chr6:37788250-37788261
7	MAZ	chr6:37786205-37788617	IMR90	lung:	n/a	chr6:37788253-37788262
8	CEBPB	chr6:37787994-37788528	K562	blood:	n/a	chr6:37788250-37788261
9	MXI1	chr6:37788095-37788809	GM12878	blood:	n/a	n/a
10	MAX	chr6:37788010-37788869	Hela-S3	cervix:	n/a	chr6:37788253-37788262 chr6:37788711-37788722
11	IKZF1	chr6:37788262-37788736	GM12878	blood:	n/a	n/a
12	ATF3	chr6:37787964-37788556	HCT-116	colon:	n/a	n/a
13	POLR2A	chr6:37787973-37788626	HUVEC	blood vessel:	n/a	n/a
14	RAD21	chr6:37788109-37788728	IMR90	lung:	n/a	n/a
15	CEBPB	chr6:37788022-37788520	MCF-7	breast:	n/a	chr6:37788250-37788261
16	CEBPB	chr6:37788047-37788543	A549	lung:	n/a	chr6:37788250-37788261
17	CEBPB	chr6:37788014-37788749	Hela-S3	cervix:	n/a	chr6:37788250-37788261
18	BHLHE40	chr6:37788044-37788696	GM12878	blood:	n/a	n/a
19	NFIC	chr6:37788062-37788531	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:37788069-37788697	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:37787954-37788563	HCT-116	colon:	n/a	chr6:37788250-37788261
22	RFX5	chr6:37788352-37788825	GM12878	blood:	n/a	n/a
23	MYC	chr6:37788067-37788652	K562	blood:	n/a	chr6:37788253-37788262
24	ZNF263	chr6:37788065-37788782	HEK293-T-REx	kidney:	n/a	chr6:37788630-37788639 chr6:37788225-37788246 chr6:37788230-37788239 chr6:37788159-37788168
25	MAZ	chr6:37786486-37788628	Hela-S3	cervix:	n/a	chr6:37788253-37788262
26	WRNIP1	chr6:37788140-37788787	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:37787974-37788906	GM12878	blood:	n/a	n/a
28	CEBPB	chr6:37787962-37788533	MCF-7	breast:	n/a	chr6:37788250-37788261
29	TEAD4	chr6:37788021-37788783	K562	blood:	n/a	n/a
30	SIN3A	chr6:37788088-37788574	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOS	chr6:37788097-37788548	HUVEC	blood vessel:	n/a	n/a
32	MXI1	chr6:37787912-37788614	IMR90	lung:	n/a	n/a
33	RAD21	chr6:37788275-37788614	HepG2	liver:	n/a	n/a
34	ATF3	chr6:37787999-37788521	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37787991..37789516-chr6:37789518..37791025,2	MCF-7	breast:
2	chr3:64084830..64086992-chr6:37787357..37789363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225945	TF binding region
ENSG00000241572	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3328154	chr6:37786599-37789347	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3352508	chr6:37786924-37789022	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3400653	chr6:37787424-37788572	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr6:37784800-37789000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:37785400-37789200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:37785800-37788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:37785800-37788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:37785800-37788600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:37785800-37788600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:37785800-37788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:37785800-37788800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:37785800-37788800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:37785800-37788800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:37785800-37788800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:37785800-37788800	Active TSS	A549	lung
13	chr6:37785800-37789000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:37785800-37789200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:37786000-37788600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:37786000-37788600	Active TSS	NHDF-Ad	bronchial
17	chr6:37786000-37788800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:37786000-37788800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:37786000-37788800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:37786000-37788800	Active TSS	Fetal Muscle Trunk	muscle
21	chr6:37786000-37789000	Active TSS	Stomach Smooth Muscle	stomach
22	chr6:37786000-37789200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:37786000-37789200	Active TSS	Fetal Intestine Large	intestine
24	chr6:37786000-37789200	Active TSS	Right Ventricle	heart
25	chr6:37786000-37789200	Active TSS	GM12878-XiMat	blood
26	chr6:37786000-37789800	Active TSS	Psoas Muscle	Psoas
27	chr6:37786000-37790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:37786200-37788600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:37786200-37788600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:37786200-37788600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:37786200-37788600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:37786200-37788800	Active TSS	Colonic Mucosa	Colon
33	chr6:37786200-37788800	Active TSS	Esophagus	oesophagus
34	chr6:37786200-37788800	Active TSS	Left Ventricle	heart
35	chr6:37786200-37788800	Active TSS	Ovary	ovary
36	chr6:37786200-37788800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr6:37786200-37789000	Active TSS	Aorta	Aorta
38	chr6:37786200-37789200	Active TSS	Pancreas	Pancrea
39	chr6:37786400-37788600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:37786400-37788600	Active TSS	Brain Hippocampus Middle	brain
41	chr6:37786400-37788600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:37786400-37788600	Active TSS	Colon Smooth Muscle	Colon
43	chr6:37786400-37788600	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:37786400-37788600	Active TSS	Fetal Intestine Small	intestine
45	chr6:37786400-37788600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:37786400-37788600	Active TSS	Osteobl	bone
47	chr6:37786400-37788800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:37786400-37788800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:37786400-37788800	Active TSS	Fetal Kidney	kidney
50	chr6:37786400-37788800	Active TSS	Lung	lung

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