Variant report

Variant	rs56021640
Chromosome Location	chr7:26244494-26244495
allele	A/C
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	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26243874..26246408-chr7:26403177..26404813,2	MCF-7	breast:
2	chr7:26189582..26191145-chr7:26243499..26245167,2	K562	blood:
3	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976883	0.84[EUR][1000 genomes]
rs11977822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279692	1.00[ASN][1000 genomes]
rs73281517	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.89[EUR][1000 genomes]
rs73281586	0.89[EUR][1000 genomes]
rs73281591	0.89[EUR][1000 genomes]
rs7793815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
6	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:26237200-26245000	Active TSS	Thymus	Thymus
5	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:26239400-26244600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:26239400-26244800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr7:26242200-26244600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr7:26242200-26244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:26242200-26245000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr7:26242200-26245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:26242400-26245000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:26242400-26245000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:26242400-26245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:26242400-26245400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
20	chr7:26242400-26245600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr7:26242400-26246000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
23	chr7:26242600-26244800	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:26242600-26245400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr7:26242600-26245600	Transcr. at gene 5' and 3'	K562	blood
28	chr7:26242600-26245800	Weak transcription	Placenta	Placenta
29	chr7:26242600-26245800	Transcr. at gene 5' and 3'	A549	lung
30	chr7:26242600-26246600	Weak transcription	Pancreas	Pancrea
31	chr7:26242600-26247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:26242600-26247200	Weak transcription	Lung	lung
33	chr7:26242600-26249200	Weak transcription	Gastric	stomach
34	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
35	chr7:26242800-26244800	Enhancers	Adipose Nuclei	Adipose
36	chr7:26242800-26244800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:26242800-26245400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
38	chr7:26242800-26245400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:26242800-26246400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:26243000-26245400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:26243000-26245600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:26243200-26245400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
44	chr7:26243200-26245400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:26243200-26245600	Weak transcription	Colonic Mucosa	Colon
46	chr7:26243400-26244600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
47	chr7:26243400-26244600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:26243400-26244600	Enhancers	Small Intestine	intestine
49	chr7:26243400-26244800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr7:26243400-26245000	Active TSS	GM12878-XiMat	blood

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