Variant report

Variant	rs3737529
Chromosome Location	chr11:121477816-121477817
allele	C/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	POLR2A	chr11:121477299-121478340	GM12891	blood:	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:16)

rs_ID	r²[population]
rs11218360	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11604897	0.83[CHB][hapmap]
rs11828225	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs12274536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12274541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12287339	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17125473	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17125497	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17125523	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17125548	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2282647	0.89[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781831	1.00[AFR][1000 genomes]
rs3781834	1.00[AFR][1000 genomes]
rs3781837	1.00[AFR][1000 genomes]
rs3824969	0.81[ASN][1000 genomes]
rs59260691	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv527072	chr11:121448090-121486552	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34768	chr11:121452651-121534938	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv818867	chr11:121472993-121534938	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2757477	chr11:121473598-121540642	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759866	chr11:121473598-121540642	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
3	chr11:121451200-121488200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:121453200-121504200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:121453400-121491200	Weak transcription	Small Intestine	intestine
6	chr11:121453400-121505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:121454000-121503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:121454400-121504000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:121454800-121503600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:121455600-121503800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:121456600-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:121458000-121495000	Weak transcription	Right Ventricle	heart
13	chr11:121459200-121501400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:121460400-121491800	Weak transcription	Left Ventricle	heart
15	chr11:121461000-121491200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:121461400-121506200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:121461800-121505400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:121462200-121484400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:121462200-121490400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:121462200-121500400	Strong transcription	Fetal Thymus	thymus
21	chr11:121462200-121503600	Strong transcription	Primary B cells from cord blood	blood
22	chr11:121462200-121504200	Strong transcription	Dnd41	blood
23	chr11:121462200-121505600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:121462200-121505800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:121462400-121505200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:121462600-121495200	Weak transcription	Fetal Brain Male	brain
27	chr11:121462600-121503400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:121463000-121525400	Weak transcription	Fetal Kidney	kidney
29	chr11:121463200-121504000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:121463400-121505200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:121463600-121487000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:121464600-121506000	Strong transcription	GM12878-XiMat	blood
33	chr11:121465400-121486800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:121467400-121478000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:121467400-121485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:121467400-121488200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:121468200-121501800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:121469400-121496400	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:121470400-121503800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:121470600-121482600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:121470800-121485200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:121472200-121487200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:121472200-121503400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:121472400-121484000	Strong transcription	Fetal Brain Female	brain
45	chr11:121472400-121484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:121472400-121485200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:121472400-121496800	Strong transcription	NHEK	skin
48	chr11:121472400-121502800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:121472600-121485200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:121472600-121500200	Strong transcription	Rectal Mucosa Donor 29	rectum

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