Variant report

Variant	rs10792104
Chromosome Location	chr11:57328155-57328156
allele	A/G
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	SP1	chr11:57327509-57328160	HCT-116	colon:	n/a	chr11:57327956-57327968 chr11:57327958-57327967 chr11:57327957-57327971 chr11:57327956-57327968

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57327395..57330441-chr11:57334291..57337676,3	K562	blood:
2	chr11:57327644..57330005-chr11:57333922..57337612,3	MCF-7	breast:

Variant related genes	Relation type
UBE2L6	TF binding region
ENSG00000156587	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10792101	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10792106	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792107	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896629	0.81[ASN][1000 genomes]
rs11229057	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362945	0.80[ASN][1000 genomes]
rs3891975	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938869	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4938871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938873	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939149	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4939152	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939153	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886733	0.92[ASN][1000 genomes]
rs61886736	0.92[ASN][1000 genomes]
rs61887019	0.92[ASN][1000 genomes]
rs7101425	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7112126	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123582	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124330	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128015	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131076	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940223	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950126	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	80 gene(s)	inside rSNPs	diseases
9	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10792104	SMTNL1	cis	Adipose Subcutaneous	GTEx
rs10792104	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs10792104	SMTNL1	cis	Artery Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57299200-57333000	Weak transcription	Right Atrium	heart
2	chr11:57307200-57333600	Weak transcription	HMEC	breast
3	chr11:57309200-57333400	Weak transcription	Psoas Muscle	Psoas
4	chr11:57313200-57330000	Strong transcription	Dnd41	blood
5	chr11:57313600-57328600	Strong transcription	Lung	lung
6	chr11:57314000-57328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:57314000-57328600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:57314000-57330200	Strong transcription	Fetal Intestine Small	intestine
9	chr11:57314000-57330400	Strong transcription	Primary T cells from cord blood	blood
10	chr11:57314200-57329800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:57314800-57330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:57315000-57330000	Weak transcription	NHEK	skin
13	chr11:57315200-57329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:57315200-57329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57315200-57330600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:57315400-57329000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:57315600-57330600	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:57315800-57328200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:57315800-57330000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:57315800-57330200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:57315800-57330800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:57316400-57329000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:57316800-57329200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:57316800-57329400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:57317000-57328200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr11:57320600-57329600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:57320600-57333400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:57320600-57334800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:57320800-57332800	Weak transcription	Stomach Mucosa	stomach
30	chr11:57321000-57333400	Weak transcription	HepG2	liver
31	chr11:57322000-57329400	Weak transcription	K562	blood
32	chr11:57322000-57329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:57322000-57334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:57322200-57328800	Weak transcription	Small Intestine	intestine
35	chr11:57322200-57329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:57322200-57333200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:57322200-57333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:57322200-57333400	Weak transcription	HSMMtube	muscle
39	chr11:57322200-57333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:57322200-57333600	Weak transcription	Right Ventricle	heart
41	chr11:57322800-57333400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:57323000-57333200	Weak transcription	NHDF-Ad	bronchial
43	chr11:57323800-57333800	Weak transcription	Aorta	Aorta
44	chr11:57324000-57328200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:57324000-57334000	Weak transcription	Pancreas	Pancrea
46	chr11:57324400-57333800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:57324800-57332800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:57324800-57333200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:57325800-57329200	Strong transcription	Primary B cells from cord blood	blood
50	chr11:57326400-57332800	Weak transcription	Brain Substantia Nigra	brain

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