Variant report

Variant	rs7799882
Chromosome Location	chr7:127429287-127429288
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127426661..127429547-chr7:127431448..127433989,3	K562	blood:
2	chr7:127427705..127429969-chr7:127443941..127445452,2	K562	blood:
3	chr7:127425728..127430973-chr7:127434300..127441103,9	K562	blood:
4	chr7:127422115..127423719-chr7:127427243..127429540,2	MCF-7	breast:
5	chr7:127416976..127420911-chr7:127427598..127431217,3	K562	blood:
6	chr7:127423131..127425989-chr7:127426509..127430202,4	K562	blood:
7	chr7:127423131..127425908-chr7:127427714..127430922,3	K562	blood:

No data

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10251423	0.93[EUR][1000 genomes]
rs10251548	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029927	0.93[EUR][1000 genomes]
rs10954163	0.97[EUR][1000 genomes]
rs11521053	0.99[EUR][1000 genomes]
rs11971935	0.96[EUR][1000 genomes]
rs11972774	0.97[EUR][1000 genomes]
rs11976841	0.92[EUR][1000 genomes]
rs11976946	0.92[EUR][1000 genomes]
rs12531440	0.98[EUR][1000 genomes]
rs12533846	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12539728	0.96[EUR][1000 genomes]
rs12540865	0.99[EUR][1000 genomes]
rs13236900	0.97[EUR][1000 genomes]
rs13237048	0.97[EUR][1000 genomes]
rs141450	0.95[EUR][1000 genomes]
rs16885524	0.92[EUR][1000 genomes]
rs17151241	0.97[EUR][1000 genomes]
rs17151270	0.98[EUR][1000 genomes]
rs1860934	0.94[EUR][1000 genomes]
rs1881084	0.93[EUR][1000 genomes]
rs2014583	0.96[EUR][1000 genomes]
rs2016786	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043982	0.91[EUR][1000 genomes]
rs2119452	0.92[EUR][1000 genomes]
rs2119453	0.92[EUR][1000 genomes]
rs2141259	0.92[EUR][1000 genomes]
rs2402866	0.92[EUR][1000 genomes]
rs2402867	0.92[EUR][1000 genomes]
rs2402870	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325440	0.95[EUR][1000 genomes]
rs325442	0.94[EUR][1000 genomes]
rs325444	0.94[EUR][1000 genomes]
rs325445	0.95[EUR][1000 genomes]
rs325446	0.95[EUR][1000 genomes]
rs325447	0.94[EUR][1000 genomes]
rs325451	0.94[EUR][1000 genomes]
rs35121681	0.97[EUR][1000 genomes]
rs35176520	0.92[EUR][1000 genomes]
rs35940771	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971861	0.90[EUR][1000 genomes]
rs3779529	0.93[EUR][1000 genomes]
rs3779530	0.92[EUR][1000 genomes]
rs3808092	0.99[EUR][1000 genomes]
rs3808093	0.89[EUR][1000 genomes]
rs3808095	0.97[EUR][1000 genomes]
rs3808097	0.97[EUR][1000 genomes]
rs3808106	0.92[EUR][1000 genomes]
rs3808107	0.92[EUR][1000 genomes]
rs3808112	0.92[EUR][1000 genomes]
rs4731376	0.92[EUR][1000 genomes]
rs4731378	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694225	0.91[EUR][1000 genomes]
rs56306023	0.87[EUR][1000 genomes]
rs58583807	0.97[EUR][1000 genomes]
rs6467145	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961381	0.98[EUR][1000 genomes]
rs6963455	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6968199	0.99[EUR][1000 genomes]
rs6969880	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs712712	0.92[EUR][1000 genomes]
rs712716	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73234880	0.92[EUR][1000 genomes]
rs73234882	0.93[EUR][1000 genomes]
rs73234901	0.82[EUR][1000 genomes]
rs741599	0.93[EUR][1000 genomes]
rs7458839	0.90[AFR][1000 genomes]
rs759843	0.93[EUR][1000 genomes]
rs7785050	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797663	0.97[EUR][1000 genomes]
rs7809182	0.87[AFR][1000 genomes]
rs917832	0.94[EUR][1000 genomes]
rs918793	0.97[EUR][1000 genomes]
rs972088	0.92[EUR][1000 genomes]
rs972089	0.92[EUR][1000 genomes]
rs972090	0.92[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127407400-127447600	Weak transcription	Dnd41	blood
9	chr7:127409400-127430200	Weak transcription	Liver	Liver
10	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
11	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
12	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
15	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:127423000-127429600	Weak transcription	Pancreas	Pancrea
17	chr7:127423000-127432200	Weak transcription	Lung	lung
18	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
22	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
23	chr7:127423200-127429600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:127423400-127430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:127423400-127430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:127423400-127430200	Weak transcription	NHEK	skin
31	chr7:127423400-127432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:127423400-127432600	Weak transcription	Brain Substantia Nigra	brain
33	chr7:127423400-127433400	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127423600-127431400	Weak transcription	HMEC	breast
36	chr7:127423600-127433200	Weak transcription	GM12878-XiMat	blood
37	chr7:127423600-127437800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:127423800-127431400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:127424600-127431200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:127425000-127430000	Enhancers	Osteobl	bone
42	chr7:127425000-127430800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:127425400-127431200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:127425400-127432400	Weak transcription	Gastric	stomach
45	chr7:127425400-127433000	Weak transcription	Ovary	ovary
46	chr7:127425800-127436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:127426000-127430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:127426200-127439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:127426400-127429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:127426600-127430200	Weak transcription	HSMM	muscle

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