Variant report

Variant	rs7307052
Chromosome Location	chr12:123100144-123100145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123094528..123096969-chr12:123098267..123101095,2	K562	blood:

Variant related genes	Relation type
ENSG00000184445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12301352	1.00[MEX][hapmap]
rs55817227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935830	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56019922	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56990369	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57142071	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58276954	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062446	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61585633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297776	0.83[AFR][1000 genomes]
rs7310898	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960674	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973067	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
9	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:123015600-123115000	Strong transcription	Dnd41	blood
11	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
12	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
16	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:123077000-123106400	Weak transcription	Right Ventricle	heart
24	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:123077600-123115000	Weak transcription	Esophagus	oesophagus
26	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:123081000-123116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:123084600-123112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:123086200-123103400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:123086200-123112200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:123086400-123111800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:123086400-123115000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:123086400-123115000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:123086400-123116400	Strong transcription	Fetal Thymus	thymus
36	chr12:123087000-123116200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:123087400-123102000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:123087400-123115000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:123087600-123103600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
41	chr12:123089000-123115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:123089200-123101200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:123089200-123101800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:123090200-123100200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:123091800-123107200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:123092400-123109000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:123093400-123105800	Strong transcription	Thymus	Thymus
48	chr12:123093600-123109600	Strong transcription	Fetal Stomach	stomach
49	chr12:123094000-123100600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:123094000-123101800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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