Variant report

Variant	rs73960407
Chromosome Location	chr2:98504457-98504458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55804443	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55853292	0.86[AFR][1000 genomes]
rs56319654	1.00[AMR][1000 genomes]
rs56954126	1.00[AMR][1000 genomes]
rs58576615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59444417	0.81[AFR][1000 genomes]
rs60567628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363543	0.84[AFR][1000 genomes]
rs62156482	0.84[AFR][1000 genomes]
rs62156488	0.86[AFR][1000 genomes]
rs62156509	0.84[AFR][1000 genomes]
rs73960406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960430	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7576509	0.83[AFR][1000 genomes];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	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98500800-98505000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98500800-98505000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:98500800-98505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:98501000-98504600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:98501200-98505200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr2:98501600-98504800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:98502000-98504600	ZNF genes & repeats	Dnd41	blood
8	chr2:98502000-98505000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:98502400-98504600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr2:98502600-98504600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:98502600-98504600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:98502600-98504600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:98502600-98505400	ZNF genes & repeats	GM12878-XiMat	blood
14	chr2:98502800-98504600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:98503200-98504600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:98503200-98504600	Strong transcription	Adipose Nuclei	Adipose
17	chr2:98503200-98504600	Strong transcription	Brain Cingulate Gyrus	brain
18	chr2:98503200-98504600	Strong transcription	Brain Hippocampus Middle	brain
19	chr2:98503200-98504600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:98503200-98504600	Strong transcription	NHLF	lung
21	chr2:98503400-98504600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:98503400-98504600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:98503400-98504600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:98503400-98504800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:98503400-98504800	Strong transcription	HepG2	liver
26	chr2:98503400-98505000	Weak transcription	Fetal Brain Male	brain
27	chr2:98503400-98505200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:98503400-98505800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:98503600-98504600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:98503600-98504800	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98503600-98504800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:98503600-98509000	Weak transcription	Small Intestine	intestine
33	chr2:98503600-98522800	Weak transcription	HUVEC	blood vessel
34	chr2:98503800-98504600	Strong transcription	Liver	Liver
35	chr2:98503800-98504600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:98503800-98504600	Strong transcription	Osteobl	bone
37	chr2:98503800-98505000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:98503800-98505400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:98503800-98505400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:98503800-98505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:98503800-98505800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:98503800-98508000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:98503800-98508200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:98503800-98508800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:98503800-98509000	Weak transcription	Stomach Mucosa	stomach
46	chr2:98503800-98509800	Weak transcription	NH-A	brain
47	chr2:98503800-98516400	Weak transcription	HMEC	breast
48	chr2:98503800-98517200	Weak transcription	HSMM	muscle
49	chr2:98503800-98522600	Weak transcription	Fetal Kidney	kidney
50	chr2:98503800-98522800	Weak transcription	K562	blood

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