Variant report

Variant	rs73097318
Chromosome Location	chr1:228426227-228426228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228425869..228427548-chr1:228593519..228596357,2	K562	blood:
2	chr1:228425239..228427596-chr1:228447801..228449454,2	K562	blood:
3	chr1:228423250..228427133-chr1:228428508..228431857,5	K562	blood:
4	chr1:228401230..228403509-chr1:228424839..228427615,2	K562	blood:

Variant related genes	Relation type
ENSG00000154370	Chromatin interaction
ENSG00000231563	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000154358	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55797049	1.00[AMR][1000 genomes]
rs55940470	1.00[AMR][1000 genomes]
rs57053910	0.87[AFR][1000 genomes]
rs57114383	1.00[AMR][1000 genomes]
rs61413658	0.87[AFR][1000 genomes]
rs61537173	1.00[AMR][1000 genomes]
rs6704401	0.87[AFR][1000 genomes]
rs73095454	1.00[AMR][1000 genomes]
rs73095475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099608	1.00[AMR][1000 genomes]
rs73110726	1.00[AMR][1000 genomes]
rs73110739	1.00[AMR][1000 genomes]
rs73110775	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats 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 lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3372505	chr1:228424229-228428827	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228402200-228428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:228403000-228428200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:228413000-228428400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:228413000-228428800	Weak transcription	Gastric	stomach
5	chr1:228413600-228428800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:228413800-228428600	Weak transcription	Pancreas	Pancrea
7	chr1:228413800-228429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:228414400-228430400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:228417200-228433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:228418400-228436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:228419600-228429600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:228420800-228428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:228420800-228428800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:228422000-228428600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:228422200-228434800	ZNF genes & repeats	Dnd41	blood
16	chr1:228422400-228431000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:228422800-228428800	Weak transcription	Ovary	ovary
18	chr1:228423400-228427600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr1:228423600-228428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:228423600-228429800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:228424200-228428200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:228424400-228428200	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:228424400-228429600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr1:228424400-228430800	Strong transcription	Left Ventricle	heart
25	chr1:228424600-228428000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:228424600-228428400	Strong transcription	Primary T cells from cord blood	blood
27	chr1:228424600-228429400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:228424800-228426600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:228424800-228428200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:228424800-228428400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:228425000-228427400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:228425000-228428600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:228425200-228426800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:228425400-228426400	Genic enhancers	Right Ventricle	heart
35	chr1:228425400-228427000	Strong transcription	Brain Germinal Matrix	brain
36	chr1:228425400-228427200	Strong transcription	Primary B cells from cord blood	blood
37	chr1:228425400-228428600	Weak transcription	Adipose Nuclei	Adipose
38	chr1:228425600-228426600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:228425600-228426600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:228425600-228426600	Strong transcription	Fetal Stomach	stomach
41	chr1:228425600-228427200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:228425600-228427400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:228425600-228427600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:228425600-228428800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:228425600-228429400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:228425600-228429400	ZNF genes & repeats	Thymus	Thymus
47	chr1:228425800-228426400	ZNF genes & repeats	Esophagus	oesophagus
48	chr1:228425800-228427000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:228425800-228427000	ZNF genes & repeats	Hela-S3	cervix
50	chr1:228425800-228429400	ZNF genes & repeats	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links