Variant report

Variant	rs57687524
Chromosome Location	chr11:121434696-121434697
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	EP300	chr11:121434513-121434961	HepG2	liver:	n/a	chr11:121434714-121434728 chr11:121434715-121434724
2	TEAD4	chr11:121434453-121434985	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:121434568-121436352	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11218348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292354	0.88[AFR][1000 genomes];1.00[AMR][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	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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	chr11:121391400-121437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:121395200-121434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
6	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:121404600-121437200	Weak transcription	Lung	lung
8	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:121412800-121435200	Weak transcription	Small Intestine	intestine
11	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
14	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:121417800-121439000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:121422400-121437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:121422800-121437200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:121424600-121436400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:121424800-121441800	Weak transcription	Fetal Brain Male	brain
22	chr11:121425000-121442600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
25	chr11:121425800-121437600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:121426600-121439200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:121427200-121442800	Weak transcription	Pancreas	Pancrea
28	chr11:121427400-121437200	Weak transcription	Gastric	stomach
29	chr11:121427800-121439200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:121428200-121441800	Weak transcription	Esophagus	oesophagus
31	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:121428600-121436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:121429400-121437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:121429600-121434800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:121429800-121434800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:121429800-121436200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:121430000-121437600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:121430000-121439800	Strong transcription	Dnd41	blood
39	chr11:121430600-121437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:121430800-121436600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:121430800-121437400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:121430800-121437400	Weak transcription	Colonic Mucosa	Colon
43	chr11:121430800-121437400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:121430800-121443000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:121430800-121446200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:121431000-121435600	Weak transcription	Brain Angular Gyrus	brain
47	chr11:121431000-121435600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:121431000-121436200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:121431000-121436600	Weak transcription	HMEC	breast
50	chr11:121431000-121442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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