Variant report

Variant	rs74074445
Chromosome Location	chr12:32324140-32324141
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	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12304056	1.00[AMR][1000 genomes]
rs12304066	1.00[AMR][1000 genomes]
rs161972	1.00[AMR][1000 genomes]
rs16919377	1.00[AMR][1000 genomes]
rs55802552	1.00[AMR][1000 genomes]
rs57735320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58039881	1.00[AMR][1000 genomes]
rs58186216	1.00[AMR][1000 genomes]
rs59313683	1.00[AMR][1000 genomes]
rs59549999	1.00[AMR][1000 genomes]
rs60994230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295834	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072003	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072005	1.00[AMR][1000 genomes]
rs74072006	1.00[AMR][1000 genomes]
rs74074440	1.00[AMR][1000 genomes]
rs74074443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957620	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7958620	0.92[AFR][1000 genomes];1.00[AMR][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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
3	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
4	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32300200-32336600	Weak transcription	A549	lung
7	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:32309400-32325000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:32309800-32336600	Weak transcription	HMEC	breast
16	chr12:32313200-32325600	Weak transcription	Ovary	ovary
17	chr12:32313200-32336600	Weak transcription	NH-A	brain
18	chr12:32313400-32331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:32313600-32325600	Weak transcription	Osteobl	bone
21	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
22	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:32315600-32336600	Weak transcription	HSMM	muscle
24	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:32318000-32327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:32319800-32330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:32319800-32331200	Weak transcription	Fetal Brain Female	brain
28	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:32321400-32326000	Weak transcription	Fetal Stomach	stomach
31	chr12:32321600-32331600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:32323000-32324200	Enhancers	Fetal Heart	heart
33	chr12:32323000-32325400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:32323000-32325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:32323000-32325800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:32323200-32325800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:32323400-32325800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:32323600-32324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:32323600-32324400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:32323600-32324600	Enhancers	Left Ventricle	heart
41	chr12:32323600-32325800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:32324000-32324200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:32324000-32324200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:32324000-32324200	Enhancers	HSMMtube	muscle
46	chr12:32324000-32324400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:32324000-32324400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:32324000-32324600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:32324000-32325000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links