Variant report

Variant	rs61175467
Chromosome Location	chr1:247498726-247498727
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:247498195-247499259	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:247498568-247498964	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:247498480-247498773	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:247494422-247505513	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:247498559-247498955	HepG2	liver:	n/a	n/a
6	GATA2	chr1:247497768-247499004	SH-SY5Y	brain:	n/a	chr1:247498753-247498764 chr1:247498742-247498759
7	POLR2A	chr1:247494396-247499332	K562	blood:	n/a	n/a
8	POLR2A	chr1:247497823-247499466	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:247494236-247499105	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:247494209-247500059	K562	blood:	n/a	n/a
11	POLR2A	chr1:247497751-247499213	K562	blood:	n/a	n/a
12	MAZ	chr1:247498608-247498791	K562	blood:	n/a	n/a
13	POLR2A	chr1:247494445-247501569	K562	blood:	n/a	n/a
14	POLR2A	chr1:247498689-247499244	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:247494301-247499306	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:247493567-247500327	K562	blood:	n/a	n/a
17	POLR2A	chr1:247494315-247499248	K562	blood:	n/a	n/a
18	POLR2A	chr1:247494342-247501582	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:247494334-247499143	K562	blood:	n/a	n/a
20	POLR2A	chr1:247498701-247499370	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:247494333-247499244	K562	blood:	n/a	n/a
22	POLR2A	chr1:247495093-247499947	K562	blood:	n/a	n/a
23	POLR2A	chr1:247493627-247501497	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:247493863-247500190	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247490651..247493187-chr1:247497913..247500341,2	MCF-7	breast:
2	chr1:247497896..247501644-chr1:247501987..247504336,4	MCF-7	breast:
3	chr1:247089398..247090999-chr1:247497289..247500045,2	K562	blood:
4	chr1:247342736..247346262-chr1:247495942..247498816,3	K562	blood:
5	chr1:247496074..247498986-chr1:247563500..247566011,2	K562	blood:
6	chr1:247497043..247499378-chr1:247507440..247508988,2	MCF-7	breast:
7	chr1:247497133..247499092-chr1:249129196..249131643,2	K562	blood:
8	chr1:247497499..247499211-chr1:247511001..247512771,2	MCF-7	breast:
9	chr1:247374235..247377046-chr1:247498080..247500631,2	K562	blood:

No data

Variant related genes	Relation type
ZNF496	TF binding region
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56957622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58742913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
6	esv1799864	chr1:247494789-247500650	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247496200-247503000	Weak transcription	Aorta	Aorta
2	chr1:247496400-247499200	Enhancers	Spleen	Spleen
3	chr1:247496400-247501600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:247496400-247511000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:247496600-247498800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:247496600-247499000	Enhancers	Right Ventricle	heart
7	chr1:247496600-247499200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:247496600-247499200	Enhancers	Fetal Lung	lung
9	chr1:247496600-247499200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr1:247496600-247499200	Enhancers	Left Ventricle	heart
11	chr1:247496600-247500400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:247496600-247501000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:247496600-247501000	Weak transcription	NHDF-Ad	bronchial
14	chr1:247496600-247505800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:247496600-247506000	Weak transcription	HSMMtube	muscle
16	chr1:247496600-247511000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:247496800-247498800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:247496800-247498800	Enhancers	Pancreas	Pancrea
19	chr1:247496800-247499000	Weak transcription	HUVEC	blood vessel
20	chr1:247496800-247500400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:247496800-247500800	Weak transcription	Ovary	ovary
22	chr1:247496800-247501200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:247496800-247501200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr1:247496800-247501400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:247496800-247502000	Weak transcription	HSMM	muscle
26	chr1:247496800-247502200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:247496800-247503000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:247496800-247507200	Weak transcription	Fetal Intestine Large	intestine
29	chr1:247496800-247510200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:247497000-247498800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr1:247497000-247499200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:247497000-247499600	Enhancers	Brain Germinal Matrix	brain
33	chr1:247497000-247500000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:247497000-247501600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:247497000-247503000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:247497000-247504000	Weak transcription	Stomach Mucosa	stomach
37	chr1:247497000-247511200	Weak transcription	Esophagus	oesophagus
38	chr1:247497200-247498800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:247497200-247499000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:247497200-247499000	Strong transcription	Fetal Stomach	stomach
41	chr1:247497200-247499200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:247497200-247499600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:247497200-247499600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:247497200-247500800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:247497200-247500800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:247497200-247502200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:247497200-247503000	Weak transcription	NHEK	skin
48	chr1:247497200-247505800	Weak transcription	Brain Substantia Nigra	brain
49	chr1:247497200-247506200	Weak transcription	HMEC	breast
50	chr1:247497200-247509800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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