Variant report

Variant	rs405945
Chromosome Location	chr7:107841732-107841733
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107840057..107842255-chr7:107937956..107941774,3	MCF-7	breast:
2	chr7:107841455..107844662-chr7:107849026..107852619,4	MCF-7	breast:
3	chr7:107840521..107844716-chr7:107989632..107993969,4	MCF-7	breast:
4	chr7:107834408..107836242-chr7:107841552..107843873,2	MCF-7	breast:
5	chr7:107840154..107842979-chr7:107937702..107939902,2	MCF-7	breast:
6	chr7:107838620..107843312-chr7:108093150..108098167,6	MCF-7	breast:
7	chr7:107840763..107848322-chr7:108091812..108097680,8	MCF-7	breast:
8	chr7:107840675..107842857-chr7:107846031..107847571,2	K562	blood:
9	chr7:107839156..107844072-chr7:107845606..107848458,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1155	0.85[CEU][hapmap]
rs11763780	1.00[YRI][hapmap]
rs11772445	1.00[YRI][hapmap]
rs12537654	1.00[YRI][hapmap]
rs1269621	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1269622	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269623	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1269625	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269628	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1269629	0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1269634	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1269639	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1269640	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1269641	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1269642	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs1269643	0.96[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1269645	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1269649	0.84[EUR][1000 genomes]
rs1269659	0.85[CEU][hapmap]
rs2284280	1.00[YRI][hapmap]
rs36065373	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs370133	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs394145	1.00[YRI][hapmap]
rs403622	0.89[ASN][1000 genomes]
rs409724	1.00[YRI][hapmap]
rs409797	1.00[YRI][hapmap]
rs422011	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445372	1.00[YRI][hapmap]
rs888189	0.89[ASN][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

No data

Chromatin state (count:35 , 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	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
4	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:107821600-107850400	Weak transcription	Fetal Brain Male	brain
11	chr7:107828000-107852000	Weak transcription	Pancreas	Pancrea
12	chr7:107828800-107846600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:107828800-107851400	Weak transcription	Fetal Intestine Small	intestine
14	chr7:107829600-107848600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
16	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:107834800-107841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:107835000-107851400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:107835400-107845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:107835600-107844200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:107836000-107844800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:107836600-107843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:107836800-107851200	Weak transcription	HMEC	breast
24	chr7:107836800-107852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:107838400-107841800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:107838600-107844400	Weak transcription	HUVEC	blood vessel
27	chr7:107839400-107843400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:107841000-107844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:107841200-107850000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:107841200-107851800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:107841400-107845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:107841600-107841800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:107841600-107841800	Enhancers	Placenta	Placenta
34	chr7:107841600-107842400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:107841600-107843000	Enhancers	A549	lung

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