Variant report

Variant	rs7014863
Chromosome Location	chr8:8945958-8945959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
2	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
3	chr8:8944921..8946631-chr8:9007353..9010228,2	K562	blood:

Variant related genes	Relation type
ENSG00000253426	Chromatin interaction
ENSG00000173281	Chromatin interaction

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

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

rs_ID	r²[population]
rs10081465	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11995840	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59972961	1.00[ASN][1000 genomes]
rs6601284	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601285	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992369	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001055	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005811	1.00[ASN][1000 genomes]
rs7006077	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73520711	1.00[ASN][1000 genomes]
rs73520712	1.00[ASN][1000 genomes]
rs7823386	1.00[ASN][1000 genomes]
rs7841165	1.00[ASN][1000 genomes]
rs7841337	1.00[ASN][1000 genomes]
rs7841581	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8940400-8946000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
7	chr8:8942600-8946200	Weak transcription	A549	lung
8	chr8:8942800-8946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:8945000-8946600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:8945000-8947000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:8945000-8947000	Enhancers	HUVEC	blood vessel
12	chr8:8945200-8946000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:8945200-8946000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:8945200-8946000	Enhancers	Adipose Nuclei	Adipose
15	chr8:8945200-8946200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:8945200-8946200	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:8945200-8946200	Flanking Active TSS	NH-A	brain
18	chr8:8945200-8946600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:8945200-8946600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:8945200-8946600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:8945200-8946600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:8945200-8946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:8945200-8946600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:8945200-8946600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:8945200-8946600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:8945200-8946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:8945200-8946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:8945200-8946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:8945200-8946800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:8945200-8947000	Enhancers	HMEC	breast
31	chr8:8945200-8947000	Enhancers	Osteobl	bone
32	chr8:8945200-8947200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:8945200-8947400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:8945200-8947400	Enhancers	Placenta	Placenta
35	chr8:8945400-8946000	Enhancers	Primary T cells from cord blood	blood
36	chr8:8945400-8946200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:8945400-8946200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:8945400-8946200	Enhancers	HSMM	muscle
39	chr8:8945400-8946400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:8945400-8946400	Weak transcription	Spleen	Spleen
41	chr8:8945400-8946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:8945400-8946600	Enhancers	Fetal Thymus	thymus
43	chr8:8945400-8946600	Enhancers	NHDF-Ad	bronchial
44	chr8:8945400-8946800	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:8945400-8946800	Flanking Active TSS	GM12878-XiMat	blood
46	chr8:8945600-8946400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr8:8945600-8946400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:8945600-8946400	Enhancers	Thymus	Thymus
49	chr8:8945600-8946600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:8945600-8946600	Active TSS	Rectal Mucosa Donor 29	rectum

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