Variant report

Variant	rs73167887
Chromosome Location	chr2:10797818-10797819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10788856..10790515-chr2:10797062..10799829,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2171771	1.00[AMR][1000 genomes]
rs56702784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56914795	1.00[AMR][1000 genomes]
rs57125237	1.00[AMR][1000 genomes]
rs57309175	1.00[AMR][1000 genomes]
rs57382387	1.00[AMR][1000 genomes]
rs57464659	1.00[AMR][1000 genomes]
rs57597544	1.00[AMR][1000 genomes]
rs58214362	1.00[AMR][1000 genomes]
rs58838965	1.00[AMR][1000 genomes]
rs58886768	1.00[AMR][1000 genomes]
rs59114654	1.00[AMR][1000 genomes]
rs59640725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60016454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60286502	1.00[AMR][1000 genomes]
rs60384217	1.00[AMR][1000 genomes]
rs60489255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61167760	1.00[AMR][1000 genomes]
rs6749287	1.00[AMR][1000 genomes]
rs73165980	1.00[AMR][1000 genomes]
rs73167824	1.00[AMR][1000 genomes]
rs73167845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167897	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169906	1.00[AMR][1000 genomes]
rs73169907	1.00[AMR][1000 genomes]
rs73169908	1.00[AMR][1000 genomes]
rs73169912	0.97[AFR][1000 genomes]
rs73169917	1.00[AMR][1000 genomes]
rs73169921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169922	1.00[AMR][1000 genomes]
rs73169924	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169925	1.00[AMR][1000 genomes]
rs73169929	1.00[AMR][1000 genomes]
rs73169933	1.00[AMR][1000 genomes]
rs7587281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607468	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers 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	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:10776200-10803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:10779400-10801400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:10779600-10803600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:10780600-10800000	Weak transcription	Right Atrium	heart
9	chr2:10781600-10799800	Strong transcription	Liver	Liver
10	chr2:10781600-10800400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:10781800-10803000	Strong transcription	Adipose Nuclei	Adipose
12	chr2:10782000-10803200	Strong transcription	Dnd41	blood
13	chr2:10782200-10808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:10784800-10803200	Strong transcription	A549	lung
15	chr2:10785800-10800200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:10786000-10800400	Strong transcription	HepG2	liver
17	chr2:10786000-10800600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:10786200-10800400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:10786200-10802800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:10786200-10803600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:10786800-10798400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:10786800-10803600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:10787000-10803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:10787200-10802600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
29	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
30	chr2:10787600-10800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:10788000-10803400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
33	chr2:10788400-10800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
35	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:10789200-10799800	Strong transcription	Left Ventricle	heart
37	chr2:10789200-10803200	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:10789400-10807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:10789400-10808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:10790000-10808400	Strong transcription	Fetal Thymus	thymus
41	chr2:10790400-10800200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:10791600-10808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:10792400-10799800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:10792600-10799400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:10792800-10798000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:10792800-10808200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:10793400-10798200	Strong transcription	HSMM	muscle
48	chr2:10793400-10799400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:10794000-10798400	Weak transcription	Brain Germinal Matrix	brain

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