Variant report

Variant	rs7604619
Chromosome Location	chr2:151463554-151463555
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151342696..151344823-chr2:151461829..151464525,2	MCF-7	breast:
2	chr2:151340761..151344289-chr2:151463016..151468103,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10469691	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10469692	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10930161	0.86[ASN][1000 genomes]
rs10930186	0.81[ASN][1000 genomes]
rs12615315	0.98[EUR][1000 genomes]
rs2340857	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2340858	0.87[ASN][1000 genomes]
rs2340859	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2340864	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2341070	0.81[ASN][1000 genomes]
rs34849534	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4355108	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs4438475	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4664679	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6720091	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6757157	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs751614	0.81[ASN][1000 genomes]
rs7571312	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv961732	chr2:151459987-151466342	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151458200-151469400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:151458600-151467000	Weak transcription	NHEK	skin
3	chr2:151458600-151469400	Weak transcription	Aorta	Aorta
4	chr2:151458800-151464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:151462200-151465400	Enhancers	Dnd41	blood
6	chr2:151462800-151464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:151462800-151464800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:151462800-151466600	Enhancers	NHDF-Ad	bronchial
9	chr2:151462800-151471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:151463000-151464200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:151463000-151464200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:151463000-151464400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:151463000-151464600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:151463000-151464600	Enhancers	HSMM	muscle
15	chr2:151463000-151464600	Enhancers	Osteobl	bone
16	chr2:151463000-151467400	Enhancers	HSMMtube	muscle
17	chr2:151463000-151467600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:151463000-151467600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:151463200-151463600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:151463200-151464600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:151463200-151466200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:151463400-151467600	Enhancers	NHLF	lung

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