Variant report

Variant	rs7357192
Chromosome Location	chr7:106943856-106943857
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	chr7:106937807..106940017-chr7:106943156..106944916,2	MCF-7	breast:
2	chr7:106942508..106944552-chr7:106946505..106949146,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1015410	0.92[CEU][hapmap]
rs1024401	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10244871	0.82[CEU][hapmap]
rs10249326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10260250	0.89[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs10264687	0.80[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1034734	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532293	0.86[EUR][1000 genomes]
rs2107762	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2107763	0.89[EUR][1000 genomes]
rs2158347	0.96[CEU][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap]
rs2189500	0.89[EUR][1000 genomes]
rs2214679	0.91[EUR][1000 genomes]
rs2237663	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237667	0.96[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2250410	0.85[CEU][hapmap]
rs2269970	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2395836	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap]
rs2395839	0.92[CEU][hapmap]
rs2520279	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs257376	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs257384	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap]
rs2712192	0.92[CEU][hapmap]
rs2712194	0.92[CEU][hapmap]
rs28718577	0.87[EUR][1000 genomes]
rs4727674	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4727675	0.85[EUR][1000 genomes]
rs4727682	0.84[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs4730221	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs4730230	0.83[EUR][1000 genomes]
rs4730244	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs57784799	0.84[EUR][1000 genomes]
rs57815418	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466163	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466164	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6466165	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954422	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes]
rs6966616	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6968804	0.82[CEU][hapmap]
rs6969719	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs6971864	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap]
rs7780542	0.83[ASN][1000 genomes]
rs7787113	0.92[CEU][hapmap]
rs7789927	0.91[EUR][1000 genomes]
rs7791955	0.89[CEU][hapmap]
rs7794142	0.87[EUR][1000 genomes]
rs7794437	0.87[EUR][1000 genomes]
rs7794896	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7802375	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7804398	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2756226	chr7:106850755-106944563	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1033064	chr7:106903099-106949640	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1797664	chr7:106930295-106964433	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7357192	COG5	cis	cerebellum	SCAN
rs7357192	PSMC2	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
2	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
3	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:106888800-106946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:106890800-106945600	Weak transcription	Aorta	Aorta
9	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:106911800-106946000	Weak transcription	Fetal Intestine Small	intestine
14	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
15	chr7:106918600-106963800	Weak transcription	HSMM	muscle
16	chr7:106921400-106946000	Weak transcription	Fetal Thymus	thymus
17	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:106925600-106959800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:106928000-106958800	Weak transcription	HepG2	liver
21	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:106931200-106945000	Weak transcription	Primary B cells from cord blood	blood
23	chr7:106931400-106962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:106931600-106945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:106932200-106945600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:106932200-106946400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:106932200-106967400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:106932400-106955600	Weak transcription	Stomach Mucosa	stomach
29	chr7:106932400-106956200	Weak transcription	HMEC	breast
30	chr7:106932600-106946000	Weak transcription	NHEK	skin
31	chr7:106932600-106953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:106933000-106946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:106934200-106945600	Weak transcription	Fetal Intestine Large	intestine
34	chr7:106934200-106945800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:106934200-106945800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:106934200-106946000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:106934200-106946000	Weak transcription	Liver	Liver
38	chr7:106934200-106947400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:106934200-106967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:106934200-106968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:106934200-106971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:106934200-106973000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:106934400-106945600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:106934400-106946000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:106934400-106967200	Weak transcription	Fetal Stomach	stomach
46	chr7:106934400-106971400	Weak transcription	Ovary	ovary
47	chr7:106934800-106962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:106935000-106945000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:106935200-106944800	Weak transcription	NHDF-Ad	bronchial
50	chr7:106935200-106946000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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