Variant report

Variant	rs57505943
Chromosome Location	chr11:121418415-121418416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121417486..121419268-chr11:121422496..121424690,3	K562	blood:
2	chr11:121417486..121419268-chr11:121423006..121424690,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11501162	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12277675	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12421319	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4935776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	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:96 , 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	chr11:121395400-121424600	Weak transcription	Gastric	stomach
4	chr11:121396400-121445000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:121396600-121437600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:121396800-121425400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:121397000-121434800	Weak transcription	Fetal Kidney	kidney
8	chr11:121399000-121443200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:121404600-121437200	Weak transcription	Lung	lung
10	chr11:121405400-121421000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:121405600-121437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:121405800-121420800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:121406200-121423400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:121409800-121420800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:121409800-121423800	Strong transcription	Liver	Liver
17	chr11:121410000-121424600	Weak transcription	Ovary	ovary
18	chr11:121411400-121419000	Strong transcription	HepG2	liver
19	chr11:121411800-121433600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:121412200-121420200	Weak transcription	HMEC	breast
21	chr11:121412400-121419000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:121412800-121435200	Weak transcription	Small Intestine	intestine
23	chr11:121413600-121429400	Weak transcription	Left Ventricle	heart
24	chr11:121414000-121418600	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr11:121414000-121418600	Strong transcription	Fetal Intestine Large	intestine
26	chr11:121414000-121418600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:121414000-121418800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:121414000-121419000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:121414000-121419200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr11:121414000-121421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:121414000-121433600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:121414200-121418600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:121414200-121418600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:121414200-121418800	Strong transcription	Spleen	Spleen
36	chr11:121414200-121419600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:121414400-121418600	Strong transcription	Fetal Lung	lung
38	chr11:121415200-121419200	Strong transcription	Primary B cells from cord blood	blood
39	chr11:121415200-121421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:121415800-121421200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:121415800-121424200	Weak transcription	Stomach Mucosa	stomach
42	chr11:121416000-121424600	Weak transcription	Pancreas	Pancrea
43	chr11:121416200-121419000	Weak transcription	Right Ventricle	heart
44	chr11:121416200-121422000	Weak transcription	Fetal Brain Male	brain
45	chr11:121416200-121422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:121416200-121429200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:121416400-121420600	Weak transcription	NHEK	skin
48	chr11:121416400-121423400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:121416400-121427400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:121416400-121433600	Strong transcription	Primary B cells from peripheral blood	blood

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