Variant report

Variant	rs1699108
Chromosome Location	chr11:121437267-121437268
allele	A/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	TCF12	chr11:121437080-121438153	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr11:121437137-121437686	ECC-1	luminal epithelium:	n/a	chr11:121437427-121437444
3	EP300	chr11:121437116-121438048	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr11:121437102-121438105	ECC-1	luminal epithelium:	n/a	chr11:121438065-121438093
5	MAX	chr11:121437121-121437906	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr11:121437220-121437883	ECC-1	luminal epithelium:	n/a	chr11:121437427-121437444
7	NFIC	chr11:121437110-121438105	ECC-1	luminal epithelium:	n/a	chr11:121438065-121438093
8	ESR1	chr11:121437227-121437855	ECC-1	luminal epithelium:	n/a	chr11:121437427-121437444
9	TEAD4	chr11:121437182-121437982	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr11:121437235-121437933	ECC-1	luminal epithelium:	n/a	n/a
11	FOXM1	chr11:121437194-121438024	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr11:121437209-121438062	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10892759	0.80[CEU][hapmap]
rs1503422	0.80[CEU][hapmap]
rs1503423	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1614735	0.90[CHB][hapmap]
rs1620003	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs1625828	0.80[CEU][hapmap]
rs1699096	0.89[CHB][hapmap]
rs1699103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699106	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784923	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1784931	0.90[CHB][hapmap]
rs1790213	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1792113	0.80[CEU][hapmap]
rs1792122	1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1792125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639648	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]
rs640479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112853	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116734	0.96[CEU][hapmap];0.89[AMR][1000 genomes]
rs7116751	0.88[AMR][1000 genomes]
rs924746	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
9	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:121417800-121439000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:121422400-121437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:121424800-121441800	Weak transcription	Fetal Brain Male	brain
15	chr11:121425000-121442600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
18	chr11:121425800-121437600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:121426600-121439200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:121427200-121442800	Weak transcription	Pancreas	Pancrea
21	chr11:121427800-121439200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:121428200-121441800	Weak transcription	Esophagus	oesophagus
23	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr11:121430000-121437600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:121430000-121439800	Strong transcription	Dnd41	blood
26	chr11:121430600-121437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:121430800-121437400	Weak transcription	Brain Anterior Caudate	brain
28	chr11:121430800-121437400	Weak transcription	Colonic Mucosa	Colon
29	chr11:121430800-121437400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:121430800-121443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:121430800-121446200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:121431000-121442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:121431000-121466400	Weak transcription	Ovary	ovary
34	chr11:121431200-121437400	Weak transcription	Brain Germinal Matrix	brain
35	chr11:121431600-121437400	Weak transcription	Fetal Brain Female	brain
36	chr11:121432200-121437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:121432400-121437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:121432600-121437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:121432800-121437600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:121432800-121450000	Weak transcription	Aorta	Aorta
41	chr11:121433200-121437600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:121433400-121437600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:121433600-121437400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:121433800-121437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:121434400-121451200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:121434600-121437400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:121434600-121439000	Strong transcription	Primary B cells from cord blood	blood
48	chr11:121434600-121439600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:121434600-121453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:121434800-121439200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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