Variant report

Variant	rs2357662
Chromosome Location	chr8:66944706-66944707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66931541..66933360-chr8:66943140..66945695,2	MCF-7	breast:
2	chr8:66932752..66935770-chr8:66943969..66946424,3	MCF-7	breast:
3	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
4	chr8:66674197..66674850-chr8:66944310..66945295,2	K562	blood:
5	chr8:66824904..66825559-chr8:66944376..66945116,2	MCF-7	breast:
6	chr8:66746514..66747073-chr8:66944657..66945211,2	MCF-7	breast:
7	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
8	chr8:66914244..66914789-chr8:66944445..66945132,2	MCF-7	breast:
9	chr8:66857677..66860314-chr8:66944682..66947632,2	MCF-7	breast:
10	chr8:66939130..66942548-chr8:66942805..66946877,6	MCF-7	breast:
11	chr8:66938865..66941643-chr8:66944661..66947406,3	MCF-7	breast:
12	chr8:66673165..66677231-chr8:66944474..66948432,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11987232	1.00[ASN][1000 genomes]
rs11994535	0.83[ASN][1000 genomes]
rs11995869	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932394	1.00[JPT][hapmap]
rs16932396	1.00[JPT][hapmap]
rs16932422	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932423	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34178379	0.83[ASN][1000 genomes]
rs3922725	0.83[ASN][1000 genomes]
rs3922726	0.83[ASN][1000 genomes]
rs55636103	0.83[ASN][1000 genomes]
rs56200451	0.83[ASN][1000 genomes]
rs57033118	0.83[ASN][1000 genomes]
rs57896411	1.00[ASN][1000 genomes]
rs58122259	0.83[ASN][1000 genomes]
rs58165070	0.94[ASN][1000 genomes]
rs58407124	0.83[ASN][1000 genomes]
rs58556742	0.84[ASN][1000 genomes]
rs58681615	0.83[ASN][1000 genomes]
rs59321109	0.83[ASN][1000 genomes]
rs59436889	0.83[ASN][1000 genomes]
rs59514911	0.85[EUR][1000 genomes]
rs60109751	0.83[ASN][1000 genomes]
rs60866025	0.84[ASN][1000 genomes]
rs61492394	0.83[ASN][1000 genomes]
rs6980631	0.83[ASN][1000 genomes]
rs6999945	0.83[ASN][1000 genomes]
rs7001442	1.00[JPT][hapmap]
rs7005571	0.85[JPT][hapmap]
rs7006472	0.83[ASN][1000 genomes]
rs7010977	0.83[ASN][1000 genomes]
rs7011003	0.83[ASN][1000 genomes]
rs7014758	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs73247098	0.83[ASN][1000 genomes]
rs73248906	0.83[ASN][1000 genomes]
rs73248909	0.83[ASN][1000 genomes]
rs73248984	0.83[ASN][1000 genomes]
rs73252340	1.00[ASN][1000 genomes]
rs7463507	0.83[ASN][1000 genomes]
rs7813023	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7814441	0.83[ASN][1000 genomes]
rs7815318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7815325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7833724	0.83[ASN][1000 genomes]
rs9298108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953177	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9694791	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2357662	MYBL1	cis	cerebellum	SCAN
rs2357662	MTFR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66935400-66945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:66938600-66945800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:66938600-66946400	Enhancers	Fetal Thymus	thymus
4	chr8:66938600-66946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:66938600-66946800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:66938800-66945400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr8:66938800-66945600	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:66938800-66946400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:66939600-66952800	Weak transcription	Psoas Muscle	Psoas
10	chr8:66940000-66944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:66940000-66945000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:66940000-66945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:66940200-66946000	Enhancers	Thymus	Thymus
14	chr8:66940400-66945400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:66941000-66945400	Weak transcription	Dnd41	blood
16	chr8:66941400-66945200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:66941800-66945400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:66942000-66948200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:66943400-66945800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:66943600-66945400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:66943800-66945600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:66943800-66946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:66943800-66946400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:66943800-66946400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:66944000-66944800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:66944000-66945400	Enhancers	A549	lung
27	chr8:66944000-66945600	Enhancers	NHDF-Ad	bronchial
28	chr8:66944000-66945600	Enhancers	NHEK	skin
29	chr8:66944000-66945800	Enhancers	Primary B cells from cord blood	blood
30	chr8:66944200-66945600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:66944200-66945600	Enhancers	GM12878-XiMat	blood
32	chr8:66944200-66945600	Enhancers	HMEC	breast
33	chr8:66944200-66946000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:66944400-66945200	Enhancers	Small Intestine	intestine
35	chr8:66944400-66945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:66944400-66945400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr8:66944400-66945400	Enhancers	NHLF	lung
38	chr8:66944400-66945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:66944400-66945600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:66944400-66945600	Enhancers	Pancreas	Pancrea
41	chr8:66944400-66945600	Enhancers	Hela-S3	cervix
42	chr8:66944400-66945800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:66944400-66946000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:66944400-66946000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:66944400-66946000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:66944400-66946000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:66944400-66946000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:66944400-66946000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:66944400-66946200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:66944400-66946200	Enhancers	Duodenum Mucosa	Duodenum

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