Variant report

Variant	rs60352508
Chromosome Location	chr11:121524818-121524819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121524308..121528407-chr11:121529156..121532838,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1111328	1.00[AMR][1000 genomes]
rs57157790	1.00[AMR][1000 genomes]
rs58028774	1.00[AMR][1000 genomes]
rs58482024	1.00[AMR][1000 genomes]
rs73597357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73597361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121463000-121525400	Weak transcription	Fetal Kidney	kidney
2	chr11:121492000-121525000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:121498600-121526200	Weak transcription	Spleen	Spleen
4	chr11:121505200-121525600	Weak transcription	Liver	Liver
5	chr11:121506200-121525800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:121514800-121525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:121515800-121525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:121520600-121525400	Weak transcription	Gastric	stomach
9	chr11:121520800-121525000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:121521200-121525200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:121521400-121525000	Enhancers	Brain Germinal Matrix	brain
12	chr11:121521400-121525000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:121521400-121525000	Weak transcription	NHDF-Ad	bronchial
14	chr11:121521400-121525200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:121521400-121525400	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:121521600-121525000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:121521800-121526000	Weak transcription	GM12878-XiMat	blood
18	chr11:121522000-121525800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:121522000-121526000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:121522200-121525800	Weak transcription	Primary T cells from cord blood	blood
21	chr11:121522200-121525800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:121522200-121525800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:121522400-121525600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:121522400-121525600	Weak transcription	Thymus	Thymus
25	chr11:121522400-121525800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:121522400-121525800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:121522400-121525800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:121522400-121526000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:121522400-121526000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:121522400-121526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:121522600-121525800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:121522800-121525600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:121522800-121525800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:121522800-121525800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:121523000-121525000	Weak transcription	Fetal Thymus	thymus
36	chr11:121523000-121525800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:121523200-121525600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:121523200-121525800	Enhancers	Fetal Brain Male	brain
39	chr11:121523200-121526000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:121523400-121525000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:121523400-121525800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:121523400-121525800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:121523400-121525800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr11:121523400-121526000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:121523600-121525600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:121523600-121525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:121523800-121525000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:121523800-121525400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:121523800-121525800	Enhancers	Brain Anterior Caudate	brain
50	chr11:121523800-121526000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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