Variant report

Variant	rs74124979
Chromosome Location	chr1:161409322-161409323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161128203..161130042-chr1:161408720..161410734,2	K562	blood:
2	chr1:161406383..161407903-chr1:161408696..161410295,2	K562	blood:
3	chr1:161391094..161394225-chr1:161406445..161410510,3	K562	blood:
4	chr1:161172685..161175216-chr1:161409075..161411689,2	K562	blood:
5	chr1:161352053..161353728-chr1:161407304..161409972,2	K562	blood:
6	chr1:161398543..161400305-chr1:161409223..161410860,2	K562	blood:
7	chr1:161354632..161358747-chr1:161408665..161411829,3	K562	blood:
8	chr1:161395263..161401587-chr1:161405777..161411756,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224985	Chromatin interaction
ENSG00000143258	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57034599	0.80[AFR][1000 genomes]
rs61446694	0.80[AFR][1000 genomes]
rs74124963	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124965	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124975	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
19	nsv820819	chr1:161408548-161451156	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv21308	chr1:161409063-161442720	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161409000-161409600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:161409000-161409600	Bivalent Enhancer	HepG2	liver
3	chr1:161409000-161409800	Enhancers	Pancreas	Pancrea
4	chr1:161409000-161410000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:161409000-161410600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:161409200-161409400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
7	chr1:161409200-161409400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr1:161409200-161409400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:161409200-161409400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:161409200-161409400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:161409200-161409400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:161409200-161409400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:161409200-161409400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr1:161409200-161409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:161409200-161409400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:161409200-161409400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr1:161409200-161409400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:161409200-161409400	Bivalent Enhancer	GM12878-XiMat	blood
19	chr1:161409200-161409400	Flanking Active TSS	Hela-S3	cervix
20	chr1:161409200-161409400	Enhancers	HMEC	breast
21	chr1:161409200-161409600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr1:161409200-161409600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr1:161409200-161409600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr1:161409200-161409600	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr1:161409200-161409600	Bivalent Enhancer	HUVEC	blood vessel
26	chr1:161409200-161409800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:161409200-161409800	Flanking Active TSS	A549	lung
28	chr1:161409200-161410000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr1:161409200-161410000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:161409200-161410000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr1:161409200-161410000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
32	chr1:161409200-161410000	Flanking Active TSS	K562	blood
33	chr1:161409200-161410200	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr1:161409200-161410200	Enhancers	Gastric	stomach
35	chr1:161409200-161410200	Enhancers	Spleen	Spleen
36	chr1:161409200-161410400	Bivalent Enhancer	Fetal Brain Male	brain
37	chr1:161409200-161410600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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