Variant report

Variant	rs11983671
Chromosome Location	chr7:26255949-26255950
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	chr7:26255262..26257410-chr7:26263409..26265761,2	MCF-7	breast:
2	chr7:26251555..26253253-chr7:26253823..26256718,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225431	0.87[TSI][hapmap]
rs10233641	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10236009	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238831	0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs10247665	1.00[EUR][1000 genomes]
rs1025331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10255851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11486821	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11971002	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11974650	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12700716	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2269893	0.87[ASN][1000 genomes]
rs28520327	0.95[ASN][1000 genomes]
rs34876113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36032567	1.00[EUR][1000 genomes]
rs3757672	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6461919	0.93[GIH][hapmap]
rs6974645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71521751	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7803845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11983671	FGFBP2	trans	lymphoblastoid	seeQTL
rs11983671	GRASP	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26245800-26257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26245800-26263400	Weak transcription	Fetal Brain Male	brain
4	chr7:26250200-26256600	Weak transcription	Small Intestine	intestine
5	chr7:26250200-26263400	Weak transcription	Fetal Heart	heart
6	chr7:26250600-26256400	Weak transcription	Psoas Muscle	Psoas
7	chr7:26251400-26257200	Weak transcription	HepG2	liver
8	chr7:26251600-26256000	Weak transcription	NHEK	skin
9	chr7:26251800-26257600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:26252800-26256200	Weak transcription	HSMMtube	muscle
11	chr7:26252800-26257000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:26252800-26263800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:26253000-26256200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:26253200-26263800	Weak transcription	Brain Germinal Matrix	brain
15	chr7:26253600-26256800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:26253600-26256800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:26253600-26263600	Weak transcription	Fetal Brain Female	brain
18	chr7:26253800-26256000	Weak transcription	Primary B cells from cord blood	blood
19	chr7:26253800-26257000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:26255000-26256200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr7:26255200-26256400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:26255400-26256400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:26255800-26256200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:26255800-26256200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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