Variant report

Variant	rs1018954
Chromosome Location	chr7:21549891-21549892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1011167	0.83[ASW][hapmap];1.00[CHD][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2107449	0.85[JPT][hapmap]
rs2282901	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.93[LWK][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs6966442	0.85[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.80[AFR][1000 genomes];0.88[AMR][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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1018954	CCDC126	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:21533400-21550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:21536600-21550000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:21536600-21550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
11	chr7:21536800-21550800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:21536800-21550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:21539800-21551600	Strong transcription	Primary B cells from cord blood	blood
19	chr7:21540600-21550800	Weak transcription	Fetal Lung	lung
20	chr7:21540600-21551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:21540800-21551400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:21541000-21554800	Weak transcription	Lung	lung
24	chr7:21542000-21551200	Weak transcription	Fetal Kidney	kidney
25	chr7:21542200-21552200	Weak transcription	Adipose Nuclei	Adipose
26	chr7:21544200-21550200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:21545000-21550400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:21545400-21550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:21545400-21552600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:21545800-21550400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:21546000-21552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:21546200-21550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:21546200-21552000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:21546800-21550800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:21546800-21553800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:21547000-21551600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:21547400-21550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:21547800-21552000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:21547800-21554000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:21548000-21550800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:21548000-21550800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:21548000-21552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:21548200-21550400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:21548400-21550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:21548400-21552200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:21548400-21552400	Weak transcription	Fetal Stomach	stomach
47	chr7:21548400-21552600	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:21548400-21553200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:21548400-21556600	Weak transcription	Thymus	Thymus
50	chr7:21548600-21552600	Weak transcription	Ovary	ovary

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