Variant report

Variant	rs73410880
Chromosome Location	chr12:120552824-120552825
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
2	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
3	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
4	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
5	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
6	chr12:120551430..120553069-chr12:120632996..120634781,2	MCF-7	breast:
7	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
8	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
9	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
10	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
11	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
12	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57194876	1.00[AMR][1000 genomes]
rs59064739	1.00[AMR][1000 genomes]
rs59676660	1.00[AFR][1000 genomes];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]
rs73410883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
3	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
5	chr12:120542200-120553000	Weak transcription	Aorta	Aorta
6	chr12:120543400-120553000	Weak transcription	Fetal Heart	heart
7	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120544400-120553200	Strong transcription	Fetal Intestine Small	intestine
9	chr12:120546600-120553200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:120548600-120553000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:120548800-120553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:120549200-120553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:120549600-120553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:120549800-120553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:120550000-120553000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:120550800-120553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:120551200-120553000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:120551200-120553000	Strong transcription	A549	lung
21	chr12:120551200-120553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:120551600-120553000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr12:120551600-120553000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr12:120551600-120553400	Genic enhancers	Fetal Thymus	thymus
25	chr12:120551600-120553600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:120551800-120553000	Genic enhancers	Lung	lung
27	chr12:120551800-120553200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:120552000-120553000	Weak transcription	Fetal Lung	lung
29	chr12:120552200-120553000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:120552200-120553000	Genic enhancers	Esophagus	oesophagus
31	chr12:120552200-120553000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr12:120552200-120553200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:120552200-120553200	Genic enhancers	Placenta	Placenta
34	chr12:120552200-120553200	Genic enhancers	Gastric	stomach
35	chr12:120552200-120553200	Enhancers	Left Ventricle	heart
36	chr12:120552200-120553400	Genic enhancers	Fetal Stomach	stomach
37	chr12:120552200-120553400	Enhancers	Pancreas	Pancrea
38	chr12:120552200-120553600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:120552200-120553600	Enhancers	Small Intestine	intestine
40	chr12:120552200-120553600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr12:120552200-120554200	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr12:120552400-120553000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:120552400-120553000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:120552400-120553000	Enhancers	Colon Smooth Muscle	Colon
45	chr12:120552400-120553000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:120552400-120553000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:120552400-120553000	Genic enhancers	HepG2	liver
48	chr12:120552400-120553000	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:120552400-120553200	Enhancers	Right Atrium	heart
50	chr12:120552400-120553400	Enhancers	Primary B cells from peripheral blood	blood

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