Variant report

Variant	rs1095970
Chromosome Location	chr2:74341567-74341568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74336985..74342809-chr2:74343895..74348590,10	MCF-7	breast:
2	chr2:74341140..74342698-chr2:74345165..74347541,2	MCF-7	breast:
3	chr2:74336308..74342547-chr2:74345865..74348984,6	K562	blood:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1026150	0.99[ASN][1000 genomes]
rs1095969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025827	0.91[ASN][1000 genomes]
rs1667615	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667616	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667622	0.97[ASN][1000 genomes]
rs1723283	0.99[ASN][1000 genomes]
rs1723284	0.99[ASN][1000 genomes]
rs1723290	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421753	0.99[ASN][1000 genomes]
rs3099822	0.94[ASN][1000 genomes]
rs3099823	0.94[ASN][1000 genomes]
rs3108161	0.97[ASN][1000 genomes]
rs3108162	0.94[ASN][1000 genomes]
rs34284832	0.87[ASN][1000 genomes]
rs35955502	0.85[ASN][1000 genomes]
rs6758220	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs702463	0.85[ASN][1000 genomes]
rs702464	0.85[ASN][1000 genomes]
rs828841	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828843	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828845	0.95[ASN][1000 genomes]
rs828846	0.95[ASN][1000 genomes]
rs828847	0.95[ASN][1000 genomes]
rs828848	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828850	0.94[ASN][1000 genomes]
rs828864	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs828865	0.89[ASN][1000 genomes]
rs828897	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828898	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828901	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1095970	FNBP1P1	cis	Thyroid	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74322200-74346600	Weak transcription	Hela-S3	cervix
2	chr2:74329600-74347000	Weak transcription	HSMMtube	muscle
3	chr2:74330200-74347000	Weak transcription	Aorta	Aorta
4	chr2:74330400-74346800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:74330600-74346600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:74330600-74347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:74330600-74347000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:74330600-74347000	Weak transcription	Pancreas	Pancrea
9	chr2:74330800-74346800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:74330800-74347000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:74331200-74347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:74332000-74342000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:74332000-74346400	Weak transcription	Dnd41	blood
14	chr2:74332000-74346800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:74332600-74346400	Weak transcription	GM12878-XiMat	blood
16	chr2:74332600-74347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:74332600-74347000	Weak transcription	Esophagus	oesophagus
18	chr2:74332800-74346800	Weak transcription	NHEK	skin
19	chr2:74333000-74346800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:74333200-74346800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:74333200-74347000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:74333600-74346600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:74335600-74346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:74336000-74347000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:74336200-74346600	Weak transcription	Primary T cells from cord blood	blood
26	chr2:74336200-74346600	Weak transcription	Monocytes-CD14+_RO01746	blood

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