Variant report

Variant	rs414077
Chromosome Location	chr7:107820911-107820912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:107820719-107823634	SK-N-SH	brain:	n/a	chr7:107821278-107821290
2	CTCF	chr7:107820798-107822386	A549	lung:	n/a	chr7:107821676-107821694 chr7:107821678-107821699

No.	Distal block	Cell Line	Cell type
1	chr7:107820337..107823179-chr7:108090688..108093464,2	MCF-7	breast:
2	chr7:107817137..107818651-chr7:107819182..107821095,2	K562	blood:
3	chr7:107818696..107821681-chr7:107992805..107995213,2	MCF-7	breast:
4	chr7:107819867..107822378-chr7:107829973..107832574,2	K562	blood:
5	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:
6	chr7:107820237..107821906-chr7:107824308..107826830,2	K562	blood:
7	chr7:107819408..107821670-chr7:108103371..108105401,2	K562	blood:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs377348	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs377926	0.90[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs388557	0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[AMR][1000 genomes]
rs394921	0.84[GIH][hapmap]
rs413840	0.84[EUR][1000 genomes]
rs420889	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs435533	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs449077	0.90[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs449506	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

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
rs414077	LAMB4	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
4	chr7:107811800-107821400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:107814200-107828400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:107814800-107830400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107815600-107829600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:107816800-107821600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:107817400-107821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:107817400-107828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
12	chr7:107818400-107821600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:107818600-107821000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:107818800-107821400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:107818800-107826400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:107819000-107821400	Strong transcription	A549	lung
18	chr7:107819200-107822200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:107819400-107822200	Weak transcription	Pancreas	Pancrea
20	chr7:107819800-107821000	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:107819800-107828400	Weak transcription	Brain Anterior Caudate	brain
22	chr7:107820000-107821000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:107820000-107821400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:107820000-107830000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:107820200-107821000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:107820800-107822000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:107820800-107824800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:107820800-107824800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:107820800-107827600	Weak transcription	Fetal Brain Female	brain
31	chr7:107820800-107830600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:107820800-107834600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:107820800-107840800	Weak transcription	Placenta	Placenta
34	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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