Variant report

Variant	rs1883591
Chromosome Location	chr6:24691652-24691653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24689774..24692539-chr6:24696590..24698822,3	K562	blood:
2	chr6:24521761..24524041-chr6:24690563..24692507,2	MCF-7	breast:
3	chr6:24581924..24583883-chr6:24690538..24692523,2	MCF-7	breast:
4	chr6:24686699..24688678-chr6:24690894..24693852,2	K562	blood:
5	chr6:24665731..24669179-chr6:24689665..24692363,3	MCF-7	breast:
6	chr6:24689874..24693452-chr6:24693526..24695958,4	K562	blood:

Variant related genes	Relation type
ENSG00000112294	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000112304	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16889592	0.90[ASN][1000 genomes]
rs16901739	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17249687	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1885211	0.96[YRI][hapmap]
rs2056998	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2073013	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2294688	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294689	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294690	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294691	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2328847	0.87[ASN][1000 genomes]
rs2876679	0.94[ASN][1000 genomes]
rs3181230	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3181233	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3181235	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3181236	0.90[ASN][1000 genomes]
rs3181237	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3212228	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3212229	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212234	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212235	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756815	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60707509	0.82[ASN][1000 genomes]
rs7765052	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358786	0.81[ASN][1000 genomes]
rs9358787	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366579	0.96[ASN][1000 genomes]
rs9379679	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs9379682	0.90[ASN][1000 genomes]
rs9393575	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461050	0.95[ASN][1000 genomes]
rs9467251	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9467253	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9467257	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24668200-24699800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:24668800-24691800	Weak transcription	Psoas Muscle	Psoas
3	chr6:24669000-24693000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:24669000-24701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:24669400-24701600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:24674200-24700000	Weak transcription	Fetal Lung	lung
7	chr6:24674600-24703400	Weak transcription	Aorta	Aorta
8	chr6:24674800-24698200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:24674800-24702200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:24674800-24702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:24674800-24702600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:24676600-24702600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:24678200-24699600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:24678200-24702600	Weak transcription	HSMMtube	muscle
15	chr6:24678800-24701200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:24678800-24701600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:24679400-24700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:24679600-24699800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:24679800-24691800	Weak transcription	Right Ventricle	heart
20	chr6:24680000-24705400	Weak transcription	Colonic Mucosa	Colon
21	chr6:24680600-24702600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:24680800-24701600	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:24681200-24705600	Weak transcription	Ovary	ovary
24	chr6:24681400-24701800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:24682400-24703000	Weak transcription	Lung	lung
26	chr6:24682800-24699000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:24682800-24701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:24682800-24702200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:24682800-24702200	Weak transcription	Fetal Stomach	stomach
30	chr6:24683000-24701400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:24683000-24702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:24684200-24701800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:24684400-24692200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:24684400-24697800	Weak transcription	Fetal Heart	heart
35	chr6:24684400-24699800	Weak transcription	HepG2	liver
36	chr6:24684600-24692800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:24684600-24701200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:24684800-24698800	Weak transcription	K562	blood
39	chr6:24684800-24705400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:24684800-24705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:24684800-24709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:24685000-24693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:24685000-24698200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:24685400-24698600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:24685800-24703600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:24686200-24703000	Weak transcription	HSMM	muscle
47	chr6:24686200-24703400	Weak transcription	Fetal Kidney	kidney
48	chr6:24687400-24694400	Weak transcription	GM12878-XiMat	blood
49	chr6:24687600-24699800	Weak transcription	Brain Anterior Caudate	brain
50	chr6:24687600-24699800	Weak transcription	Brain Inferior Temporal Lobe	brain

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