Variant report

Variant	rs7822467
Chromosome Location	chr8:126321986-126321987
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126318394..126322454-chr8:126322882..126325184,6	K562	blood:
2	chr8:126320818..126322361-chr8:126441952..126443721,2	K562	blood:
3	chr8:126318103..126323029-chr8:126440904..126443721,4	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs57876250	1.00[EUR][1000 genomes]
rs58217279	1.00[EUR][1000 genomes]
rs58318216	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58818314	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6983990	1.00[EUR][1000 genomes]
rs6990205	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704939	1.00[EUR][1000 genomes]
rs73704957	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824635	0.91[YRI][hapmap]
rs7834583	0.93[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
3	chr8:126315400-126325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:126316000-126325000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:126316200-126322200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:126318400-126322600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:126318600-126354600	Weak transcription	Ovary	ovary
8	chr8:126319000-126322200	Enhancers	Osteobl	bone
9	chr8:126319000-126322400	Enhancers	NHDF-Ad	bronchial
10	chr8:126319200-126322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:126319200-126322600	Enhancers	Placenta	Placenta
12	chr8:126319400-126322000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:126319400-126322000	Enhancers	Fetal Thymus	thymus
14	chr8:126319400-126323200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:126319400-126323800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:126319400-126325200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:126319600-126322000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:126319600-126323600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:126319800-126324000	Enhancers	NHLF	lung
20	chr8:126319800-126324600	Enhancers	K562	blood
21	chr8:126320000-126323400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:126320200-126322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126320200-126322000	Weak transcription	Primary T cells from cord blood	blood
25	chr8:126320200-126322400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:126320200-126323200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:126320400-126322200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:126320400-126323200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:126320400-126326600	Weak transcription	Left Ventricle	heart
31	chr8:126320600-126322400	Enhancers	Fetal Intestine Small	intestine
32	chr8:126320600-126322600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:126320800-126323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:126321000-126322000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:126321000-126322200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:126321000-126329200	Weak transcription	Gastric	stomach
37	chr8:126321200-126322000	Enhancers	Colonic Mucosa	Colon
38	chr8:126321200-126322000	Enhancers	Lung	lung
39	chr8:126321200-126324000	Enhancers	HSMM	muscle
40	chr8:126321200-126325400	Weak transcription	Fetal Brain Male	brain
41	chr8:126321400-126322400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:126321400-126323200	Enhancers	GM12878-XiMat	blood
43	chr8:126321600-126322000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:126321600-126322000	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:126321600-126322000	Enhancers	A549	lung
46	chr8:126321600-126322200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr8:126321600-126322200	Enhancers	Small Intestine	intestine
48	chr8:126321600-126322400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:126321600-126322600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:126321600-126322600	Enhancers	NHEK	skin

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