Variant report

Variant	rs73704922
Chromosome Location	chr8:126318778-126318779
allele	C/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	chr8:126316293..126317813-chr8:126318662..126321423,2	K562	blood:
3	chr8:126318103..126323029-chr8:126440904..126443721,4	K562	blood:
4	chr8:126318641..126321559-chr8:126341791..126343679,2	MCF-7	breast:
5	chr8:126310853..126313276-chr8:126316044..126318835,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10087220	1.00[EUR][1000 genomes]
rs10088674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090983	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093674	1.00[EUR][1000 genomes]
rs10094940	1.00[AMR][1000 genomes]
rs10096127	1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[EUR][1000 genomes]
rs10100523	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101223	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104088	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105662	1.00[AMR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111261	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10111919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10481079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481153	1.00[EUR][1000 genomes]
rs10481154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985468	1.00[EUR][1000 genomes]
rs11988647	1.00[EUR][1000 genomes]
rs11990560	1.00[EUR][1000 genomes]
rs11994181	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998130	1.00[EUR][1000 genomes]
rs11998251	1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	1.00[EUR][1000 genomes]
rs28412398	1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[EUR][1000 genomes]
rs28502126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516407	1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28620783	1.00[AMR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[EUR][1000 genomes]
rs28786389	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56704677	1.00[AMR][1000 genomes]
rs58585963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	1.00[EUR][1000 genomes]
rs73704568	1.00[EUR][1000 genomes]
rs73704912	1.00[EUR][1000 genomes]
rs73704916	1.00[EUR][1000 genomes]
rs73704932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704933	0.86[AFR][1000 genomes]
rs73704935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704952	1.00[AMR][1000 genomes]
rs7826327	1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
8	chr8:126309200-126319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:126310000-126319200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:126311200-126319000	Weak transcription	NHLF	lung
11	chr8:126312400-126319200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:126312800-126320800	Weak transcription	Spleen	Spleen
13	chr8:126313000-126318800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:126313000-126319600	Weak transcription	Thymus	Thymus
15	chr8:126313200-126318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:126313200-126320600	Weak transcription	Hela-S3	cervix
17	chr8:126313600-126319000	Weak transcription	Osteobl	bone
18	chr8:126313600-126319400	Weak transcription	NH-A	brain
19	chr8:126313600-126320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:126313600-126321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:126314400-126321600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:126315200-126319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:126315200-126319600	Weak transcription	Left Ventricle	heart
24	chr8:126315200-126319800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:126315200-126320600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:126315400-126320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:126315400-126320600	Weak transcription	Fetal Intestine Small	intestine
28	chr8:126315400-126321000	Enhancers	GM12878-XiMat	blood
29	chr8:126315400-126321200	Weak transcription	Colonic Mucosa	Colon
30	chr8:126315400-126321200	Weak transcription	Lung	lung
31	chr8:126315400-126325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:126315600-126318800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:126315600-126318800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:126315600-126319000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:126315600-126319000	Weak transcription	A549	lung
36	chr8:126315600-126319200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:126315600-126319200	Weak transcription	Adipose Nuclei	Adipose
38	chr8:126315600-126319200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:126315600-126319200	Weak transcription	Placenta	Placenta
40	chr8:126315600-126319400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:126315600-126319800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:126315600-126320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:126315800-126319000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:126315800-126319200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:126315800-126319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:126316000-126325000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:126316200-126319200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:126316200-126322200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:126317400-126319600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:126318200-126319000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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