Variant report

Variant	rs56977093
Chromosome Location	chr12:123014355-123014356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:
2	chr12:123013745..123015301-chr12:123046415..123049313,2	K562	blood:
3	chr12:122880690..122882401-chr12:123012980..123014769,2	K562	blood:

Variant related genes	Relation type
ENSG00000255972	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12302908	0.83[AMR][1000 genomes]
rs55935830	0.84[AFR][1000 genomes]
rs56019922	0.81[AFR][1000 genomes]
rs56990369	0.84[AFR][1000 genomes]
rs57142071	0.81[AFR][1000 genomes]
rs57766838	0.85[AFR][1000 genomes]
rs58276954	0.84[AFR][1000 genomes]
rs58459934	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062446	0.85[AFR][1000 genomes]
rs61275910	0.81[AFR][1000 genomes]
rs61585633	0.93[AFR][1000 genomes]
rs7134209	0.81[AFR][1000 genomes]
rs7297776	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310898	0.81[AFR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123014600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:123012400-123022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:123012400-123029400	Weak transcription	Ovary	ovary
4	chr12:123012400-123035000	Weak transcription	Lung	lung
5	chr12:123012400-123036600	Weak transcription	Esophagus	oesophagus
6	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
9	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
10	chr12:123012600-123014800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:123012600-123017400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:123012600-123017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:123012600-123018400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:123012600-123019400	Weak transcription	Placenta	Placenta
15	chr12:123012600-123021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123012600-123024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:123012600-123031600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:123012600-123032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:123012600-123036600	Weak transcription	Left Ventricle	heart
20	chr12:123012600-123042600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
22	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:123012800-123018600	Weak transcription	Fetal Intestine Large	intestine
24	chr12:123012800-123020200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:123012800-123021400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123012800-123027600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:123012800-123032000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:123012800-123032000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:123012800-123036200	Weak transcription	Brain Anterior Caudate	brain
30	chr12:123012800-123036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:123012800-123037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:123012800-123037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:123012800-123042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:123012800-123042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
37	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:123013000-123014600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:123013000-123015800	Flanking Active TSS	GM12878-XiMat	blood
40	chr12:123013000-123017000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123013000-123017200	Weak transcription	NH-A	brain
42	chr12:123013000-123017800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:123013000-123017800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:123013000-123018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:123013000-123021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:123013000-123021400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:123013000-123021400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:123013000-123021400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:123013000-123029400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:123013000-123029400	Weak transcription	Rectal Mucosa Donor 29	rectum

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