Variant report

Variant	rs12253981
Chromosome Location	chr10:6092346-6092347
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6017579..6019952-chr10:6092243..6094639,2	MCF-7	breast:
2	chr10:6088691..6090332-chr10:6090960..6092832,2	K562	blood:

Variant related genes	Relation type
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11256497	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597367	0.83[ASN][1000 genomes]
rs12251836	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476491	0.89[ASN][1000 genomes]
rs4749924	0.90[ASN][1000 genomes]
rs6602398	0.90[ASN][1000 genomes]
rs7100984	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6085800-6092400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:6086000-6093000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr10:6087800-6092600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:6090600-6092400	Enhancers	Duodenum Mucosa	Duodenum
5	chr10:6090600-6092600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:6091200-6092400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:6091200-6092600	Enhancers	Fetal Thymus	thymus
8	chr10:6091200-6092800	Flanking Active TSS	GM12878-XiMat	blood
9	chr10:6091400-6092600	Bivalent Enhancer	HepG2	liver
10	chr10:6091400-6093000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:6091600-6092400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr10:6091600-6092400	Enhancers	Thymus	Thymus
13	chr10:6091800-6092400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr10:6091800-6092400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:6091800-6092400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:6091800-6092600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:6091800-6092600	Enhancers	Esophagus	oesophagus
18	chr10:6091800-6092800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr10:6091800-6093000	Enhancers	Spleen	Spleen
20	chr10:6092000-6092400	Enhancers	Dnd41	blood
21	chr10:6092000-6092600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:6092000-6092600	Enhancers	Left Ventricle	heart
23	chr10:6092000-6092600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:6092000-6092600	Enhancers	Right Ventricle	heart
25	chr10:6092000-6092800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr10:6092000-6093000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:6092000-6093200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:6092000-6093400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr10:6092000-6093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:6092000-6093400	Enhancers	Lung	lung
31	chr10:6092000-6094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:6092200-6092400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:6092200-6092600	Enhancers	Adipose Nuclei	Adipose
34	chr10:6092200-6092600	Enhancers	Brain Anterior Caudate	brain
35	chr10:6092200-6092600	Enhancers	Colonic Mucosa	Colon
36	chr10:6092200-6092600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr10:6092200-6092600	Enhancers	Fetal Muscle Trunk	muscle
38	chr10:6092200-6092600	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:6092200-6092800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr10:6092200-6093000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:6092200-6093000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr10:6092200-6093000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr10:6092200-6093200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr10:6092200-6093200	Active TSS	Rectal Smooth Muscle	rectum
45	chr10:6092200-6093400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr10:6092200-6093400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr10:6092200-6093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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