Variant report

Variant	rs6976725
Chromosome Location	chr7:137380919-137380920
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	chr7:137364114..137367092-chr7:137379026..137381477,2	K562	blood:
2	chr7:137369548..137371096-chr7:137379761..137381577,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1019583	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10234581	0.82[CHB][hapmap]
rs1025087	0.81[JPT][hapmap]
rs12056089	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12707367	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs13234743	0.81[JPT][hapmap]
rs1345918	0.81[JPT][hapmap]
rs1424370	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1424371	0.83[CHB][hapmap]
rs1723069	0.82[EUR][1000 genomes]
rs1834143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991084	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2113428	0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs270891	0.83[MEX][hapmap]
rs270893	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs270894	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs270895	0.87[CEU][hapmap];0.85[CHB][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs270896	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs270897	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs270898	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs270899	0.83[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs270900	0.83[CEU][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs270901	0.83[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs270902	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs270904	0.83[CEU][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs3778797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778798	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3778799	0.86[ASN][1000 genomes]
rs3800624	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800626	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800636	0.82[JPT][hapmap]
rs3800637	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3800644	0.81[JPT][hapmap]
rs3823552	0.82[ASN][1000 genomes]
rs4728420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732263	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4732264	0.85[CHB][hapmap]
rs6944527	0.81[JPT][hapmap]
rs6948537	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6957797	0.81[JPT][hapmap]
rs6971978	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7457119	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806658	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7806810	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs9784934	0.85[JPT][hapmap]

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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv464731	chr7:137356651-137404781	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv608466	chr7:137356651-137404781	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6976725	KIAA1549	cis	cerebellum	SCAN
rs6976725	ADCK2	cis	cerebellum	SCAN
rs6976725	SLC13A4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137370800-137384600	Weak transcription	Fetal Brain Female	brain
2	chr7:137374000-137387400	Weak transcription	Aorta	Aorta
3	chr7:137375800-137382400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:137379000-137381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:137379200-137382000	Enhancers	Osteobl	bone
6	chr7:137379200-137383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:137379600-137381600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:137379800-137381600	Enhancers	HepG2	liver
9	chr7:137380200-137381000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:137380200-137381200	Weak transcription	HSMM	muscle
11	chr7:137380200-137388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:137380400-137381000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:137380400-137381000	Enhancers	Brain Substantia Nigra	brain
14	chr7:137380400-137381200	Enhancers	Brain Hippocampus Middle	brain
15	chr7:137380400-137381800	Enhancers	NHDF-Ad	bronchial
16	chr7:137380400-137382000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:137380600-137381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:137380600-137381000	Enhancers	HSMMtube	muscle
19	chr7:137380600-137381200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:137380600-137381200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:137380600-137381400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:137380600-137381400	Enhancers	Brain Angular Gyrus	brain
23	chr7:137380600-137382000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:137380800-137381000	Enhancers	NH-A	brain

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