Variant report

Variant	rs10954751
Chromosome Location	chr7:83880644-83880645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1003787	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972960	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540147	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671964	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672520	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221565	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13245457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17244132	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989964	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs554026	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594533	0.88[ASW][hapmap];0.88[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs614105	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664988	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv5818	chr7:83874968-83919804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10954751	GNAI1	cis	cerebellum	SCAN
rs10954751	C7orf23	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83875800-83893800	Weak transcription	NHDF-Ad	bronchial
2	chr7:83876800-83881000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:83877400-83880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:83878400-83884600	Weak transcription	Fetal Lung	lung
5	chr7:83878600-83885400	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:83879200-83881800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:83879200-83882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:83879600-83881200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:83879600-83881200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:83879600-83881400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:83879600-83881600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:83879600-83881800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:83879800-83881000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:83879800-83881200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:83879800-83881600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:83879800-83881600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:83879800-83881600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:83880000-83880800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:83880200-83881800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr7:83880200-83882000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:83880200-83886000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:83880200-83892200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:83880400-83880800	Enhancers	Fetal Muscle Leg	muscle
24	chr7:83880400-83881000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:83880400-83881200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:83880400-83881200	Enhancers	HMEC	breast
27	chr7:83880400-83881600	Enhancers	Osteobl	bone
28	chr7:83880600-83880800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:83880600-83881000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:83880600-83881000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:83880600-83881200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:83880600-83881200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:83880600-83881200	Flanking Active TSS	NH-A	brain
34	chr7:83880600-83881400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:83880600-83881400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:83880600-83881400	Enhancers	NHLF	lung
37	chr7:83880600-83881600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:83880600-83881600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:83880600-83881600	Enhancers	Cortex derived primary cultured neurospheres	brain

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