Variant report

Variant	rs73299043
Chromosome Location	chr7:12251595-12251596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12251263..12253237-chr7:12442665..12444579,2	K562	blood:
2	chr7:12251087..12251775-chr7:12361635..12362202,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146530	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1047601	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228820	1.00[ASN][1000 genomes]
rs13340498	0.93[EUR][1000 genomes]
rs17582868	1.00[ASN][1000 genomes]
rs17648926	1.00[ASN][1000 genomes]
rs17670901	1.00[ASN][1000 genomes]
rs17671056	1.00[ASN][1000 genomes]
rs34184688	1.00[ASN][1000 genomes]
rs3887296	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4330594	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721078	1.00[ASN][1000 genomes]
rs4721079	1.00[ASN][1000 genomes]
rs4721080	1.00[ASN][1000 genomes]
rs4721082	1.00[ASN][1000 genomes]
rs4721088	1.00[ASN][1000 genomes]
rs57126633	1.00[ASN][1000 genomes]
rs59410610	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448708	1.00[ASN][1000 genomes]
rs62448726	1.00[ASN][1000 genomes]
rs62448727	1.00[ASN][1000 genomes]
rs62448730	1.00[ASN][1000 genomes]
rs62448731	1.00[ASN][1000 genomes]
rs62448733	1.00[ASN][1000 genomes]
rs62451461	1.00[ASN][1000 genomes]
rs62451464	1.00[ASN][1000 genomes]
rs62451465	1.00[ASN][1000 genomes]
rs62451486	1.00[ASN][1000 genomes]
rs62451487	1.00[ASN][1000 genomes]
rs6942432	1.00[ASN][1000 genomes]
rs6942551	1.00[ASN][1000 genomes]
rs6945587	1.00[ASN][1000 genomes]
rs6956500	0.84[EUR][1000 genomes]
rs6973288	1.00[ASN][1000 genomes]
rs6973395	1.00[ASN][1000 genomes]
rs6978367	0.85[EUR][1000 genomes]
rs6978768	0.85[EUR][1000 genomes]
rs6978857	0.86[EUR][1000 genomes]
rs6978877	0.86[EUR][1000 genomes]
rs6979046	0.87[EUR][1000 genomes]
rs6979124	0.86[EUR][1000 genomes]
rs73053536	1.00[ASN][1000 genomes]
rs73055515	1.00[ASN][1000 genomes]
rs73055517	1.00[ASN][1000 genomes]
rs73290446	1.00[ASN][1000 genomes]
rs73301032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677559	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677570	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677573	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677575	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677576	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780083	0.90[EUR][1000 genomes]
rs7780093	0.90[EUR][1000 genomes]
rs7780477	0.90[EUR][1000 genomes]
rs7781919	0.93[EUR][1000 genomes]
rs7799372	0.90[EUR][1000 genomes]
rs7804805	1.00[ASN][1000 genomes]
rs7808819	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811882	1.00[ASN][1000 genomes]
rs7812040	1.00[ASN][1000 genomes]
rs967126	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12249800-12251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:12249800-12251600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:12249800-12251600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:12249800-12251600	Active TSS	Brain Angular Gyrus	brain
5	chr7:12249800-12251600	Active TSS	Brain Substantia Nigra	brain
6	chr7:12249800-12251600	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:12249800-12251600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:12249800-12251600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:12249800-12251600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr7:12249800-12251600	Active TSS	Stomach Smooth Muscle	stomach
11	chr7:12249800-12251600	Active TSS	NH-A	brain
12	chr7:12249800-12251800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:12249800-12251800	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:12249800-12251800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:12249800-12252000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:12249800-12252200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:12249800-12252200	Active TSS	Right Atrium	heart
18	chr7:12249800-12253000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:12250000-12251600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:12250000-12251600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:12250000-12251600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:12250000-12251600	Active TSS	Liver	Liver
23	chr7:12250000-12251600	Active TSS	Colon Smooth Muscle	Colon
24	chr7:12250000-12251600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr7:12250000-12251600	Active TSS	Fetal Intestine Small	intestine
26	chr7:12250000-12251600	Active TSS	Fetal Lung	lung
27	chr7:12250000-12251600	Active TSS	Placenta	Placenta
28	chr7:12250000-12251600	Active TSS	Fetal Stomach	stomach
29	chr7:12250000-12251600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr7:12250000-12251600	Active TSS	Psoas Muscle	Psoas
31	chr7:12250000-12251600	Active TSS	Stomach Mucosa	stomach
32	chr7:12250000-12251600	Active TSS	Thymus	Thymus
33	chr7:12250000-12251600	Active TSS	Hela-S3	cervix
34	chr7:12250000-12251600	Active TSS	HSMMtube	muscle
35	chr7:12250000-12251600	Active TSS	NHEK	skin
36	chr7:12250000-12251800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:12250000-12251800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:12250000-12251800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:12250000-12251800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:12250000-12251800	Active TSS	Aorta	Aorta
41	chr7:12250000-12251800	Active TSS	Brain Hippocampus Middle	brain
42	chr7:12250000-12251800	Active TSS	Fetal Intestine Large	intestine
43	chr7:12250000-12251800	Active TSS	Left Ventricle	heart
44	chr7:12250000-12251800	Active TSS	Ovary	ovary
45	chr7:12250000-12251800	Active TSS	Right Ventricle	heart
46	chr7:12250000-12251800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr7:12250000-12251800	Active TSS	NHDF-Ad	bronchial
48	chr7:12250000-12251800	Active TSS	NHLF	lung
49	chr7:12250000-12252000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:12250000-12252000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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