Variant report

Variant	rs12194443
Chromosome Location	chr6:24808548-24808549
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	chr6:24798986..24801269-chr6:24807888..24810303,2	K562	blood:

Variant related genes	Relation type
ENSG00000260286	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2307300	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7754175	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv5227	chr6:24774149-24824012	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv508396	chr6:24779648-24846309	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24809400	Weak transcription	Brain Germinal Matrix	brain
2	chr6:24777000-24811600	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
5	chr6:24788000-24810200	Weak transcription	Left Ventricle	heart
6	chr6:24788000-24832000	Weak transcription	Brain Substantia Nigra	brain
7	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:24789200-24842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:24798200-24827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:24798200-24841200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:24800000-24843200	Weak transcription	Liver	Liver
12	chr6:24800200-24809400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:24800400-24821800	Weak transcription	Fetal Heart	heart
14	chr6:24800800-24811800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:24800800-24811800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:24801000-24812000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:24801200-24811800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:24801200-24812000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr6:24801400-24811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:24801600-24811200	Strong transcription	Primary T cells from cord blood	blood
21	chr6:24802000-24810600	Strong transcription	Primary B cells from cord blood	blood
22	chr6:24802000-24811000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr6:24802000-24811000	Strong transcription	Fetal Thymus	thymus
24	chr6:24802000-24811600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:24802000-24811800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:24802000-24811800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:24802000-24812000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:24802400-24811600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:24802400-24811600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:24802400-24811800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:24802400-24811800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:24802600-24810600	Strong transcription	Thymus	Thymus
33	chr6:24802600-24812000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:24802600-24834200	Weak transcription	HSMM	muscle
35	chr6:24802800-24827400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:24803200-24811000	Strong transcription	HSMMtube	muscle
37	chr6:24803400-24809000	Weak transcription	Pancreas	Pancrea
38	chr6:24803400-24810200	Weak transcription	Lung	lung
39	chr6:24803400-24817800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:24803400-24827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:24804000-24809400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:24804200-24810000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:24804600-24809200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:24804800-24810000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:24804800-24811200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:24804800-24858200	Weak transcription	Gastric	stomach
47	chr6:24805000-24808600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:24805000-24811400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:24805000-24811400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:24805000-24812000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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