Variant report

Variant	rs73691557
Chromosome Location	chr8:67626977-67626978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
2	chr8:67625790..67629580-chr8:67694202..67697997,3	MCF-7	breast:
3	chr8:67379259..67381817-chr8:67625879..67628203,2	MCF-7	breast:
4	chr8:67625194..67627994-chr8:67835989..67838898,3	MCF-7	breast:
5	chr8:67434410..67435385-chr8:67625937..67627020,20	MCF-7	breast:
6	chr8:67453447..67455816-chr8:67625265..67627410,2	MCF-7	breast:
7	chr8:67424639..67425515-chr8:67626021..67627124,4	MCF-7	breast:
8	chr8:67036323..67036925-chr8:67626370..67626996,2	MCF-7	breast:
9	chr8:67625428..67627452-chr8:67654330..67656798,2	MCF-7	breast:
10	chr8:67617194..67618857-chr8:67625197..67627686,2	MCF-7	breast:
11	chr8:67424767..67425416-chr8:67625919..67627124,5	MCF-7	breast:
12	chr8:67626463..67627090-chr8:68293042..68293906,2	MCF-7	breast:
13	chr8:67574105..67581178-chr8:67622567..67628099,10	MCF-7	breast:
14	chr8:67578457..67580462-chr8:67626751..67628464,2	MCF-7	breast:
15	chr8:67626021..67626987-chr8:67653593..67654717,8	MCF-7	breast:
16	chr8:67434405..67435275-chr8:67626102..67627054,4	MCF-7	breast:
17	chr8:67521707..67525650-chr8:67623825..67627698,8	MCF-7	breast:
18	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245910	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000175073	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11985572	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987280	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990461	0.82[EUR][1000 genomes]
rs11990636	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992069	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995256	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995814	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996861	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997967	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998301	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114734	0.87[EUR][1000 genomes]
rs16933034	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933039	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933057	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933060	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933079	0.82[EUR][1000 genomes]
rs16933080	0.82[EUR][1000 genomes]
rs28547325	0.84[ASN][1000 genomes]
rs35517376	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857962	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913346	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3929419	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073730	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613982	1.00[ASN][1000 genomes]
rs55893527	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056216	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215867	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345609	0.87[EUR][1000 genomes]
rs57894537	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58434561	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58653469	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991268	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59226286	0.87[EUR][1000 genomes]
rs59469156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60741740	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60773515	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61080934	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472289	0.82[EUR][1000 genomes]
rs6651278	0.82[EUR][1000 genomes]
rs6981761	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982137	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983632	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	0.82[EUR][1000 genomes]
rs6984650	1.00[ASN][1000 genomes]
rs6985273	0.82[EUR][1000 genomes]
rs6998252	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998777	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002183	0.82[ASN][1000 genomes]
rs7002479	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015619	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017471	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691562	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691565	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691571	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691572	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691578	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691579	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691582	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691586	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691595	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693631	0.82[EUR][1000 genomes]
rs73693632	0.82[EUR][1000 genomes]
rs7815142	0.82[EUR][1000 genomes]
rs7820403	0.82[EUR][1000 genomes]
rs9918869	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67625600-67627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67625600-67627400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:67625600-67627400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:67625600-67640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:67625600-67643600	Weak transcription	Gastric	stomach
6	chr8:67625800-67627000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:67625800-67627200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:67625800-67628800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:67625800-67650600	Weak transcription	Aorta	Aorta
10	chr8:67626000-67627000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:67626200-67627000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:67626200-67627000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr8:67626200-67627000	Enhancers	Fetal Brain Female	brain
14	chr8:67626200-67627200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:67626200-67627200	Enhancers	Psoas Muscle	Psoas
16	chr8:67626200-67628000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:67626200-67628400	Weak transcription	K562	blood
18	chr8:67626200-67651200	Weak transcription	Right Ventricle	heart
19	chr8:67626200-67657600	Weak transcription	Lung	lung
20	chr8:67626200-67664400	Weak transcription	Ovary	ovary
21	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
22	chr8:67626400-67627000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:67626400-67627000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:67626400-67627000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:67626400-67627000	Weak transcription	Pancreas	Pancrea
26	chr8:67626400-67627000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:67626400-67627000	Enhancers	GM12878-XiMat	blood
28	chr8:67626400-67627000	Enhancers	Osteobl	bone
29	chr8:67626400-67627200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:67626400-67627200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:67626400-67627200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:67626400-67627200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:67626400-67627200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:67626400-67627200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:67626400-67627200	Enhancers	HSMM	muscle
36	chr8:67626400-67627200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:67626400-67627400	Enhancers	Primary B cells from cord blood	blood
38	chr8:67626400-67627400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:67626400-67628000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:67626400-67628000	Weak transcription	Brain Germinal Matrix	brain
41	chr8:67626400-67628200	Weak transcription	Dnd41	blood
42	chr8:67626400-67628400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:67626400-67628400	Weak transcription	Thymus	Thymus
44	chr8:67626400-67628600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:67626400-67628600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:67626400-67628600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:67626400-67628600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:67626400-67628600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:67626400-67628800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr8:67626400-67628800	Enhancers	HMEC	breast

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