Variant report

Variant	rs58459934
Chromosome Location	chr12:123021516-123021517
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	chr12:123010275..123013969-chr12:123021374..123025074,7	MCF-7	breast:
2	chr12:123020456..123023413-chr12:123028957..123031588,2	K562	blood:

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12302908	0.83[AMR][1000 genomes]
rs55935830	0.81[AFR][1000 genomes]
rs56977093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56990369	0.81[AFR][1000 genomes]
rs57766838	0.83[AFR][1000 genomes]
rs58276954	0.81[AFR][1000 genomes]
rs61062446	0.83[AFR][1000 genomes]
rs61585633	0.90[AFR][1000 genomes]
rs7297776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972727	0.92[AFR][1000 genomes]
rs7973067	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:123012400-123029400	Weak transcription	Ovary	ovary
3	chr12:123012400-123035000	Weak transcription	Lung	lung
4	chr12:123012400-123036600	Weak transcription	Esophagus	oesophagus
5	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
8	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
9	chr12:123012600-123024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:123012600-123031600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:123012600-123032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:123012600-123036600	Weak transcription	Left Ventricle	heart
13	chr12:123012600-123042600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
15	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:123012800-123027600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:123012800-123032000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:123012800-123032000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:123012800-123036200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:123012800-123036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:123012800-123037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:123012800-123037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:123012800-123042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:123012800-123042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
26	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
27	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:123013000-123029400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:123013000-123029400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:123013000-123030800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:123013000-123030800	Weak transcription	Fetal Lung	lung
32	chr12:123013000-123031800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:123013000-123037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
35	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:123013200-123034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:123013200-123035200	Weak transcription	Liver	Liver
38	chr12:123013200-123036200	Weak transcription	Fetal Kidney	kidney
39	chr12:123013200-123036600	Weak transcription	Spleen	Spleen
40	chr12:123013200-123037600	Weak transcription	Small Intestine	intestine
41	chr12:123013200-123045800	Strong transcription	Fetal Thymus	thymus
42	chr12:123013200-123050000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:123013400-123021600	Weak transcription	Fetal Brain Female	brain
46	chr12:123013400-123023800	Strong transcription	K562	blood
47	chr12:123013400-123041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
50	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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