Variant report

Variant	rs2912049
Chromosome Location	chr8:6558121-6558122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6541963..6544362-chr8:6557182..6559282,2	K562	blood:
2	chr8:6557619..6559613-chr8:6563755..6566992,3	K562	blood:
3	chr8:6558068..6559956-chr8:6562512..6564020,2	K562	blood:
4	chr8:6555465..6559889-chr8:6564305..6567198,4	K562	blood:
5	chr8:6520749..6523640-chr8:6556573..6558187,2	K562	blood:

Variant related genes	Relation type
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1121184	0.89[AFR][1000 genomes]
rs1559743	0.85[AFR][1000 genomes]
rs2911973	0.89[AFR][1000 genomes]
rs2911984	0.85[AFR][1000 genomes]
rs2911990	0.82[EUR][1000 genomes]
rs2912043	0.93[AFR][1000 genomes]
rs2912073	1.00[AMR][1000 genomes]
rs2928612	0.82[EUR][1000 genomes]
rs2928615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2936503	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6543200-6565200	Weak transcription	Left Ventricle	heart
2	chr8:6543400-6564000	Weak transcription	Spleen	Spleen
3	chr8:6543600-6564200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:6548400-6563400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:6548400-6563600	Weak transcription	Thymus	Thymus
6	chr8:6548600-6561800	Weak transcription	Fetal Thymus	thymus
7	chr8:6548600-6563800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:6548600-6564400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:6548800-6564200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:6549000-6561000	Weak transcription	Dnd41	blood
11	chr8:6549200-6561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:6549400-6561000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:6549400-6564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:6549400-6565000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:6549600-6563600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:6550200-6560000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:6550400-6561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:6551800-6561200	Weak transcription	A549	lung
19	chr8:6552000-6563600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:6552000-6565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:6552000-6565200	Weak transcription	Pancreas	Pancrea
22	chr8:6552200-6563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:6552200-6564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:6552400-6563600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:6552600-6563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:6553000-6563800	Weak transcription	Gastric	stomach
27	chr8:6553400-6564200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:6553600-6561800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:6554200-6563800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:6554200-6565200	Weak transcription	Aorta	Aorta
31	chr8:6554600-6565000	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:6554800-6564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:6555200-6563600	Weak transcription	Fetal Intestine Large	intestine
34	chr8:6555600-6564400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:6555600-6565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:6555800-6563600	Weak transcription	Fetal Intestine Small	intestine
37	chr8:6556000-6558200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:6556000-6558600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:6556200-6558400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:6556200-6559000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:6556200-6563200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:6556200-6563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:6556200-6564200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:6556400-6558600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:6556600-6558200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:6556600-6560600	Weak transcription	Primary B cells from cord blood	blood
47	chr8:6556800-6561200	Weak transcription	K562	blood
48	chr8:6556800-6561800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:6556800-6564000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:6556800-6564000	Weak transcription	Fetal Muscle Leg	muscle

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