Variant report

Variant	rs7131997
Chromosome Location	chr12:32309357-32309358
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	chr12:32308162..32310894-chr12:32324401..32326618,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10844138	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844145	0.91[CEU][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.90[EUR][1000 genomes]
rs10844146	0.90[EUR][1000 genomes]
rs11051816	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051825	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051827	0.97[EUR][1000 genomes]
rs11051834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151015	0.95[ASN][1000 genomes]
rs17528171	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34199263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34440002	0.84[EUR][1000 genomes]
rs4931617	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931618	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4931620	0.83[EUR][1000 genomes]
rs61926906	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61926927	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135483	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7312331	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967654	0.90[CEU][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287600-32312200	Weak transcription	HSMMtube	muscle
3	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
4	chr12:32292200-32312200	Weak transcription	HSMM	muscle
5	chr12:32293000-32316000	Weak transcription	HUVEC	blood vessel
6	chr12:32293600-32312400	Weak transcription	Fetal Stomach	stomach
7	chr12:32293600-32323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
9	chr12:32294200-32318200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:32296200-32313800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:32298400-32312800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:32299400-32312600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:32300200-32319200	Weak transcription	GM12878-XiMat	blood
16	chr12:32300200-32336600	Weak transcription	A549	lung
17	chr12:32300400-32312600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:32301400-32312400	Weak transcription	Osteobl	bone
19	chr12:32301600-32312200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:32301600-32316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:32301800-32312800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:32302200-32312400	Weak transcription	NH-A	brain
23	chr12:32303000-32317800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:32303000-32319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:32303400-32314600	Weak transcription	Primary B cells from cord blood	blood
27	chr12:32303800-32319400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:32304800-32309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:32304800-32317800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:32306400-32309800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:32306600-32309400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:32306800-32309600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:32307000-32309600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:32307000-32309600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:32307200-32309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:32307400-32309400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:32307400-32309400	Enhancers	Fetal Brain Female	brain
38	chr12:32307400-32309600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:32307600-32309400	Enhancers	Fetal Brain Male	brain
40	chr12:32307600-32312600	Weak transcription	Spleen	Spleen
41	chr12:32308000-32309600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:32308000-32312600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:32308600-32311200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:32308800-32309400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:32308800-32309400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:32308800-32309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:32308800-32309400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:32308800-32309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:32308800-32309400	Enhancers	Brain Hippocampus Middle	brain
50	chr12:32308800-32309400	Enhancers	Fetal Heart	heart

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