Variant report

Variant	rs12530931
Chromosome Location	chr7:101628561-101628562
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101627966..101630739-chr7:101669621..101671157,2	MCF-7	breast:
2	chr7:101459267..101461144-chr7:101627647..101629488,2	MCF-7	breast:
3	chr7:101628172..101630666-chr7:101646616..101649464,3	MCF-7	breast:
4	chr7:101616193..101620421-chr7:101625647..101631766,10	MCF-7	breast:
5	chr7:101627337..101631221-chr7:101631346..101635612,7	MCF-7	breast:
6	chr7:101628339..101629982-chr7:101630689..101633025,2	MCF-7	breast:
7	chr7:101586542..101589464-chr7:101627667..101631970,4	MCF-7	breast:
8	chr7:101622396..101625620-chr7:101628035..101630999,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10259603	0.92[ASN][1000 genomes]
rs10488042	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10488043	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10953355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975995	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537526	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408612	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408640	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17487076	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17487672	0.92[ASN][1000 genomes]
rs1882763	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534780	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36118129	0.92[ASN][1000 genomes]
rs67101142	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973312	0.92[ASN][1000 genomes]
rs6973714	0.92[ASN][1000 genomes]
rs73185836	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780375	0.92[ASN][1000 genomes]
rs7780631	0.92[ASN][1000 genomes]
rs7805379	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
3	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:101614200-101628600	Weak transcription	Colonic Mucosa	Colon
7	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
8	chr7:101616400-101633000	Weak transcription	Gastric	stomach
9	chr7:101616600-101628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:101616600-101630200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:101616800-101628600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:101617000-101634000	Weak transcription	Liver	Liver
13	chr7:101619600-101630800	Weak transcription	HepG2	liver
14	chr7:101620200-101642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:101621800-101628600	Weak transcription	Fetal Brain Male	brain
16	chr7:101622000-101628600	Weak transcription	Right Ventricle	heart
17	chr7:101622200-101635600	Weak transcription	Pancreas	Pancrea
18	chr7:101622400-101628600	Weak transcription	Lung	lung
19	chr7:101623000-101631800	Weak transcription	Fetal Intestine Large	intestine
20	chr7:101623600-101630200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:101624200-101628600	Weak transcription	Fetal Stomach	stomach
22	chr7:101624600-101630000	Enhancers	Stomach Mucosa	stomach
23	chr7:101625000-101630200	Weak transcription	Spleen	Spleen
24	chr7:101625600-101630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:101625600-101635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:101625600-101635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:101625800-101629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:101625800-101634200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:101626600-101628800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:101626800-101631200	Weak transcription	Primary B cells from cord blood	blood
31	chr7:101626800-101631600	Weak transcription	Hela-S3	cervix
32	chr7:101627000-101628600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:101627000-101628600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:101627000-101628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:101627000-101628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:101627000-101629800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:101627000-101629800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:101627000-101630200	Enhancers	Fetal Thymus	thymus
39	chr7:101627000-101632800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:101627000-101633400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:101627000-101633800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:101627000-101647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:101627000-101671200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:101627200-101628600	Weak transcription	A549	lung
45	chr7:101627200-101630600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:101627400-101630200	Enhancers	Thymus	Thymus
47	chr7:101627600-101628600	Enhancers	GM12878-XiMat	blood
48	chr7:101627600-101629000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:101627600-101630600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:101627800-101628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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