Variant report

Variant	rs55810607
Chromosome Location	chr7:80380333-80380334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11765496	0.81[EUR][1000 genomes]
rs1334522	0.81[EUR][1000 genomes]
rs1527464	0.85[EUR][1000 genomes]
rs1527465	0.85[EUR][1000 genomes]
rs1534313	0.94[EUR][1000 genomes]
rs16886849	0.85[EUR][1000 genomes]
rs17154337	0.85[EUR][1000 genomes]
rs17154380	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1830224	0.80[EUR][1000 genomes]
rs1880957	0.81[EUR][1000 genomes]
rs1880958	0.85[EUR][1000 genomes]
rs3778673	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778674	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817557	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3823476	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73370841	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73370844	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386847	0.85[EUR][1000 genomes]
rs954409	0.81[EUR][1000 genomes]
rs954410	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80363600-80385200	Weak transcription	Fetal Stomach	stomach
2	chr7:80368400-80394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:80369200-80402200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:80370600-80400400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:80370800-80392200	Weak transcription	Fetal Lung	lung
6	chr7:80370800-80396000	Weak transcription	Aorta	Aorta
7	chr7:80371000-80410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:80371200-80385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:80371400-80381000	Strong transcription	HMEC	breast
10	chr7:80372000-80392600	Weak transcription	Ovary	ovary
11	chr7:80372400-80381400	Strong transcription	HSMM	muscle
12	chr7:80372400-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:80372800-80396200	Weak transcription	Lung	lung
14	chr7:80373000-80382600	Strong transcription	Osteobl	bone
15	chr7:80373000-80383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:80373000-80386000	Weak transcription	Right Ventricle	heart
17	chr7:80373400-80380800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr7:80373400-80381000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:80373800-80396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:80374000-80381000	Strong transcription	NHLF	lung
21	chr7:80374200-80396000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:80374600-80386400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:80374600-80396000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:80374600-80401000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:80374600-80410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:80376000-80380800	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:80376200-80381400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:80377400-80381200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:80377600-80380800	Genic enhancers	A549	lung
30	chr7:80378200-80410600	Weak transcription	Fetal Brain Female	brain
31	chr7:80378400-80382600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:80378400-80385600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:80378400-80393400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:80378400-80395000	Weak transcription	Left Ventricle	heart
35	chr7:80378600-80389000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:80378600-80389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:80378600-80389600	Weak transcription	Fetal Kidney	kidney
38	chr7:80378800-80389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:80378800-80390200	Strong transcription	NHDF-Ad	bronchial
40	chr7:80378800-80392600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:80379000-80392000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:80379000-80412800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:80379200-80385600	Weak transcription	Psoas Muscle	Psoas
44	chr7:80379400-80381000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:80379400-80385800	Weak transcription	NH-A	brain
46	chr7:80379600-80385000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:80379600-80385800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:80379600-80386400	Weak transcription	Adipose Nuclei	Adipose
49	chr7:80379600-80393400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:80379600-80393400	Weak transcription	Rectal Smooth Muscle	rectum

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