Variant report

Variant	rs2331809
Chromosome Location	chr8:99221810-99221811
allele	C/T
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	POLR2A	chr8:99221484-99221859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99219998..99222653-chr8:99315063..99317794,2	MCF-7	breast:
2	chr8:99219935..99221824-chr8:99271736..99273785,2	MCF-7	breast:
3	chr8:99219727..99222711-chr8:99229918..99232191,2	MCF-7	breast:
4	chr8:99221591..99223138-chr8:99230730..99232275,2	MCF-7	breast:

Variant related genes	Relation type
NIPAL2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10093356	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093623	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093678	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093856	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095790	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10095887	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10100633	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10108460	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1109159	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11987536	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12677283	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680361	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680980	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1542289	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896763	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896768	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16896802	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485842	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2877460	0.87[ASN][1000 genomes]
rs2877495	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779721	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734389	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734390	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735539	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735540	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55908268	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56906975	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57644890	0.82[EUR][1000 genomes]
rs60414868	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468620	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991266	0.83[AFR][1000 genomes]
rs7009145	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680644	0.94[EUR][1000 genomes]
rs896417	0.98[EUR][1000 genomes];0.86[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99198200-99239200	Weak transcription	Lung	lung
3	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
7	chr8:99208000-99227600	Weak transcription	Esophagus	oesophagus
8	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
9	chr8:99213200-99223600	Weak transcription	HMEC	breast
10	chr8:99213200-99225800	Weak transcription	Fetal Heart	heart
11	chr8:99213200-99239800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:99214600-99223400	Weak transcription	NHEK	skin
13	chr8:99215000-99223600	Weak transcription	Gastric	stomach
14	chr8:99215000-99227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:99215400-99225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:99215400-99227600	Weak transcription	Ovary	ovary
17	chr8:99215800-99225000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
19	chr8:99216800-99224800	Weak transcription	Left Ventricle	heart
20	chr8:99217000-99229800	Weak transcription	Psoas Muscle	Psoas
21	chr8:99217000-99234400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:99217000-99234600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:99217200-99222800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:99217200-99223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99217200-99229200	Weak transcription	Aorta	Aorta
26	chr8:99217400-99227600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:99217400-99238800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:99217800-99222400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:99217800-99235000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:99217800-99238600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:99218200-99227600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:99218400-99223600	Weak transcription	HSMM	muscle
33	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:99219400-99222400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:99220600-99223600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:99220600-99223800	Weak transcription	Osteobl	bone
37	chr8:99220600-99224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:99220600-99224000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:99220600-99227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:99220600-99234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:99220800-99224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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