Variant report

Variant	rs72603512
Chromosome Location	chr7:101548206-101548207
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101497702..101501860-chr7:101544397..101548440,5	K562	blood:
2	chr7:101524926..101527642-chr7:101546281..101548486,3	K562	blood:
3	chr7:101541469..101544345-chr7:101547071..101549118,2	MCF-7	breast:
4	chr7:101524859..101527642-chr7:101545155..101548859,4	K562	blood:
5	chr7:101546954..101549494-chr7:101560538..101563127,2	MCF-7	breast:
6	chr7:101546835..101549246-chr7:101558183..101559730,2	MCF-7	breast:
7	chr7:101544077..101549064-chr7:101550086..101553092,6	K562	blood:
8	chr7:101546518..101548364-chr7:101578144..101580587,2	K562	blood:
9	chr7:101545303..101548484-chr7:101553115..101557502,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10081174	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226289	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10227516	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240601	0.99[EUR][1000 genomes]
rs10241905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10242019	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10255356	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10256232	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10259103	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259964	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261524	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264844	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264866	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10271171	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10271610	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10271838	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10275899	0.84[AMR][1000 genomes]
rs10279763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534641	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539310	0.89[AMR][1000 genomes]
rs13227531	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13229243	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13236072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241079	0.84[AMR][1000 genomes]
rs13241252	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410921	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28409703	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34750675	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35065711	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729756	0.82[AMR][1000 genomes]
rs4729757	0.82[AMR][1000 genomes]
rs4729759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729760	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55824493	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60656667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72603509	0.89[AMR][1000 genomes]
rs72603510	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72603511	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9656073	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101528600-101555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:101529400-101554200	Weak transcription	Primary T cells from cord blood	blood
3	chr7:101530600-101559800	Weak transcription	GM12878-XiMat	blood
4	chr7:101531400-101554600	Weak transcription	Hela-S3	cervix
5	chr7:101533800-101559000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:101535400-101554400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:101535600-101554200	Weak transcription	HepG2	liver
8	chr7:101535600-101554600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:101535800-101555200	Weak transcription	Liver	Liver
10	chr7:101535800-101555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:101537000-101554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:101537000-101554600	Weak transcription	Fetal Intestine Large	intestine
13	chr7:101537600-101559000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:101539600-101548800	Weak transcription	Thymus	Thymus
15	chr7:101540000-101555600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:101540200-101559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:101540400-101555200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:101540400-101559200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:101540800-101548600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:101541400-101554400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:101541400-101555000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:101541400-101555000	Weak transcription	Fetal Thymus	thymus
23	chr7:101541800-101548400	Weak transcription	Primary B cells from cord blood	blood
24	chr7:101542400-101555600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:101542600-101558000	Weak transcription	Dnd41	blood
26	chr7:101543600-101554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:101543800-101548600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:101544000-101555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:101544000-101558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:101544000-101569800	Weak transcription	HMEC	breast
31	chr7:101544200-101554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:101544200-101559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:101544200-101559400	Weak transcription	NHEK	skin
34	chr7:101544200-101579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:101544400-101555000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:101544400-101555200	Weak transcription	A549	lung
37	chr7:101544400-101556600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:101544600-101556600	Weak transcription	Brain Germinal Matrix	brain
39	chr7:101545200-101548600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:101545200-101553800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:101545600-101548400	Weak transcription	Gastric	stomach
42	chr7:101545600-101548400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:101545600-101548600	Weak transcription	Left Ventricle	heart
44	chr7:101545600-101548600	Weak transcription	Right Ventricle	heart
45	chr7:101545600-101553000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:101545600-101554200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:101545600-101554400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:101545600-101554400	Weak transcription	Esophagus	oesophagus
49	chr7:101545600-101555600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:101545800-101548400	Weak transcription	Fetal Stomach	stomach

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