Variant report

Variant	rs62078154
Chromosome Location	chr17:33815207-33815208
allele	A/G
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	RAD21	chr17:33815153-33815598	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr17:33813871-33815879	H1-hESC	embryonic stem cell:	n/a	n/a
3	PAX5	chr17:33815108-33815575	GM12878	blood:	n/a	n/a
4	MAX	chr17:33815169-33815646	K562	blood:	n/a	n/a
5	POU2F2	chr17:33815084-33815832	GM12878	blood:	n/a	chr17:33815544-33815557 chr17:33815544-33815555
6	RUNX3	chr17:33815153-33815725	GM12878	blood:	n/a	n/a
7	E2F6	chr17:33815147-33815586	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:33815100-33815544	GM12878	blood:	n/a	n/a
9	E2F6	chr17:33815168-33815711	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:33815117-33815634	K562	blood:	n/a	n/a
11	POLR2A	chr17:33815059-33815771	GM12878	blood:	n/a	n/a
12	MTA3	chr17:33815179-33815536	GM12878	blood:	n/a	n/a
13	PML	chr17:33814656-33815497	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267046	TF binding region
SLFN12L	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12451141	0.87[EUR][1000 genomes]
rs12451679	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12453650	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16970988	0.91[EUR][1000 genomes]
rs16971025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62078141	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62078142	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62078145	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62078151	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065626	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv1056116	chr17:33691457-33815452	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33812800-33820400	Strong transcription	Dnd41	blood
2	chr17:33813800-33815400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr17:33813800-33815600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:33813800-33815600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
5	chr17:33813800-33815600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr17:33813800-33815800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr17:33813800-33815800	Active TSS	Right Ventricle	heart
8	chr17:33814000-33815400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:33814000-33815400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:33814000-33815400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
11	chr17:33814000-33815400	Active TSS	Ovary	ovary
12	chr17:33814000-33815400	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr17:33814000-33815400	Bivalent/Poised TSS	HSMM	muscle
14	chr17:33814000-33815600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:33814000-33815600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:33814000-33815600	Active TSS	Right Atrium	heart
17	chr17:33814000-33815600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr17:33814000-33815800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr17:33814000-33816400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:33814200-33815400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr17:33814200-33815400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:33814200-33815400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:33814200-33815400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:33814200-33815400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr17:33814200-33815400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr17:33814200-33815400	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr17:33814200-33815600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr17:33814200-33815800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr17:33814400-33815400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr17:33814400-33815400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
31	chr17:33814600-33815400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:33814600-33815600	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr17:33814800-33815400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:33814800-33815400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:33814800-33815400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr17:33814800-33815400	Bivalent/Poised TSS	Osteobl	bone
37	chr17:33814800-33815600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:33815000-33815400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:33815000-33815400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr17:33815000-33815400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr17:33815000-33815400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:33815000-33815400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:33815000-33815400	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr17:33815000-33815400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:33815000-33815400	Bivalent Enhancer	Fetal Brain Female	brain
46	chr17:33815000-33815400	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr17:33815000-33815400	Bivalent Enhancer	Placenta	Placenta
48	chr17:33815000-33815400	Bivalent/Poised TSS	NHEK	skin
49	chr17:33815000-33815600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:33815000-33815600	Bivalent Enhancer	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links