Variant report

Variant	rs41486545
Chromosome Location	chr7:80378602-80378603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12113860	0.87[GIH][hapmap]
rs1949971	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1949972	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2886792	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs3211892	1.00[MEX][hapmap]
rs59227679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:65 , 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	chr7:80371800-80379000	Weak transcription	Fetal Brain Male	brain
11	chr7:80372000-80392600	Weak transcription	Ovary	ovary
12	chr7:80372400-80381400	Strong transcription	HSMM	muscle
13	chr7:80372400-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:80372800-80396200	Weak transcription	Lung	lung
15	chr7:80373000-80382600	Strong transcription	Osteobl	bone
16	chr7:80373000-80383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:80373000-80386000	Weak transcription	Right Ventricle	heart
18	chr7:80373400-80380800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr7:80373400-80381000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80373800-80396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:80374000-80381000	Strong transcription	NHLF	lung
22	chr7:80374200-80396000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:80374600-80380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:80374600-80386400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:80374600-80396000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:80374600-80401000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:80374600-80410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:80376000-80380800	Strong transcription	Fetal Muscle Leg	muscle
29	chr7:80376200-80381400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:80376600-80379800	Strong transcription	NHEK	skin
31	chr7:80377200-80379600	Strong transcription	Adipose Nuclei	Adipose
32	chr7:80377200-80380200	Strong transcription	HSMMtube	muscle
33	chr7:80377400-80381200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:80377600-80378800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:80377600-80378800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:80377600-80378800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:80377600-80379600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:80377600-80380800	Genic enhancers	A549	lung
39	chr7:80377800-80378800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:80377800-80378800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:80377800-80379000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:80377800-80379600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:80377800-80379600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:80378000-80378800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:80378000-80378800	Genic enhancers	Fetal Intestine Large	intestine
46	chr7:80378000-80378800	Flanking Active TSS	NH-A	brain
47	chr7:80378000-80379200	Strong transcription	Psoas Muscle	Psoas
48	chr7:80378000-80379600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:80378000-80379600	Strong transcription	Rectal Smooth Muscle	rectum
50	chr7:80378200-80378800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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