Variant report

Variant	rs10277935
Chromosome Location	chr7:120654290-120654291
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	chr7:120651629..120654433-chr7:120773346..120775726,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10245811	0.90[CHB][hapmap]
rs10245939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10257314	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1080807	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10953923	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1118142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11976117	0.82[CHB][hapmap]
rs12706305	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706306	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17535702	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2058501	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074577	0.86[ASW][hapmap];0.83[LWK][hapmap]
rs2244863	0.86[ASW][hapmap];0.82[LWK][hapmap]
rs2244865	0.81[AFR][1000 genomes]
rs2721341	0.80[ASW][hapmap]
rs2721354	0.80[ASW][hapmap]
rs2721363	0.86[ASW][hapmap];0.82[LWK][hapmap]
rs41690	0.86[ASW][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs6944789	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6949989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956237	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6958635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960415	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7782014	0.82[CHB][hapmap]
rs7782552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802570	0.82[CHB][hapmap]
rs7802665	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10277935	FLJ21986	cis	multi-tissue	Pritchard
rs10277935	NDUFA5	cis	cerebellum	SCAN
rs10277935	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
3	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
4	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:120647600-120656200	Weak transcription	NHLF	lung
7	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:120648000-120655200	Weak transcription	Ovary	ovary
9	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
13	chr7:120651400-120655600	Weak transcription	NHDF-Ad	bronchial
14	chr7:120651800-120656400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:120652600-120660600	Genic enhancers	K562	blood
16	chr7:120652800-120663800	Weak transcription	Small Intestine	intestine
17	chr7:120653200-120655200	Weak transcription	Aorta	Aorta
18	chr7:120653200-120656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:120653200-120656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:120653200-120657600	Weak transcription	Fetal Lung	lung
21	chr7:120653400-120654600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:120653400-120654800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:120653400-120654800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:120653400-120655200	Weak transcription	HSMM	muscle
25	chr7:120653400-120656400	Weak transcription	Fetal Stomach	stomach
26	chr7:120653400-120656800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:120653400-120663600	Weak transcription	Psoas Muscle	Psoas
28	chr7:120653600-120655600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:120653800-120655000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:120653800-120655800	Weak transcription	Adipose Nuclei	Adipose
31	chr7:120653800-120655800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:120653800-120656400	Weak transcription	HSMMtube	muscle
33	chr7:120654200-120655800	Weak transcription	Liver	Liver

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