Variant report

Variant	rs7980930
Chromosome Location	chr12:48205065-48205066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48194186..48197622-chr12:48205034..48208393,5	K562	blood:
2	chr12:48202920..48205906-chr12:48322070..48325166,3	MCF-7	breast:
3	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
4	chr12:48194186..48196955-chr12:48205034..48206864,2	K562	blood:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11837686	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814620	1.00[ASN][1000 genomes]
rs12820931	1.00[ASN][1000 genomes]
rs12828203	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828577	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122326	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34248545	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34785684	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392237	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580638	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71462981	1.00[ASN][1000 genomes]
rs7299689	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303453	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971594	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv999028	chr12:48199301-48209132	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48182000-48206400	Weak transcription	HepG2	liver
2	chr12:48199400-48206400	Weak transcription	Fetal Brain Female	brain
3	chr12:48199800-48206800	Enhancers	Spleen	Spleen
4	chr12:48200000-48205800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:48200200-48206600	Enhancers	Lung	lung
6	chr12:48200400-48205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48200800-48205800	Enhancers	Brain Hippocampus Middle	brain
8	chr12:48201000-48206000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:48201000-48206400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48201000-48206400	Enhancers	Dnd41	blood
11	chr12:48201200-48205800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:48201200-48206400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:48201200-48206600	Enhancers	Placenta	Placenta
14	chr12:48201400-48205800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:48202400-48205400	Weak transcription	Fetal Brain Male	brain
16	chr12:48202400-48206400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:48202400-48208200	Weak transcription	Ovary	ovary
18	chr12:48202600-48205800	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:48202600-48206400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:48202800-48205200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:48202800-48205200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:48202800-48205200	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr12:48202800-48205800	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:48202800-48206000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:48202800-48206200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:48202800-48206200	Enhancers	Adipose Nuclei	Adipose
27	chr12:48203000-48205800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:48203000-48206000	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:48203200-48206200	Enhancers	Primary B cells from cord blood	blood
30	chr12:48203600-48208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr12:48203800-48205200	Enhancers	NHDF-Ad	bronchial
32	chr12:48203800-48205800	Enhancers	Right Atrium	heart
33	chr12:48203800-48205800	Enhancers	Right Ventricle	heart
34	chr12:48203800-48205800	Enhancers	NHLF	lung
35	chr12:48203800-48205800	Enhancers	Osteobl	bone
36	chr12:48203800-48206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:48203800-48206200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:48203800-48206200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:48203800-48206200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:48203800-48206400	Enhancers	Left Ventricle	heart
41	chr12:48203800-48206400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:48203800-48206600	Enhancers	Psoas Muscle	Psoas
43	chr12:48203800-48206800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:48203800-48208200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr12:48203800-48209000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:48203800-48209200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:48204000-48205200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:48204000-48205200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:48204000-48205200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:48204000-48205200	Genic enhancers	Fetal Muscle Leg	muscle

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