Variant report

Variant	rs73677558
Chromosome Location	chr7:12270791-12270792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10488193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699320	0.87[ASN][1000 genomes]
rs1468800	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16877361	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17165736	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165737	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165744	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165746	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165750	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17595150	0.84[ASN][1000 genomes]
rs17595402	0.87[ASN][1000 genomes]
rs17605315	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17665337	0.87[ASN][1000 genomes]
rs60495893	0.83[ASN][1000 genomes]
rs60699002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61225336	0.92[EUR][1000 genomes]
rs6460904	0.93[EUR][1000 genomes]
rs6978684	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73284389	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299019	0.95[ASN][1000 genomes]
rs73301035	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73677511	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73677523	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73678692	0.80[EUR][1000 genomes];0.95[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	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	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
4	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
6	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
7	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
8	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:12252400-12271200	Weak transcription	K562	blood
11	chr7:12252400-12271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:12252400-12272600	Weak transcription	Gastric	stomach
13	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
14	chr7:12252400-12278600	Weak transcription	NHEK	skin
15	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
16	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
17	chr7:12252600-12271000	Weak transcription	Fetal Heart	heart
18	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:12252800-12272600	Weak transcription	Hela-S3	cervix
21	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
22	chr7:12253200-12272400	Weak transcription	HepG2	liver
23	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
24	chr7:12255200-12279000	Strong transcription	Liver	Liver
25	chr7:12256400-12271000	Weak transcription	Fetal Stomach	stomach
26	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
27	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
29	chr7:12258800-12272800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:12259000-12277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:12259000-12278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:12259200-12277200	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:12260200-12275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:12260400-12271400	Weak transcription	HSMM	muscle
36	chr7:12260400-12279400	Weak transcription	NHDF-Ad	bronchial
37	chr7:12261400-12271000	Weak transcription	Aorta	Aorta
38	chr7:12261400-12272200	Weak transcription	Brain Germinal Matrix	brain
39	chr7:12261400-12277800	Weak transcription	Fetal Kidney	kidney
40	chr7:12261600-12278000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:12262600-12274000	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:12263200-12279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:12263400-12274600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:12263600-12272400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:12264200-12277800	Weak transcription	NH-A	brain
46	chr7:12264200-12279800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:12264200-12280000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:12264200-12280000	Weak transcription	Ovary	ovary
49	chr7:12264400-12271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:12264400-12279400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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