Variant report

Variant	rs238523
Chromosome Location	chr12:58124803-58124804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58108037..58111841-chr12:58122870..58126206,3	K562	blood:
2	chr12:58119848..58122577-chr12:58123317..58125774,4	K562	blood:
3	chr12:57911913..57914667-chr12:58122854..58126849,5	K562	blood:

Variant related genes	Relation type
ENSG00000208028	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1678517	1.00[AMR][1000 genomes]
rs1689602	1.00[AMR][1000 genomes]
rs474738	1.00[AMR][1000 genomes]
rs7307835	0.87[LWK][hapmap]
rs799266	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1851618	chr12:58109302-58131947	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58118400-58132000	Strong transcription	Primary T cells from cord blood	blood
2	chr12:58119200-58132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:58119600-58130400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:58119600-58130400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:58119600-58131200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:58119600-58131400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:58119600-58132400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:58119600-58132800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:58119600-58133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:58119800-58128000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:58119800-58128600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:58120000-58129000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:58120000-58131400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:58120200-58129000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:58120200-58130200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58120400-58131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:58120400-58132400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:58120600-58129200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:58120800-58128800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:58120800-58129200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:58121000-58129200	Strong transcription	Primary B cells from cord blood	blood
22	chr12:58121200-58126800	Weak transcription	Brain Angular Gyrus	brain
23	chr12:58121200-58128000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:58121400-58125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:58121400-58132800	Strong transcription	Thymus	Thymus
26	chr12:58121600-58125400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:58121600-58126000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:58121600-58126400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:58121600-58130200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:58121800-58125000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:58121800-58125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:58121800-58129400	Strong transcription	Spleen	Spleen
33	chr12:58121800-58130200	Weak transcription	Gastric	stomach
34	chr12:58121800-58132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:58122000-58129400	Weak transcription	Lung	lung
36	chr12:58122800-58128400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:58123000-58129600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:58123000-58131400	Strong transcription	Fetal Thymus	thymus
39	chr12:58123200-58126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:58123200-58127200	Strong transcription	Fetal Brain Female	brain
41	chr12:58123400-58129000	Strong transcription	Dnd41	blood
42	chr12:58123600-58127800	Strong transcription	GM12878-XiMat	blood
43	chr12:58124000-58126400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:58124000-58129400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:58124200-58125000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:58124200-58126400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:58124200-58127200	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr12:58124600-58127000	Weak transcription	HSMMtube	muscle
49	chr12:58124800-58126200	Strong transcription	Fetal Muscle Leg	muscle

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