Variant report

Variant	rs2294691
Chromosome Location	chr6:24652843-24652844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24645419..24648668-chr6:24649660..24654397,7	K562	blood:
2	chr6:24645187..24649410-chr6:24651412..24654746,5	K562	blood:
3	chr6:24652620..24654640-chr6:24655230..24656838,2	K562	blood:
4	chr6:24652247..24658784-chr6:24665384..24668018,7	MCF-7	breast:
5	chr6:24650945..24654399-chr6:24657634..24660021,4	K562	blood:
6	chr6:24651935..24653772-chr6:44213689..44215301,2	MCF-7	breast:
7	chr6:24650977..24653487-chr6:24654406..24656645,3	MCF-7	breast:
8	chr6:24644203..24646922-chr6:24652041..24654652,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111802	Chromatin interaction
ENSG00000137261	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000112304	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16889592	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16901739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883591	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]
rs2056998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2294688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328847	0.85[ASN][1000 genomes]
rs2876679	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3181230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3181233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3181235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181236	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3212234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3212235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3756815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7765052	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358786	0.90[ASN][1000 genomes]
rs9358787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366579	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9379679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9379682	0.99[ASN][1000 genomes]
rs9393575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9461050	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9467251	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467253	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467257	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

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	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
3	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv883481	chr6:24652247-24659071	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
3	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
4	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
5	chr6:24646800-24653200	Weak transcription	Gastric	stomach
6	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
7	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
8	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
9	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:24647000-24653000	Weak transcription	HUVEC	blood vessel
11	chr6:24647000-24653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:24647000-24659000	Weak transcription	Stomach Mucosa	stomach
13	chr6:24647000-24662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:24647000-24662400	Weak transcription	Lung	lung
15	chr6:24647000-24662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
17	chr6:24647200-24663400	Weak transcription	Fetal Kidney	kidney
18	chr6:24649400-24654200	Strong transcription	Primary T cells from cord blood	blood
19	chr6:24649400-24654600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:24649400-24654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:24649400-24656600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:24649400-24659200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:24649400-24659600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:24649800-24654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:24649800-24655600	Strong transcription	Fetal Thymus	thymus
28	chr6:24649800-24656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:24650000-24653200	Strong transcription	Fetal Intestine Large	intestine
30	chr6:24650000-24654000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:24650000-24654200	Strong transcription	Brain Hippocampus Middle	brain
32	chr6:24650000-24657400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr6:24650000-24657400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr6:24650000-24658400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:24650000-24658400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:24650000-24658600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr6:24650000-24659000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:24650000-24663600	Strong transcription	Dnd41	blood
39	chr6:24650000-24665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:24650200-24653400	Strong transcription	HepG2	liver
41	chr6:24650200-24654400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:24650200-24654400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr6:24650200-24654600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:24650200-24656000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:24650200-24656200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:24650200-24656600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:24650200-24657600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:24650200-24657600	Strong transcription	Placenta	Placenta
49	chr6:24650200-24658800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:24650200-24659000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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