Variant report

Variant	rs73038195
Chromosome Location	chr12:2024092-2024093
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	chr12:2024067..2025743-chr12:2043687..2046563,2	MCF-7	breast:
2	chr12:2023041..2025540-chr12:2026529..2030092,4	K562	blood:

Variant related genes	Relation type
ENSG00000235049	Chromatin interaction
ENSG00000256706	Chromatin interaction
ENSG00000151062	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11829061	0.80[EUR][1000 genomes]
rs11833546	1.00[ASN][1000 genomes]
rs11838338	0.80[EUR][1000 genomes]
rs12300820	0.88[EUR][1000 genomes]
rs4765855	0.88[EUR][1000 genomes]
rs4765856	0.88[EUR][1000 genomes]
rs4765865	1.00[ASN][1000 genomes]
rs58041839	0.80[EUR][1000 genomes]
rs60708075	0.90[EUR][1000 genomes]
rs60945277	0.80[EUR][1000 genomes]
rs61085710	0.80[EUR][1000 genomes]
rs61386831	0.90[EUR][1000 genomes]
rs61457024	0.90[EUR][1000 genomes]
rs73032415	0.85[EUR][1000 genomes]
rs73032427	0.85[EUR][1000 genomes]
rs73032438	0.89[EUR][1000 genomes]
rs73032440	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032452	0.90[EUR][1000 genomes]
rs73036228	0.90[EUR][1000 genomes]
rs73036240	0.90[EUR][1000 genomes]
rs73038172	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041873	1.00[ASN][1000 genomes]
rs73041897	1.00[ASN][1000 genomes]
rs73043810	1.00[ASN][1000 genomes]
rs73043822	1.00[ASN][1000 genomes]
rs758160	0.86[EUR][1000 genomes]
rs7964656	0.81[EUR][1000 genomes]
rs7966806	0.89[EUR][1000 genomes]
rs7969511	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669070	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv898600	chr12:2020045-2056363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2018400-2024400	Weak transcription	Spleen	Spleen
2	chr12:2020400-2027000	Enhancers	Fetal Thymus	thymus
3	chr12:2020400-2027400	Enhancers	Fetal Muscle Leg	muscle
4	chr12:2020600-2026000	Enhancers	Fetal Muscle Trunk	muscle
5	chr12:2021800-2024400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:2021800-2024400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:2021800-2027400	Weak transcription	Psoas Muscle	Psoas
8	chr12:2022200-2024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:2022400-2026200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:2022400-2027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:2022400-2027600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:2022600-2028800	Enhancers	Fetal Heart	heart
13	chr12:2023200-2025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:2023800-2024600	Enhancers	Thymus	Thymus
15	chr12:2023800-2024800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:2024000-2024600	Enhancers	Dnd41	blood
17	chr12:2024000-2026200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:2024000-2029000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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