Variant report

Variant	rs73167897
Chromosome Location	chr2:10808380-10808381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10264086..10264925-chr2:10808106..10808865,2	MCF-7	breast:
2	chr2:10623445..10625736-chr2:10807229..10809544,2	MCF-7	breast:
3	chr2:10799286..10801615-chr2:10807148..10810478,3	K562	blood:
4	chr2:10804991..10808517-chr2:10827670..10830075,3	K562	blood:
5	chr2:10806873..10808686-chr2:10824420..10826799,2	K562	blood:
6	chr2:10807064..10809512-chr2:10830109..10832078,2	K562	blood:
7	chr2:10704742..10707402-chr2:10805825..10808809,2	K562	blood:
8	chr2:10807489..10810469-chr2:10811002..10812605,2	MCF-7	breast:
9	chr2:10805936..10808564-chr2:10830578..10832851,2	K562	blood:
10	chr18:37828564..37829564-chr2:10808346..10809104,2	MCF-7	breast:
11	chr2:10578985..10580934-chr2:10807616..10809807,2	K562	blood:
12	chr2:10578985..10581205-chr2:10807616..10809942,2	K562	blood:
13	chr2:10584192..10588618-chr2:10803000..10809655,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000243819	Chromatin interaction

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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56914795	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57125237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309175	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57382387	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57464659	1.00[AMR][1000 genomes]
rs57597544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58838965	1.00[AMR][1000 genomes]
rs58886768	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59114654	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59640725	1.00[AMR][1000 genomes]
rs60016454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60286502	1.00[AMR][1000 genomes]
rs60384217	1.00[AMR][1000 genomes]
rs60489255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61167760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73165980	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167845	1.00[AMR][1000 genomes]
rs73167849	1.00[AMR][1000 genomes]
rs73167864	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73167901	0.87[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	0.87[AFR][1000 genomes]
rs73169917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169921	1.00[AMR][1000 genomes]
rs73169922	1.00[AMR][1000 genomes]
rs73169924	1.00[AMR][1000 genomes]
rs73169925	1.00[AMR][1000 genomes]
rs73169929	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73169933	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587281	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7607468	0.82[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
8	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
9	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
10	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
11	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:10789400-10808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:10790000-10808400	Strong transcription	Fetal Thymus	thymus
14	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:10794000-10823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:10794200-10817200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
18	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:10796000-10808400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:10796600-10808800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:10796800-10808400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:10797400-10823600	Weak transcription	Psoas Muscle	Psoas
24	chr2:10799200-10815400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:10799400-10823200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:10799800-10823200	Weak transcription	Colonic Mucosa	Colon
28	chr2:10800000-10808400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:10800200-10808400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:10800400-10808400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:10800400-10812000	Weak transcription	Pancreas	Pancrea
33	chr2:10800400-10812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:10801800-10808400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:10801800-10808400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:10801800-10808600	Strong transcription	Hela-S3	cervix
37	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:10802600-10812800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:10802800-10811600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:10802800-10815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:10802800-10823400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:10803000-10815000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:10804200-10808400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10804200-10808400	Strong transcription	Liver	Liver
46	chr2:10804200-10808600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:10804400-10808400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:10804400-10808400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:10804400-10808400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:10804400-10808400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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