Variant report

Variant	rs691325
Chromosome Location	chr7:129090528-129090529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129089875..129092199-chr7:129096683..129099212,2	K562	blood:
2	chr7:129078918..129082456-chr7:129089689..129095627,7	K562	blood:
3	chr7:129089597..129092267-chr7:129093049..129096077,3	K562	blood:
4	chr7:129088957..129092842-chr7:129097712..129099718,4	K562	blood:
5	chr7:129090117..129092267-chr7:129094044..129096077,2	K562	blood:
6	chr7:129078918..129084090-chr7:129089689..129096186,10	K562	blood:
7	chr7:129074655..129077287-chr7:129089903..129091785,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11768964	0.85[CHB][hapmap]
rs11771549	1.00[CHB][hapmap]
rs2598183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581829	0.85[CHB][hapmap]
rs587499	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs639605	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs655239	0.85[CHB][hapmap]
rs657664	0.85[CHB][hapmap]
rs676947	0.85[CHB][hapmap]
rs690872	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs691183	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691303	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692132	0.85[CHB][hapmap]
rs692509	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs691325	FAM40B	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129075200-129108400	Weak transcription	Gastric	stomach
4	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129075400-129105800	Weak transcription	Ovary	ovary
7	chr7:129075800-129091800	Weak transcription	HepG2	liver
8	chr7:129076000-129095000	Weak transcription	Dnd41	blood
9	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:129079200-129095200	Weak transcription	NHLF	lung
12	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
14	chr7:129080000-129091800	Weak transcription	Osteobl	bone
15	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
16	chr7:129080000-129104800	Weak transcription	A549	lung
17	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
18	chr7:129080400-129094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:129080600-129101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:129082000-129091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
22	chr7:129083400-129092400	Weak transcription	HMEC	breast
23	chr7:129083800-129091400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:129083800-129112800	Strong transcription	K562	blood
25	chr7:129084400-129092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:129084400-129092200	Weak transcription	Left Ventricle	heart
27	chr7:129084400-129093000	Weak transcription	Right Ventricle	heart
28	chr7:129085800-129103600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:129086400-129091600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:129086400-129094800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:129087200-129090600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:129087600-129090600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:129087600-129093800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:129087600-129103600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:129088000-129096200	Weak transcription	Psoas Muscle	Psoas
36	chr7:129088400-129093400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:129088400-129098000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:129088800-129091800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:129088800-129099800	Weak transcription	HSMMtube	muscle
40	chr7:129089000-129091400	Weak transcription	Brain Anterior Caudate	brain
41	chr7:129089000-129092000	Weak transcription	NHEK	skin
42	chr7:129089200-129091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:129089200-129093200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:129089200-129106600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:129089400-129091400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:129089400-129091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:129089400-129091400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:129089400-129092200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:129089400-129092400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:129089400-129092600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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