Variant report

Variant	rs7294383
Chromosome Location	chr12:122855565-122855566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122854927..122856628-chr12:122883485..122885618,2	K562	blood:
2	chr12:122854975..122857897-chr12:122863332..122865835,2	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	1.00[AMR][1000 genomes]
rs12297513	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	1.00[AMR][1000 genomes]
rs12303070	1.00[AMR][1000 genomes]
rs12303304	1.00[AMR][1000 genomes]
rs12305053	1.00[AMR][1000 genomes]
rs12312090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319914	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320418	1.00[AMR][1000 genomes]
rs7311062	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	1.00[AMR][1000 genomes]
rs7966324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	1.00[AMR][1000 genomes]
rs7976580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977242	0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs7980777	0.89[YRI][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
3	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
5	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
9	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
13	chr12:122846200-122856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122846200-122856000	Weak transcription	Right Ventricle	heart
15	chr12:122846200-122859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
18	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:122846400-122855600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:122846400-122856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:122846400-122860400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:122846600-122861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:122848000-122856000	Weak transcription	Esophagus	oesophagus
24	chr12:122848200-122855800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:122848200-122860400	Weak transcription	Fetal Thymus	thymus
26	chr12:122848200-122861400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:122848400-122855800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:122848400-122860400	Weak transcription	Colonic Mucosa	Colon
29	chr12:122848600-122855600	Weak transcription	Fetal Brain Female	brain
30	chr12:122848600-122856000	Weak transcription	Spleen	Spleen
31	chr12:122848600-122856200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:122848600-122861400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:122848800-122855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:122848800-122855800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:122848800-122855800	Weak transcription	Lung	lung
36	chr12:122848800-122856200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:122848800-122856200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:122849000-122855600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:122849000-122855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122849800-122856600	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:122851200-122855600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:122851400-122859400	Weak transcription	Left Ventricle	heart
43	chr12:122851400-122860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:122851400-122864200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:122851600-122855800	Weak transcription	Adipose Nuclei	Adipose
46	chr12:122851600-122859400	Weak transcription	Fetal Heart	heart
47	chr12:122851800-122855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:122851800-122857200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:122851800-122859400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:122851800-122862000	Weak transcription	Brain Cingulate Gyrus	brain

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