Variant report

Variant	rs399849
Chromosome Location	chr7:107816584-107816585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs107588	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs107589	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11767318	0.87[GIH][hapmap]
rs11983886	0.84[EUR][1000 genomes]
rs12111776	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12111953	1.00[CHB][hapmap]
rs12670313	0.84[TSI][hapmap]
rs1269630	1.00[CHB][hapmap]
rs1269631	1.00[CHB][hapmap]
rs1269632	1.00[CHB][hapmap]
rs1269633	1.00[CHB][hapmap]
rs1269637	1.00[CHB][hapmap]
rs1269638	1.00[CHB][hapmap]
rs1269644	1.00[CHB][hapmap]
rs1269654	1.00[CHB][hapmap]
rs1269657	1.00[CHB][hapmap]
rs17134753	1.00[CHB][hapmap]
rs17155059	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17155074	1.00[CHB][hapmap]
rs17155081	1.00[CHB][hapmap]
rs17155094	1.00[CHB][hapmap]
rs17155125	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2079710	0.84[EUR][1000 genomes]
rs2142325	1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2284280	0.81[TSI][hapmap]
rs2839850	0.87[GIH][hapmap]
rs371613	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs3819740	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs382751	1.00[CHB][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs393266	0.84[EUR][1000 genomes]
rs394921	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs399543	0.89[EUR][1000 genomes]
rs401433	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs401573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs409724	0.84[TSI][hapmap]
rs409797	0.84[TSI][hapmap]
rs409969	0.84[TSI][hapmap]
rs417455	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs420889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs422327	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs427909	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs439652	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs441534	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs449919	1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730292	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs4730294	0.84[EUR][1000 genomes]
rs4730295	0.84[EUR][1000 genomes]
rs6466219	1.00[CHB][hapmap]
rs6962066	0.94[CEU][hapmap];0.83[TSI][hapmap]
rs6970656	1.00[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs6974903	1.00[CHB][hapmap]
rs7456860	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1030222	chr7:107809927-107844916	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs399849	LAMB4	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:107786800-107819000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:107787000-107818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:107787600-107818800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
7	chr7:107790400-107816800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
9	chr7:107805800-107818800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:107808200-107820000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:107808600-107818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:107808600-107818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:107811200-107820000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:107811800-107821400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:107812600-107818200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:107813200-107819000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:107813600-107820000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:107813800-107820000	Weak transcription	Fetal Brain Female	brain
19	chr7:107814200-107828400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:107814800-107830400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:107815000-107818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:107815200-107817000	Strong transcription	A549	lung
23	chr7:107815600-107829600	Weak transcription	Brain Substantia Nigra	brain

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