Variant report

Variant	rs73522976
Chromosome Location	chr8:6554012-6554013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6551896..6556965-chr8:6563084..6567295,6	K562	blood:

Variant related genes	Relation type
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10104281	1.00[AMR][1000 genomes]
rs13439792	1.00[AMR][1000 genomes]
rs28395301	1.00[AMR][1000 genomes]
rs28436694	1.00[AMR][1000 genomes]
rs28485257	1.00[AMR][1000 genomes]
rs28519374	1.00[AMR][1000 genomes]
rs28557038	1.00[AMR][1000 genomes]
rs28558073	1.00[AMR][1000 genomes]
rs28714299	1.00[AMR][1000 genomes]
rs60438188	1.00[AMR][1000 genomes]
rs6987288	1.00[AMR][1000 genomes]
rs73520843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73522977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835043	1.00[AMR][1000 genomes]
rs7835624	1.00[AMR][1000 genomes]
rs9314605	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1024024	chr8:6490665-6555558	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv890059	chr8:6498174-6554615	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6540200-6558000	Weak transcription	HUVEC	blood vessel
2	chr8:6543200-6565200	Weak transcription	Left Ventricle	heart
3	chr8:6543400-6564000	Weak transcription	Spleen	Spleen
4	chr8:6543600-6564200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:6543800-6557800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:6546400-6557000	Weak transcription	Ovary	ovary
7	chr8:6548400-6555200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:6548400-6563400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:6548400-6563600	Weak transcription	Thymus	Thymus
10	chr8:6548600-6561800	Weak transcription	Fetal Thymus	thymus
11	chr8:6548600-6563800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:6548600-6564400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:6548800-6564200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:6549000-6561000	Weak transcription	Dnd41	blood
15	chr8:6549200-6555200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:6549200-6561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:6549400-6561000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:6549400-6564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:6549400-6565000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:6549600-6555400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:6549600-6563600	Weak transcription	Primary T cells from cord blood	blood
22	chr8:6550200-6555200	Weak transcription	Primary B cells from cord blood	blood
23	chr8:6550200-6555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:6550200-6560000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:6550400-6561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:6550600-6556400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:6551200-6555800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:6551800-6561200	Weak transcription	A549	lung
29	chr8:6552000-6554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:6552000-6563600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:6552000-6565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:6552000-6565200	Weak transcription	Pancreas	Pancrea
33	chr8:6552200-6555400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:6552200-6556600	Weak transcription	Fetal Stomach	stomach
35	chr8:6552200-6563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:6552200-6564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:6552400-6563600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:6552600-6563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:6552800-6554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:6552800-6555200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:6553000-6563800	Weak transcription	Gastric	stomach
42	chr8:6553200-6556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:6553200-6556400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:6553400-6564200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:6553600-6561800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:6553800-6555400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:6554000-6554400	Weak transcription	GM12878-XiMat	blood

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