Variant report

Variant	rs59676660
Chromosome Location	chr12:120540004-120540005
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120539632..120542312-chr12:120549101..120550620,2	MCF-7	breast:
2	chr12:120537048..120541245-chr12:120553607..120557723,6	MCF-7	breast:
3	chr12:120539799..120542911-chr12:120545962..120548810,4	MCF-7	breast:
4	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
5	chr12:120538101..120541195-chr12:120726908..120731130,5	MCF-7	breast:
6	chr12:120539029..120543839-chr12:120726926..120732179,7	MCF-7	breast:
7	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
8	chr12:120538883..120540818-chr12:120636912..120639321,2	MCF-7	breast:
9	chr12:120536601..120538960-chr12:120539868..120542086,3	K562	blood:
10	chr12:120524045..120526996-chr12:120539011..120541039,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57194876	1.00[AMR][1000 genomes]
rs59064739	1.00[AMR][1000 genomes]
rs61313213	1.00[AMR][1000 genomes]
rs73408782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408791	1.00[AMR][1000 genomes]
rs73408793	1.00[AMR][1000 genomes]
rs73408794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410805	1.00[AMR][1000 genomes]
rs73410815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410818	1.00[AMR][1000 genomes]
rs73410825	1.00[AMR][1000 genomes]
rs73410869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
4	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:120529000-120546800	Strong transcription	Dnd41	blood
8	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
10	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:120532800-120541600	Weak transcription	K562	blood
12	chr12:120533600-120542800	Strong transcription	A549	lung
13	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
14	chr12:120534200-120542800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:120534200-120542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120534200-120542800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:120534600-120546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:120534600-120547200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:120534600-120548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:120536000-120541800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:120536200-120543000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:120536800-120540800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:120536800-120541200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:120536800-120541800	Genic enhancers	Esophagus	oesophagus
26	chr12:120537000-120540800	Genic enhancers	Right Ventricle	heart
27	chr12:120537000-120540800	Weak transcription	Hela-S3	cervix
28	chr12:120537000-120543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:120537200-120541000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:120537200-120541000	Weak transcription	Osteobl	bone
31	chr12:120537400-120541600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:120537400-120541600	Genic enhancers	Gastric	stomach
33	chr12:120537400-120542400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr12:120537400-120542600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:120537600-120540800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:120537600-120541400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr12:120537600-120541600	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr12:120537800-120540200	Weak transcription	Aorta	Aorta
39	chr12:120537800-120540200	Enhancers	Brain Anterior Caudate	brain
40	chr12:120537800-120540200	Genic enhancers	Pancreas	Pancrea
41	chr12:120537800-120541000	Enhancers	Left Ventricle	heart
42	chr12:120537800-120543400	Genic enhancers	Spleen	Spleen
43	chr12:120537800-120544400	Genic enhancers	Placenta	Placenta
44	chr12:120538000-120540400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:120538000-120540400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:120538000-120540400	Genic enhancers	Brain Germinal Matrix	brain
47	chr12:120538000-120540400	Enhancers	Brain Substantia Nigra	brain
48	chr12:120538000-120540400	Enhancers	Fetal Heart	heart
49	chr12:120538000-120540400	Enhancers	Ovary	ovary
50	chr12:120538000-120540600	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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