Variant report

Variant	rs12540669
Chromosome Location	chr7:71078962-71078963
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12540649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467332	1.00[JPT][hapmap]
rs1525720	0.89[CEU][hapmap]
rs7793718	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:71024800-71079400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:71075200-71080200	Enhancers	Ovary	ovary
3	chr7:71075400-71080800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:71076000-71079400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:71076200-71080800	Enhancers	Brain Cingulate Gyrus	brain
6	chr7:71076200-71081400	Enhancers	Fetal Muscle Leg	muscle
7	chr7:71076600-71079000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:71076600-71079000	Enhancers	HSMMtube	muscle
9	chr7:71076600-71080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:71076800-71080400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:71077000-71081000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:71077200-71081200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:71077200-71081400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:71077200-71081400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:71077400-71079600	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:71077400-71080800	Enhancers	Fetal Heart	heart
17	chr7:71077400-71081400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:71077800-71080400	Enhancers	HSMM	muscle
19	chr7:71077800-71081000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:71078000-71079400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:71078000-71080400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:71078000-71080800	Enhancers	Fetal Lung	lung
23	chr7:71078200-71079000	Enhancers	Colon Smooth Muscle	Colon
24	chr7:71078200-71080400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:71078400-71079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:71078400-71084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:71078400-71085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:71078600-71079000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:71078600-71079400	Weak transcription	Brain Anterior Caudate	brain
30	chr7:71078600-71079400	Weak transcription	Fetal Brain Female	brain
31	chr7:71078600-71079400	Weak transcription	Left Ventricle	heart
32	chr7:71078600-71080000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:71078600-71080000	Weak transcription	Aorta	Aorta
34	chr7:71078600-71080000	Weak transcription	Brain Substantia Nigra	brain
35	chr7:71078600-71080000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:71078600-71080000	Weak transcription	NHDF-Ad	bronchial
37	chr7:71078600-71080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:71078600-71080400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:71078600-71080600	Weak transcription	Psoas Muscle	Psoas
40	chr7:71078600-71081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:71078600-71081000	Enhancers	Fetal Brain Male	brain
42	chr7:71078600-71083200	Weak transcription	Brain Germinal Matrix	brain
43	chr7:71078800-71079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:71078800-71079400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:71078800-71079400	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:71078800-71079800	Weak transcription	Adipose Nuclei	Adipose
47	chr7:71078800-71080000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:71078800-71080000	Weak transcription	NH-A	brain
49	chr7:71078800-71080400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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