Variant report

Variant	rs56410344
Chromosome Location	chr7:27941860-27941861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10236987	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12531234	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12535525	0.84[AFR][1000 genomes]
rs13226126	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236531	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67583972	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7804500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7804617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7805497	1.00[AMR][1000 genomes];0.98[EUR][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	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	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
3	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
4	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:27935600-27943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:27937600-27945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:27937600-27945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:27937600-27945600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:27937600-27945600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:27937600-27953800	Weak transcription	Right Ventricle	heart
9	chr7:27937600-27956200	Weak transcription	Gastric	stomach
10	chr7:27937800-27945800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:27938200-27942400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:27938200-27943600	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:27939000-27945600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:27939000-27946400	Weak transcription	Brain Anterior Caudate	brain
15	chr7:27939200-27953000	Weak transcription	Left Ventricle	heart
16	chr7:27939800-27942000	Weak transcription	Spleen	Spleen
17	chr7:27939800-27950200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:27939800-27950400	Weak transcription	Pancreas	Pancrea
19	chr7:27940800-27942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:27941200-27942000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:27941200-27942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:27941200-27942200	Enhancers	Fetal Muscle Leg	muscle
23	chr7:27941200-27942400	Enhancers	Primary B cells from cord blood	blood
24	chr7:27941200-27954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
26	chr7:27941400-27942000	Enhancers	Adipose Nuclei	Adipose
27	chr7:27941400-27942000	Enhancers	Osteobl	bone
28	chr7:27941400-27942200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:27941400-27942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:27941400-27942200	Enhancers	Right Atrium	heart
31	chr7:27941400-27942200	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:27941400-27942600	Enhancers	GM12878-XiMat	blood
33	chr7:27941400-27945600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:27941400-27945600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:27941400-27945800	Weak transcription	HSMM	muscle
36	chr7:27941400-27946200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:27941400-27949800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
40	chr7:27941600-27942200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:27941600-27942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:27941600-27942200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:27941600-27942200	Enhancers	NHDF-Ad	bronchial
44	chr7:27941600-27943200	Weak transcription	Brain Substantia Nigra	brain
45	chr7:27941600-27944600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:27941600-27945800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:27941600-27947400	Weak transcription	Fetal Lung	lung
48	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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