Variant report

Variant	rs73299040
Chromosome Location	chr7:12251185-12251186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222886239..222887225-chr7:12250816..12251369,2	Hela-S3	cervix:
2	chr14:39572252..39573123-chr7:12250595..12251375,2	Hela-S3	cervix:
3	chr7:12250736..12251292-chr9:74383519..74384056,2	Hela-S3	cervix:
4	chr17:15554505..15555485-chr7:12250755..12251548,2	Hela-S3	cervix:
5	chr14:39639664..39640469-chr7:12250678..12251257,2	Hela-S3	cervix:
6	chr7:12251087..12251775-chr7:12361635..12362202,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100934	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000135048	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000251537	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000266261	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1468800	0.87[EUR][1000 genomes]
rs17165736	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17165737	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17165744	0.89[AFR][1000 genomes]
rs17165746	0.93[AFR][1000 genomes]
rs17165750	0.87[AFR][1000 genomes]
rs3807864	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6978684	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73284389	0.89[AFR][1000 genomes]
rs73299019	0.95[AFR][1000 genomes]
rs73299021	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73299037	0.88[AFR][1000 genomes]
rs73301035	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73301046	0.80[AFR][1000 genomes]
rs73678692	0.97[AFR][1000 genomes];0.87[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	chr7:12249800-12251200	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr7:12249800-12251400	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr7:12249800-12251400	Active TSS	Fetal Brain Female	brain
4	chr7:12249800-12251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:12249800-12251600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:12249800-12251600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:12249800-12251600	Active TSS	Brain Angular Gyrus	brain
8	chr7:12249800-12251600	Active TSS	Brain Substantia Nigra	brain
9	chr7:12249800-12251600	Active TSS	Duodenum Mucosa	Duodenum
10	chr7:12249800-12251600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:12249800-12251600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:12249800-12251600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:12249800-12251600	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:12249800-12251600	Active TSS	NH-A	brain
15	chr7:12249800-12251800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:12249800-12251800	Active TSS	Brain Cingulate Gyrus	brain
17	chr7:12249800-12251800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:12249800-12252000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:12249800-12252200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:12249800-12252200	Active TSS	Right Atrium	heart
21	chr7:12249800-12253000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:12250000-12251200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:12250000-12251200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:12250000-12251400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:12250000-12251400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:12250000-12251600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:12250000-12251600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:12250000-12251600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:12250000-12251600	Active TSS	Liver	Liver
30	chr7:12250000-12251600	Active TSS	Colon Smooth Muscle	Colon
31	chr7:12250000-12251600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr7:12250000-12251600	Active TSS	Fetal Intestine Small	intestine
33	chr7:12250000-12251600	Active TSS	Fetal Lung	lung
34	chr7:12250000-12251600	Active TSS	Placenta	Placenta
35	chr7:12250000-12251600	Active TSS	Fetal Stomach	stomach
36	chr7:12250000-12251600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:12250000-12251600	Active TSS	Psoas Muscle	Psoas
38	chr7:12250000-12251600	Active TSS	Stomach Mucosa	stomach
39	chr7:12250000-12251600	Active TSS	Thymus	Thymus
40	chr7:12250000-12251600	Active TSS	Hela-S3	cervix
41	chr7:12250000-12251600	Active TSS	HSMMtube	muscle
42	chr7:12250000-12251600	Active TSS	NHEK	skin
43	chr7:12250000-12251800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:12250000-12251800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr7:12250000-12251800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:12250000-12251800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:12250000-12251800	Active TSS	Aorta	Aorta
48	chr7:12250000-12251800	Active TSS	Brain Hippocampus Middle	brain
49	chr7:12250000-12251800	Active TSS	Fetal Intestine Large	intestine
50	chr7:12250000-12251800	Active TSS	Left Ventricle	heart

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