Variant report

Variant	rs4996259
Chromosome Location	chr7:78117710-78117711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10156060	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12670134	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548868	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978323	0.86[EUR][1000 genomes]
rs1990577	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2362611	0.87[EUR][1000 genomes]
rs3735442	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67578259	0.88[AFR][1000 genomes]
rs741254	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741255	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779312	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784056	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785241	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804932	0.90[YRI][hapmap]
rs7807727	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975421	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78108800-78118800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:78109000-78118200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:78109600-78118600	Weak transcription	Fetal Heart	heart
4	chr7:78113600-78118600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:78114800-78118400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78114800-78127800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:78115000-78119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:78115200-78118600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:78115400-78118600	Weak transcription	Fetal Brain Male	brain
10	chr7:78116200-78118800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:78116600-78125600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:78116800-78118000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:78116800-78119600	Active TSS	Brain Anterior Caudate	brain
14	chr7:78116800-78119600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:78117000-78118200	Enhancers	Brain Germinal Matrix	brain
16	chr7:78117000-78118200	Weak transcription	Ovary	ovary
17	chr7:78117000-78118600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:78117000-78118800	Weak transcription	Small Intestine	intestine
19	chr7:78117400-78118200	Enhancers	Brain Angular Gyrus	brain
20	chr7:78117400-78119400	Active TSS	Brain Substantia Nigra	brain
21	chr7:78117600-78117800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:78117600-78118000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:78117600-78118400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:78117600-78119200	Active TSS	Brain Hippocampus Middle	brain
25	chr7:78117600-78119400	Active TSS	Fetal Brain Female	brain

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