Variant report

Variant	rs73957147
Chromosome Location	chr2:134401225-134401226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10928455	0.80[ASN][1000 genomes]
rs1432290	0.84[EUR][1000 genomes]
rs1432291	0.83[EUR][1000 genomes]
rs1653793	0.84[EUR][1000 genomes]
rs1653796	0.84[EUR][1000 genomes]
rs1653798	0.85[EUR][1000 genomes]
rs1669462	0.83[EUR][1000 genomes]
rs1669468	0.84[EUR][1000 genomes]
rs1669470	0.83[EUR][1000 genomes]
rs1669471	0.82[EUR][1000 genomes]
rs4954071	0.83[EUR][1000 genomes]
rs4954073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56366350	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561974	0.86[EUR][1000 genomes]
rs7564515	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7565361	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134395800-134402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134397600-134402000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:134398800-134401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:134398800-134402800	Enhancers	Brain Anterior Caudate	brain
5	chr2:134399200-134402000	Enhancers	Brain Angular Gyrus	brain
6	chr2:134399200-134402000	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:134399400-134401400	Enhancers	Fetal Lung	lung
8	chr2:134399400-134402000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:134399400-134402200	Enhancers	Brain Substantia Nigra	brain
10	chr2:134399400-134416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:134399800-134402000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:134399800-134402200	Enhancers	Fetal Heart	heart
13	chr2:134399800-134402800	Enhancers	Fetal Brain Male	brain
14	chr2:134400000-134401400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:134400000-134401400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:134400000-134401400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:134400000-134401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:134400200-134401400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:134400400-134401400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:134400400-134402000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:134400400-134403600	Enhancers	Brain Germinal Matrix	brain
22	chr2:134400400-134407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:134400600-134402600	Enhancers	Brain Hippocampus Middle	brain
24	chr2:134400800-134401600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:134400800-134402000	Enhancers	Fetal Muscle Leg	muscle
26	chr2:134400800-134403200	Enhancers	Fetal Brain Female	brain
27	chr2:134401200-134401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:134401200-134402000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:134401200-134402000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:134401200-134402200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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