Variant report

Variant	rs10950619
Chromosome Location	chr7:16446616-16446617
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	chr7:16446305..16449837-chr7:16459881..16462752,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10240752	0.81[CEU][hapmap]
rs10257504	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10272029	0.81[CEU][hapmap]
rs10464287	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11976934	0.88[EUR][1000 genomes]
rs17617900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680292	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28512480	0.83[EUR][1000 genomes]
rs56206818	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56223703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56335840	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60989361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461255	0.86[EUR][1000 genomes]
rs66743577	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947550	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6949112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6949292	0.81[CEU][hapmap]
rs6955398	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958802	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7457079	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7782939	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9655136	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs9691296	0.85[EUR][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16439800-16450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:16440000-16449000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:16440200-16452600	Weak transcription	Pancreas	Pancrea
5	chr7:16440400-16449000	Weak transcription	HSMM	muscle
6	chr7:16440400-16450000	Weak transcription	Fetal Stomach	stomach
7	chr7:16440400-16450400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:16440400-16452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:16440400-16452600	Weak transcription	Gastric	stomach
10	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:16442600-16449000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:16443400-16449400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:16443400-16451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:16443400-16452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:16443600-16449000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:16443600-16449600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:16443600-16450200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:16443600-16450200	Weak transcription	Left Ventricle	heart
19	chr7:16443600-16456400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:16444000-16450800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16444400-16450000	Weak transcription	K562	blood

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