Variant report

Variant	rs73126814
Chromosome Location	chr1:222910211-222910212
allele	A/G
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	SP1	chr1:222909738-222910232	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:222908051-222911718	K562	blood:	n/a	n/a
3	SP1	chr1:222909706-222910235	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222829835..222832236-chr1:222908968..222911331,2	K562	blood:

Variant related genes	Relation type
FAM177B	TF binding region
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1986348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2936026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936056	0.83[EUR][1000 genomes]
rs2936057	0.83[EUR][1000 genomes]
rs3002137	0.83[EUR][1000 genomes]
rs3002138	0.83[EUR][1000 genomes]
rs3002140	0.83[EUR][1000 genomes]
rs3002150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008599	0.83[EUR][1000 genomes]
rs3008600	0.83[EUR][1000 genomes]
rs3008603	0.83[EUR][1000 genomes]
rs3008605	0.83[EUR][1000 genomes]
rs3008611	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008613	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3008635	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3008639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34290674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34851033	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4379681	0.83[EUR][1000 genomes]
rs73124815	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124822	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124862	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73124880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73124889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73124891	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73126803	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73126812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520650	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222887400-222912000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222887600-222912400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:222888200-222910400	Strong transcription	Fetal Thymus	thymus
4	chr1:222888400-222910800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:222888600-222910400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:222888600-222910800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:222888600-222911200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:222888600-222911400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:222889000-222911200	Strong transcription	Liver	Liver
10	chr1:222889000-222911400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:222889200-222910600	Strong transcription	Adipose Nuclei	Adipose
12	chr1:222892000-222911000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:222895200-222911600	Strong transcription	Primary T cells from cord blood	blood
14	chr1:222897400-222910600	Weak transcription	Pancreas	Pancrea
15	chr1:222901200-222911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:222901600-222911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:222903400-222912200	Weak transcription	NHEK	skin
18	chr1:222904000-222912800	Weak transcription	Esophagus	oesophagus
19	chr1:222904200-222910800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:222904600-222912800	Weak transcription	Ovary	ovary
21	chr1:222905000-222910600	Weak transcription	Small Intestine	intestine
22	chr1:222905200-222910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:222905200-222911600	Weak transcription	Colonic Mucosa	Colon
24	chr1:222905200-222911800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:222905600-222911200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:222905800-222910400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:222906200-222914000	Weak transcription	K562	blood
28	chr1:222906800-222910800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:222907400-222911200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:222907600-222911400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:222907600-222913400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:222907800-222910400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:222908200-222911400	Weak transcription	NH-A	brain
34	chr1:222908200-222913200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:222908400-222912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:222908600-222910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:222908600-222910800	Weak transcription	HSMM	muscle
38	chr1:222908600-222911000	Strong transcription	Fetal Stomach	stomach
39	chr1:222908600-222911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:222908600-222911200	Strong transcription	Fetal Intestine Small	intestine
41	chr1:222908600-222912000	Weak transcription	NHDF-Ad	bronchial
42	chr1:222908800-222910400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:222908800-222910600	Enhancers	Primary B cells from cord blood	blood
44	chr1:222908800-222911000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:222908800-222911200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:222908800-222911400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:222908800-222912200	Weak transcription	Brain Anterior Caudate	brain
48	chr1:222908800-222912200	Weak transcription	Dnd41	blood
49	chr1:222908800-222915600	Weak transcription	GM12878-XiMat	blood
50	chr1:222909000-222910800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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