Variant report

Variant	rs11153771
Chromosome Location	chr6:119032179-119032180
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:119030169-119032267	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:118965606..118967791-chr6:119031303..119033424,2	K562	blood:
2	chr6:119029203..119032181-chr6:119214720..119218048,3	K562	blood:
3	chr6:118969568..118974185-chr6:119029207..119033276,8	K562	blood:
4	chr6:118972255..118975649-chr6:119030496..119033791,4	K562	blood:

Variant related genes	Relation type
CEP85L	TF binding region
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10872168	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11153772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153773	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961110	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214336	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11153771	C6orf204	cis	cerebellum	SCAN
rs11153771	FCN1	trans	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119028400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:119029600-119033000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:119030800-119032200	Enhancers	Gastric	stomach
4	chr6:119031000-119032200	Enhancers	Brain Angular Gyrus	brain
5	chr6:119031000-119032200	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:119031000-119032200	Enhancers	Brain Hippocampus Middle	brain
7	chr6:119031000-119032200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr6:119031200-119032200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:119031200-119032200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:119031200-119032200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:119031200-119032200	Flanking Active TSS	K562	blood
12	chr6:119031400-119032200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:119031400-119032200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:119031400-119032200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:119031400-119032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:119031400-119032600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:119031400-119032800	Enhancers	HMEC	breast
18	chr6:119031400-119033000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:119031400-119033200	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:119031400-119033400	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:119031400-119035400	Enhancers	Fetal Thymus	thymus
22	chr6:119031600-119032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:119031600-119032200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:119031600-119032200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:119031600-119032200	Enhancers	NHLF	lung
26	chr6:119031600-119032200	Enhancers	Osteobl	bone
27	chr6:119031600-119033000	Enhancers	Thymus	Thymus
28	chr6:119031600-119033200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:119031600-119033400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:119031600-119033800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:119031600-119034000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:119031600-119034600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:119031600-119034600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:119031600-119035000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:119031600-119036200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:119031600-119039200	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:119031600-119040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:119031600-119040400	Weak transcription	Psoas Muscle	Psoas
39	chr6:119031600-119044400	Weak transcription	Fetal Heart	heart
40	chr6:119031600-119045600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:119031800-119032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:119031800-119033200	Enhancers	GM12878-XiMat	blood
43	chr6:119031800-119033400	Enhancers	Primary B cells from cord blood	blood
44	chr6:119031800-119033800	Weak transcription	NHEK	skin
45	chr6:119031800-119034000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:119031800-119034000	Weak transcription	HSMMtube	muscle
47	chr6:119031800-119034200	Weak transcription	HSMM	muscle
48	chr6:119031800-119034600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr6:119031800-119036400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:119032000-119032200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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