Variant report

Variant	rs73704556
Chromosome Location	chr8:126224160-126224161
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	chr8:126223323..126225539-chr8:126441248..126443087,2	MCF-7	breast:
2	chr8:126222391..126224423-chr8:126237932..126240192,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12056336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679295	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681565	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682185	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16900457	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4481615	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839055	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326134	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252921	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905807	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179901	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58383711	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58805022	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59056247	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60494467	0.83[EUR][1000 genomes]
rs6984988	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988747	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992545	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997418	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997658	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997862	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014707	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015295	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017497	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348122	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73348148	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348187	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349893	1.00[ASN][1000 genomes]
rs73351205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351208	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704543	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704549	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822618	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823372	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827336	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833107	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833463	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844453	0.83[EUR][1000 genomes];0.83[ASN][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	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:126194200-126226000	Weak transcription	Ovary	ovary
3	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:126201800-126226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:126201800-126230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
10	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
11	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:126204200-126226400	Weak transcription	Pancreas	Pancrea
15	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
16	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:126204400-126224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:126204400-126225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
21	chr8:126205200-126224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:126205200-126231200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:126205400-126230000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:126214400-126225400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:126214400-126226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:126214400-126226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
28	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:126214600-126228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:126214600-126230800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:126214600-126231200	Weak transcription	Fetal Lung	lung
32	chr8:126214600-126231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:126216800-126224200	Weak transcription	Stomach Mucosa	stomach
34	chr8:126217200-126226400	Weak transcription	Aorta	Aorta
35	chr8:126217200-126226400	Weak transcription	Gastric	stomach
36	chr8:126217400-126226000	Weak transcription	Hela-S3	cervix
37	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:126217800-126230400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:126218000-126226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:126218000-126226000	Weak transcription	Fetal Kidney	kidney
41	chr8:126218000-126231600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:126218800-126226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:126219200-126224600	Weak transcription	Small Intestine	intestine
44	chr8:126219200-126225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:126220200-126224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:126220200-126226000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:126220200-126231400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:126220400-126224600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:126220400-126224600	Weak transcription	Psoas Muscle	Psoas
50	chr8:126220400-126225000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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