Variant report

Variant	rs370462307
Chromosome Location	chr6:71999546-71999547
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	MAZ	chr6:71997858-71999980	IMR90	lung:	n/a	n/a
2	FOXA2	chr6:71999368-71999546	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:71997747-71999605	GM19099	blood:	n/a	n/a
4	BRCA1	chr6:71999239-71999620	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:71997860-71999845	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:71998200-72000065	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:71996908-71999723	Raji	blood:	n/a	n/a
8	CTCF	chr6:71997758-71999716	SK-N-SH	brain:	n/a	chr6:71998393-71998406 chr6:71998368-71998377 chr6:71999230-71999238 chr6:71998968-71998981
9	MXI1	chr6:71997609-72000196	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71997812..71999868-chr6:72020711..72023495,2	MCF-7	breast:

Variant related genes	Relation type
OGFRL1	TF binding region
ENSG00000232295	TF binding region
ENSG00000232295	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	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3424106	chr6:71997456-72000004	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3385640	chr6:71997681-71999879	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1802752	chr6:71998480-72005794	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:71997200-72000400	Active TSS	A549	lung
4	chr6:71997400-72000000	Active TSS	Rectal Smooth Muscle	rectum
5	chr6:71997400-72000400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:71997600-71999600	Active TSS	Aorta	Aorta
7	chr6:71997600-72000000	Active TSS	Brain Germinal Matrix	brain
8	chr6:71997600-72000200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
10	chr6:71997800-71999600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:71997800-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:71997800-71999600	Active TSS	HSMM	muscle
13	chr6:71997800-71999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:71997800-71999800	Active TSS	Brain Hippocampus Middle	brain
15	chr6:71997800-71999800	Active TSS	Right Ventricle	heart
16	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
17	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:71998000-71999600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:71998000-71999600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:71998000-71999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:71998000-71999600	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:71998000-71999600	Active TSS	NHLF	lung
24	chr6:71998000-71999800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr6:71998000-71999800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr6:71998000-71999800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:71998000-71999800	Active TSS	Fetal Kidney	kidney
28	chr6:71998000-71999800	Active TSS	Small Intestine	intestine
29	chr6:71998000-71999800	Active TSS	NHDF-Ad	bronchial
30	chr6:71998000-72000000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:71998000-72000000	Active TSS	Fetal Stomach	stomach
32	chr6:71998000-72000400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:71998000-72000600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:71998000-72002200	Active TSS	Brain Angular Gyrus	brain
35	chr6:71998200-71999600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:71998200-71999600	Active TSS	Liver	Liver
37	chr6:71998200-71999600	Active TSS	Colon Smooth Muscle	Colon
38	chr6:71998200-71999600	Active TSS	Pancreas	Pancrea
39	chr6:71998200-71999600	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:71998200-71999600	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:71998200-71999800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:71998200-71999800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:71998200-71999800	Active TSS	Primary T cells from cord blood	blood
44	chr6:71998200-71999800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr6:71998200-72000400	Active TSS	HMEC	breast
46	chr6:71998200-72000600	Active TSS	Fetal Thymus	thymus
47	chr6:71998200-72002200	Active TSS	GM12878-XiMat	blood
48	chr6:71998400-71999600	Active TSS	Primary B cells from cord blood	blood
49	chr6:71998400-71999600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:71998400-71999600	Active TSS	Colonic Mucosa	Colon

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