Variant report

Variant	rs12580580
Chromosome Location	chr12:8192590-8192591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8183829..8185569-chr12:8189686..8192591,2	K562	blood:
2	chr12:8188281..8192732-chr12:8193522..8196171,4	K562	blood:
3	chr12:8184049..8188047-chr12:8189263..8193320,7	MCF-7	breast:
4	chr12:8189818..8192986-chr12:8193522..8196804,4	K562	blood:

Variant related genes	Relation type
ENSG00000065970	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11829998	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11835082	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11837108	0.98[ASN][1000 genomes]
rs12580604	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3759281	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3782682	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8186600-8192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:8187600-8192600	Genic enhancers	Fetal Muscle Leg	muscle
3	chr12:8191400-8200400	Weak transcription	Small Intestine	intestine
4	chr12:8191600-8192600	Weak transcription	HepG2	liver
5	chr12:8191600-8192800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:8191600-8196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:8191600-8205600	Strong transcription	Fetal Intestine Small	intestine
8	chr12:8191800-8192600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:8191800-8192600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:8191800-8192600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:8191800-8192600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:8191800-8192600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:8191800-8192600	Weak transcription	GM12878-XiMat	blood
14	chr12:8191800-8193400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:8191800-8194200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:8191800-8196200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:8191800-8196200	Weak transcription	HUVEC	blood vessel
18	chr12:8191800-8197800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:8191800-8198400	Weak transcription	A549	lung
20	chr12:8191800-8198600	Strong transcription	Spleen	Spleen
21	chr12:8191800-8202600	Strong transcription	Primary B cells from cord blood	blood
22	chr12:8191800-8208400	Strong transcription	Dnd41	blood
23	chr12:8192000-8192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:8192000-8192600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:8192000-8192600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:8192000-8192600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:8192000-8192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:8192000-8192600	Weak transcription	Fetal Kidney	kidney
29	chr12:8192000-8192600	Enhancers	Right Ventricle	heart
30	chr12:8192000-8192600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:8192000-8192600	Weak transcription	NHEK	skin
32	chr12:8192000-8192800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:8192000-8192800	Enhancers	Fetal Heart	heart
34	chr12:8192000-8193000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:8192000-8193200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:8192000-8193200	Weak transcription	HSMMtube	muscle
37	chr12:8192000-8193400	Weak transcription	Fetal Brain Female	brain
38	chr12:8192000-8193400	Weak transcription	Psoas Muscle	Psoas
39	chr12:8192000-8193400	Weak transcription	NH-A	brain
40	chr12:8192000-8193600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:8192000-8194000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:8192000-8194400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:8192000-8194800	Weak transcription	NHDF-Ad	bronchial
44	chr12:8192000-8195000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:8192000-8195000	Weak transcription	Fetal Brain Male	brain
46	chr12:8192000-8195000	Weak transcription	HSMM	muscle
47	chr12:8192000-8196000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:8192000-8196000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:8192000-8196000	Weak transcription	Hela-S3	cervix
50	chr12:8192000-8196400	Weak transcription	HMEC	breast

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