Variant report

Variant	rs73093344
Chromosome Location	chr1:227944634-227944635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227926788..227928510-chr1:227944634..227947567,2	MCF-7	breast:
2	chr1:227944474..227946516-chr1:228127525..228129421,2	K562	blood:
3	chr1:227929538..227931796-chr1:227944402..227947337,2	MCF-7	breast:
4	chr1:227943509..227946452-chr1:227956014..227958936,2	K562	blood:
5	chr1:227914203..227917411-chr1:227943928..227946882,3	MCF-7	breast:
6	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000264483	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12563564	1.00[AMR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes]
rs12565618	1.00[AMR][1000 genomes]
rs12565653	1.00[AMR][1000 genomes]
rs12567084	1.00[AMR][1000 genomes]
rs16847987	1.00[AMR][1000 genomes]
rs17492447	1.00[AMR][1000 genomes]
rs2101862	1.00[AMR][1000 genomes]
rs2313220	1.00[AMR][1000 genomes]
rs35703429	1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs59404931	1.00[AMR][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs61283390	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes]
rs73090986	1.00[AMR][1000 genomes]
rs73090987	1.00[AMR][1000 genomes]
rs73090994	1.00[AMR][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes]
rs73092610	1.00[AMR][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73093304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093319	1.00[AMR][1000 genomes]
rs73093328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73094571	1.00[AMR][1000 genomes]
rs73098926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098933	1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs7526436	1.00[AMR][1000 genomes]
rs7555208	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
2	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:227930200-227945600	Weak transcription	NH-A	brain
4	chr1:227932800-227947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:227933000-227946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:227934000-227948800	Strong transcription	Primary T cells from cord blood	blood
7	chr1:227934200-227945400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:227934400-227950000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:227934800-227950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:227934800-227950400	Strong transcription	Fetal Intestine Small	intestine
11	chr1:227935000-227949600	Strong transcription	Dnd41	blood
12	chr1:227935200-227949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:227936400-227946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:227936400-227946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:227936600-227945000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:227936600-227945000	Weak transcription	Fetal Kidney	kidney
17	chr1:227937200-227949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:227937400-227946000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:227937600-227946000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:227938000-227945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:227938000-227950200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:227938400-227946800	Weak transcription	HMEC	breast
23	chr1:227938600-227946800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:227938600-227950400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:227939000-227945400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:227939200-227946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:227939200-227946600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:227939200-227946800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:227939200-227947000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:227939400-227944800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:227939400-227945000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:227939400-227945600	Weak transcription	Liver	Liver
33	chr1:227939400-227945800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:227939400-227946200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:227939400-227946800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:227939400-227946800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:227939600-227945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:227940000-227945800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:227940400-227950000	Strong transcription	HepG2	liver
40	chr1:227940600-227945000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:227940800-227949800	Strong transcription	Thymus	Thymus
42	chr1:227941400-227946000	Weak transcription	Fetal Brain Female	brain
43	chr1:227941600-227947000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:227941800-227945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:227941800-227946800	Weak transcription	Fetal Brain Male	brain
46	chr1:227942000-227950000	Weak transcription	Small Intestine	intestine
47	chr1:227942200-227945000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:227942200-227946000	Weak transcription	NHLF	lung
49	chr1:227942200-227946200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:227942200-227946600	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links