Variant report

Variant	rs2429248
Chromosome Location	chr7:150952830-150952831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:
2	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
3	chr7:150952243..150954405-chr7:150956858..150959573,2	K562	blood:

Variant related genes	Relation type
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1870238	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2242141	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2256864	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2414	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2446065	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2487152	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487154	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2487155	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2530458	0.82[EUR][1000 genomes]
rs2608288	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2608291	0.85[CHB][hapmap]
rs2608292	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608293	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2792434	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2792435	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2792436	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2792444	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800792	0.81[EUR][1000 genomes]
rs3800793	0.81[EUR][1000 genomes]
rs4725398	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4726009	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726010	0.97[ASN][1000 genomes]
rs6464134	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs758249	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs921987	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150950200-150953600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:150950200-150953600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:150950400-150973400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:150950600-150953600	Weak transcription	Gastric	stomach
5	chr7:150950600-150953800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:150950600-150955400	Weak transcription	Lung	lung
7	chr7:150950600-150955600	Weak transcription	Esophagus	oesophagus
8	chr7:150950600-150957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:150950600-150957800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:150950600-150958400	Weak transcription	Right Atrium	heart
11	chr7:150950600-150961400	Weak transcription	Spleen	Spleen
12	chr7:150950600-150965200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:150950600-150967600	Weak transcription	Pancreas	Pancrea
14	chr7:150950800-150953600	Weak transcription	Fetal Heart	heart
15	chr7:150951000-150965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:150951000-150969800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:150951000-150970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:150951200-150953600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:150951600-150968000	Weak transcription	Brain Germinal Matrix	brain
20	chr7:150951800-150953600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:150951800-150967600	Weak transcription	Fetal Brain Female	brain
22	chr7:150952000-150953000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr7:150952000-150953800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:150952000-150954400	Enhancers	Ovary	ovary
25	chr7:150952400-150953000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:150952600-150953600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:150952800-150958800	Weak transcription	Right Ventricle	heart

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