Variant report

Variant	rs41412346
Chromosome Location	chr20:23064767-23064768
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	MYC	chr20:23064690-23064837	HUVEC	blood vessel:	n/a	chr20:23064743-23064752
2	POLR2A	chr20:23063275-23068192	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr20:23063304-23064852	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr20:23063105-23065080	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr20:23064578-23064789	NB4	blood:	n/a	chr20:23064743-23064752 chr20:23064685-23064694 chr20:23064688-23064695 chr20:23064687-23064696

No.	Distal block	Cell Line	Cell type
1	chr20:23052466..23054957-chr20:23062982..23064859,2	K562	blood:
2	chr20:23063289..23065517-chr20:23156709..23159666,2	K562	blood:
3	chr20:23064363..23066368-chr20:23127818..23130287,3	K562	blood:
4	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:
5	chr20:23063365..23065588-chr20:23067624..23069134,2	K562	blood:

Variant related genes	Relation type
ENSG00000256492	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13306848	1.00[AMR][1000 genomes]
rs3176134	1.00[AMR][1000 genomes]
rs41400249	1.00[AMR][1000 genomes]
rs41460745	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
2	chr20:23060200-23066600	Weak transcription	K562	blood
3	chr20:23061600-23066200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:23062400-23065600	Active TSS	Stomach Smooth Muscle	stomach
5	chr20:23062400-23066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:23062400-23067000	Active TSS	Right Ventricle	heart
7	chr20:23062400-23067400	Enhancers	Fetal Lung	lung
8	chr20:23062600-23065800	Active TSS	Fetal Muscle Leg	muscle
9	chr20:23062600-23066600	Weak transcription	Ovary	ovary
10	chr20:23062600-23066600	Active TSS	Right Atrium	heart
11	chr20:23062600-23066600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr20:23062800-23065400	Active TSS	Adipose Nuclei	Adipose
13	chr20:23062800-23066000	Active TSS	Primary B cells from cord blood	blood
14	chr20:23062800-23067000	Active TSS	Left Ventricle	heart
15	chr20:23062800-23067000	Active TSS	Psoas Muscle	Psoas
16	chr20:23062800-23067600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr20:23063000-23066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:23063000-23067000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr20:23063000-23067200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr20:23063200-23067000	Active TSS	Placenta	Placenta
21	chr20:23063400-23064800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:23063400-23064800	Enhancers	Dnd41	blood
23	chr20:23063400-23064800	Enhancers	HMEC	breast
24	chr20:23063400-23065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:23063400-23067000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:23063400-23067600	Active TSS	Duodenum Mucosa	Duodenum
27	chr20:23063800-23064800	Active TSS	Fetal Kidney	kidney
28	chr20:23063800-23066400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr20:23063800-23067000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:23063800-23067200	Active TSS	Brain Hippocampus Middle	brain
31	chr20:23063800-23067400	Active TSS	Liver	Liver
32	chr20:23064000-23065200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr20:23064000-23066600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr20:23064000-23066600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr20:23064000-23067000	Active TSS	Fetal Intestine Small	intestine
36	chr20:23064000-23067000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr20:23064000-23067400	Flanking Active TSS	Fetal Thymus	thymus
38	chr20:23064000-23067400	Active TSS	Rectal Smooth Muscle	rectum
39	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:23064200-23064800	Enhancers	Brain Substantia Nigra	brain
41	chr20:23064200-23064800	Active TSS	Colon Smooth Muscle	Colon
42	chr20:23064200-23064800	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr20:23064200-23065000	Flanking Active TSS	Esophagus	oesophagus
44	chr20:23064200-23067000	Active TSS	Fetal Intestine Large	intestine
45	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:23064400-23065000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr20:23064400-23065200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
49	chr20:23064400-23065400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr20:23064400-23066000	Enhancers	Primary T cells fromperipheralblood	blood

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