Variant report

Variant	rs73092944
Chromosome Location	chr1:228274619-228274620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228274391-228275988	A549	lung:	n/a	n/a
2	POLR2A	chr1:228274276-228290284	K562	blood:	n/a	n/a
3	EBF1	chr1:228274572-228275011	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:228274438-228274939	K562	blood:	n/a	n/a
5	POLR2A	chr1:228274094-228274986	GM12878	blood:	n/a	n/a
6	HEY1	chr1:228274524-228274769	K562	blood:	n/a	n/a
7	POLR2A	chr1:228274107-228274773	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr1:228274170-228289426	HepG2	liver:	n/a	n/a
9	NFATC1	chr1:228274564-228275050	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:228274196-228274985	GM12878	blood:	n/a	n/a
11	NFATC1	chr1:228274407-228274982	GM12878	blood:	n/a	n/a
12	RCOR1	chr1:228274510-228275046	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:228274555-228274753	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:228274599-228274669	K562	blood:	n/a	n/a
15	POLR2A	chr1:228274439-228274811	GM12891	blood:	n/a	n/a
16	POLR2A	chr1:228274451-228276140	K562	blood:	n/a	n/a
17	POLR2A	chr1:228274271-228281353	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:228274511-228274711	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:228274159-228276105	K562	blood:	n/a	n/a
20	POLR2A	chr1:228274525-228274782	K562	blood:	n/a	n/a
21	HEY1	chr1:228268975-228274841	K562	blood:	n/a	chr1:228273039-228273054 chr1:228270374-228270389 chr1:228269868-228269883
22	WRNIP1	chr1:228274554-228276197	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:228272480..228275319-chr1:228642509..228645344,2	K562	blood:
2	chr1:228274188..228275817-chr1:228326057..228328132,2	MCF-7	breast:
3	chr1:228274118..228278669-chr1:228294195..228297645,6	MCF-7	breast:
4	chr1:228271974..228275319-chr1:228643789..228645457,3	K562	blood:
5	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
6	chr1:228198470..228200225-chr1:228272240..228274901,2	K562	blood:
7	chr1:228272232..228274964-chr1:228309512..228311112,2	K562	blood:
8	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
9	chr1:227973508..227976414-chr1:228271906..228274660,2	K562	blood:

No data

Variant related genes	Relation type
ARF1	TF binding region
ENSG00000143774	Chromatin interaction
ENSG00000162910	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2231715	1.00[AMR][1000 genomes]
rs2231720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56756911	1.00[AMR][1000 genomes]
rs56832724	1.00[AMR][1000 genomes]
rs56921575	1.00[AFR][1000 genomes]
rs56986798	1.00[AMR][1000 genomes]
rs57053910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59699324	1.00[AMR][1000 genomes]
rs61413658	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704401	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092912	1.00[AMR][1000 genomes]
rs73092923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092953	1.00[AMR][1000 genomes]
rs73092954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092957	1.00[AMR][1000 genomes]
rs73092959	1.00[AMR][1000 genomes]
rs73092999	1.00[AMR][1000 genomes]
rs73095404	1.00[AMR][1000 genomes]
rs73095424	1.00[AMR][1000 genomes]
rs73095429	1.00[AMR][1000 genomes]
rs73095437	1.00[AMR][1000 genomes]
rs73095449	1.00[AMR][1000 genomes]
rs73095475	0.86[AFR][1000 genomes]
rs73110726	1.00[AFR][1000 genomes]
rs73110739	1.00[AFR][1000 genomes]
rs73110775	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	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
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228271600-228278600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:228272000-228275200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:228272000-228275400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:228272000-228275800	Enhancers	Spleen	Spleen
5	chr1:228272200-228275400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:228272400-228279400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr1:228272400-228280000	Genic enhancers	Fetal Thymus	thymus
8	chr1:228272400-228284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:228272600-228274800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:228272600-228275600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:228272600-228278400	Enhancers	Small Intestine	intestine
12	chr1:228272600-228280200	Enhancers	Fetal Heart	heart
13	chr1:228272800-228274800	Enhancers	Esophagus	oesophagus
14	chr1:228272800-228275200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:228272800-228275400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:228272800-228275400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:228272800-228278600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:228272800-228278600	Genic enhancers	Fetal Stomach	stomach
19	chr1:228273000-228274800	Enhancers	Fetal Intestine Large	intestine
20	chr1:228273000-228275600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:228273000-228275600	Enhancers	Brain Hippocampus Middle	brain
22	chr1:228273000-228275600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:228273000-228275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:228273000-228276000	Enhancers	Placenta	Placenta
25	chr1:228273000-228277400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:228273000-228279200	Genic enhancers	Fetal Intestine Small	intestine
27	chr1:228273000-228284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:228273200-228275200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:228273200-228275400	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:228273200-228275400	Enhancers	HMEC	breast
31	chr1:228273200-228275600	Enhancers	Thymus	Thymus
32	chr1:228273200-228275800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:228273200-228275800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:228273200-228275800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:228273200-228276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:228273200-228276400	Enhancers	Stomach Mucosa	stomach
37	chr1:228273400-228275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:228273400-228275200	Enhancers	Right Atrium	heart
39	chr1:228273400-228275400	Enhancers	Primary B cells from cord blood	blood
40	chr1:228273400-228275400	Enhancers	Gastric	stomach
41	chr1:228273400-228275400	Enhancers	Ovary	ovary
42	chr1:228273400-228275400	Enhancers	NHLF	lung
43	chr1:228273400-228275600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:228273400-228275600	Enhancers	Pancreas	Pancrea
45	chr1:228273400-228275800	Enhancers	Lung	lung
46	chr1:228273400-228275800	Enhancers	Right Ventricle	heart
47	chr1:228273400-228275800	Enhancers	HSMMtube	muscle
48	chr1:228273400-228276200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:228273400-228276400	Enhancers	Brain Angular Gyrus	brain
50	chr1:228273400-228276600	Weak transcription	Brain Germinal Matrix	brain

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