Variant report

Variant	rs7926637
Chromosome Location	chr11:63860826-63860827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63826195..63827757-chr11:63859090..63861275,2	K562	blood:
2	chr11:63580127..63582470-chr11:63859910..63862876,2	K562	blood:
3	chr11:63859816..63862484-chr11:63904603..63906988,2	K562	blood:
4	chr11:63859958..63862104-chr11:63864993..63867532,2	K562	blood:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1123251	0.84[ASW][hapmap]
rs2186643	0.84[ASW][hapmap]
rs56286917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884706	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884707	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944693	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
4	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
8	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv897654	chr11:63772000-63875456	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
15	nsv897657	chr11:63810944-63866959	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv897658	chr11:63810944-63897759	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv897659	chr11:63813470-63907079	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
19	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
20	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7926637	SYT12	cis	parietal	SCAN
rs7926637	FKBP2	cis	cerebellum	SCAN
rs7926637	RNASEH2C	cis	parietal	SCAN
rs7926637	ARL2	cis	parietal	SCAN
rs7926637	MRPL49	cis	cerebellum	SCAN
rs7926637	TRMT112	cis	parietal	SCAN
rs7926637	TCN1	cis	parietal	SCAN
rs7926637	SLC29A2	cis	cerebellum	SCAN
rs7926637	NAA40	cis	cerebellum	SCAN
rs7926637	FAU	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63848200-63865600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:63851800-63868400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr11:63852200-63863400	Weak transcription	Right Atrium	heart
4	chr11:63853000-63869000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:63853000-63871200	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:63853000-63871600	Enhancers	Brain Substantia Nigra	brain
7	chr11:63853400-63871200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:63853600-63864400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:63853600-63870800	Enhancers	Brain Angular Gyrus	brain
10	chr11:63854600-63861000	Weak transcription	Ovary	ovary
11	chr11:63854600-63864400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:63854600-63868400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:63854800-63862400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:63855400-63864800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:63856400-63871400	Enhancers	Brain Anterior Caudate	brain
16	chr11:63856600-63861200	Weak transcription	Gastric	stomach
17	chr11:63856800-63863000	Weak transcription	Spleen	Spleen
18	chr11:63856800-63864000	Enhancers	Adipose Nuclei	Adipose
19	chr11:63857200-63861400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:63857400-63862000	Enhancers	Stomach Smooth Muscle	stomach
21	chr11:63857400-63862800	Weak transcription	Colonic Mucosa	Colon
22	chr11:63857400-63864000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:63857400-63864800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:63857400-63866800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:63857600-63861200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:63857600-63861400	Enhancers	Liver	Liver
27	chr11:63857600-63862200	Weak transcription	HSMMtube	muscle
28	chr11:63857800-63861200	Weak transcription	HSMM	muscle
29	chr11:63857800-63862600	Weak transcription	Fetal Kidney	kidney
30	chr11:63857800-63863400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:63858000-63861000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:63858000-63864000	Enhancers	Placenta	Placenta
33	chr11:63858200-63862200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:63858200-63862200	Weak transcription	Lung	lung
35	chr11:63858200-63863000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:63858800-63861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:63858800-63861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:63858800-63862000	Weak transcription	Fetal Thymus	thymus
39	chr11:63858800-63862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:63858800-63862200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:63859000-63861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:63859000-63863000	Weak transcription	Fetal Heart	heart
43	chr11:63859200-63862000	Enhancers	A549	lung
44	chr11:63859200-63862000	Weak transcription	HMEC	breast
45	chr11:63859200-63866200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:63859400-63861200	Weak transcription	Osteobl	bone
47	chr11:63859400-63861400	Weak transcription	Fetal Lung	lung
48	chr11:63859400-63862200	Enhancers	HepG2	liver
49	chr11:63859400-63864600	Enhancers	Brain Germinal Matrix	brain
50	chr11:63859600-63861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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