Variant report

Variant	rs6978924
Chromosome Location	chr7:71148242-71148243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11972408	0.83[ASN][1000 genomes]
rs11975523	0.83[ASN][1000 genomes]
rs11982829	0.83[ASN][1000 genomes]
rs11983226	0.83[ASN][1000 genomes]
rs17143750	0.83[ASN][1000 genomes]
rs17143779	0.83[ASN][1000 genomes]
rs1917737	0.83[ASN][1000 genomes]
rs35487221	1.00[ASN][1000 genomes]
rs4719157	0.83[ASN][1000 genomes]
rs4719160	0.83[ASN][1000 genomes]
rs567591	0.83[ASN][1000 genomes]
rs648415	0.83[ASN][1000 genomes]
rs650831	0.83[ASN][1000 genomes]
rs6971170	1.00[ASN][1000 genomes]
rs7789424	0.83[ASN][1000 genomes]
rs7790588	0.83[ASN][1000 genomes]
rs7805142	0.83[ASN][1000 genomes]
rs995497	0.83[ASN][1000 genomes]

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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71140800-71162000	Weak transcription	Aorta	Aorta
2	chr7:71142400-71149200	Weak transcription	Spleen	Spleen
3	chr7:71144600-71149000	Weak transcription	Brain Anterior Caudate	brain
4	chr7:71144600-71149000	Weak transcription	Ovary	ovary
5	chr7:71144800-71151800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:71146400-71149600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:71146600-71148400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:71146600-71148600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:71146800-71152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:71147200-71148600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:71147200-71148600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:71147400-71148400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:71147400-71148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:71147400-71149200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:71147600-71148600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:71147600-71149400	Enhancers	Fetal Lung	lung
17	chr7:71147600-71149400	Enhancers	Fetal Muscle Leg	muscle
18	chr7:71147800-71148400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:71147800-71148600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:71147800-71148600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:71147800-71148600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:71147800-71148600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:71147800-71148600	Enhancers	Fetal Heart	heart
24	chr7:71147800-71148600	Enhancers	Fetal Stomach	stomach
25	chr7:71147800-71149200	Enhancers	Brain Germinal Matrix	brain
26	chr7:71147800-71149200	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:71147800-71149400	Enhancers	Fetal Brain Male	brain
28	chr7:71148000-71148400	Flanking Active TSS	HSMMtube	muscle
29	chr7:71148000-71148800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:71148000-71149400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:71148200-71148400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:71148200-71148400	Flanking Active TSS	Fetal Kidney	kidney
33	chr7:71148200-71148600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:71148200-71148600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:71148200-71148600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr7:71148200-71148600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:71148200-71148600	Active TSS	Brain Substantia Nigra	brain
38	chr7:71148200-71148600	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr7:71148200-71148600	Flanking Active TSS	Fetal Brain Female	brain
40	chr7:71148200-71148600	Enhancers	HSMM	muscle
41	chr7:71148200-71148800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:71148200-71148800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:71148200-71148800	Enhancers	Brain Angular Gyrus	brain

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