Variant report

Variant	rs73685831
Chromosome Location	chr7:27916394-27916395
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	chr7:27572850..27575032-chr7:27915614..27917476,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs57516014	1.00[AMR][1000 genomes]
rs57781449	1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	1.00[AMR][1000 genomes]
rs60912742	1.00[AMR][1000 genomes]
rs61474284	1.00[AMR][1000 genomes]
rs6961788	1.00[AMR][1000 genomes]
rs6975894	1.00[AMR][1000 genomes]
rs73683932	1.00[AMR][1000 genomes]
rs73683933	1.00[AMR][1000 genomes]
rs73683935	1.00[AMR][1000 genomes]
rs73683936	1.00[AMR][1000 genomes]
rs73683937	1.00[AMR][1000 genomes]
rs73683938	1.00[AMR][1000 genomes]
rs73683940	1.00[AMR][1000 genomes]
rs73683941	1.00[AMR][1000 genomes]
rs73683943	1.00[AMR][1000 genomes]
rs73683949	1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs73684033	1.00[AMR][1000 genomes]
rs73684044	1.00[AMR][1000 genomes]
rs73684087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685829	0.85[AFR][1000 genomes]
rs7793094	1.00[AMR][1000 genomes]
rs7794172	1.00[AMR][1000 genomes]
rs7795659	1.00[AMR][1000 genomes]
rs7809470	1.00[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27904000-27916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:27906600-27925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27907000-27930800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:27907600-27926000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:27908200-27932600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:27908600-27917400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:27909400-27916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:27909400-27923600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:27909400-27923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:27911000-27923600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:27912800-27916600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:27912800-27916800	Enhancers	Pancreas	Pancrea
16	chr7:27914000-27933000	Weak transcription	Aorta	Aorta
17	chr7:27914400-27922600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:27914400-27937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:27914600-27921400	Weak transcription	Fetal Brain Male	brain
20	chr7:27914600-27922000	Weak transcription	Right Atrium	heart
21	chr7:27914600-27923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:27914600-27923600	Weak transcription	Fetal Stomach	stomach
23	chr7:27914600-27933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:27914800-27919200	Strong transcription	Primary B cells from cord blood	blood
25	chr7:27914800-27923200	Weak transcription	Fetal Heart	heart
26	chr7:27914800-27923400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:27914800-27923400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:27915000-27925000	Weak transcription	Liver	Liver
29	chr7:27915200-27923600	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:27915400-27939400	Weak transcription	NHDF-Ad	bronchial
31	chr7:27915800-27923400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:27915800-27937200	Weak transcription	Gastric	stomach
33	chr7:27915800-27937200	Weak transcription	Right Ventricle	heart

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