Variant report

Variant	rs975420
Chromosome Location	chr7:78116522-78116523
allele	C/T
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]
rs10246338	0.98[ASN][1000 genomes]
rs10271232	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1861224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978322	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1978325	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885559	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4996260	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs60666886	0.95[ASN][1000 genomes]
rs62467106	0.98[ASN][1000 genomes]
rs62467107	0.98[ASN][1000 genomes]
rs62467115	0.95[ASN][1000 genomes]
rs759333	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs759335	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7779732	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7789155	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
2	chr7:78104400-78116800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:78106600-78117000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:78108400-78116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:78108800-78117400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:78108800-78118800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:78109000-78118200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:78109600-78117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:78109600-78118600	Weak transcription	Fetal Heart	heart
10	chr7:78113600-78118600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:78114800-78116600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:78114800-78116800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:78114800-78118400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:78114800-78127800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:78115000-78119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:78115200-78118600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:78115400-78118600	Weak transcription	Fetal Brain Male	brain
18	chr7:78115800-78116600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:78115800-78116800	Enhancers	Brain Anterior Caudate	brain
20	chr7:78116000-78117000	Enhancers	Brain Substantia Nigra	brain
21	chr7:78116200-78117000	Enhancers	Fetal Intestine Small	intestine
22	chr7:78116200-78118800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:78116400-78117000	Enhancers	Brain Hippocampus Middle	brain
24	chr7:78116400-78117000	Enhancers	Small Intestine	intestine
25	chr7:78116400-78117200	Enhancers	Fetal Intestine Large	intestine
26	chr7:78116400-78117400	Enhancers	HepG2	liver

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