Variant report

Variant	rs1009708
Chromosome Location	chr11:72345345-72345346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
2	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
3	chr11:71930243..71933219-chr11:72343934..72345638,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10898860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11603077	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11605720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2047506	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2365769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405851	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4943961	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944589	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4944591	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944599	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944608	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944635	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55816112	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55835028	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111188	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111915	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930245	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7934444	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1009708	NADSYN1	cis	cerebellum	SCAN
rs1009708	FAM168A	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
3	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
5	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
6	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:72337800-72348200	Weak transcription	Gastric	stomach
8	chr11:72338400-72348200	Weak transcription	Ovary	ovary
9	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:72339800-72345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
13	chr11:72341400-72346200	Enhancers	Right Ventricle	heart
14	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
15	chr11:72342600-72346000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
17	chr11:72343000-72345600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:72343400-72346400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:72343400-72348200	Weak transcription	Liver	Liver
20	chr11:72343400-72350200	Enhancers	Right Atrium	heart
21	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
22	chr11:72343600-72346200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:72343600-72347000	Enhancers	Placenta	Placenta
24	chr11:72343600-72347400	Enhancers	Brain Germinal Matrix	brain
25	chr11:72343600-72348600	Weak transcription	Pancreas	Pancrea
26	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:72343800-72348000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:72344200-72345400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:72344200-72347600	Weak transcription	Hela-S3	cervix
32	chr11:72344400-72345400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr11:72344400-72346600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:72344600-72345400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:72344600-72346000	Weak transcription	Psoas Muscle	Psoas
36	chr11:72344600-72346000	Weak transcription	HSMMtube	muscle
37	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr11:72345000-72345400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:72345000-72345800	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:72345000-72345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr11:72345000-72346000	Enhancers	Spleen	Spleen
43	chr11:72345000-72347000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:72345200-72345400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:72345200-72345600	Weak transcription	K562	blood
46	chr11:72345200-72345800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:72345200-72346000	Enhancers	H1 Cell Line	embryonic stem cell

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