Variant report

Variant	rs17124128
Chromosome Location	chr11:120516288-120516289
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	chr11:120515523..120518309-chr2:64241158..64243356,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502239	1.00[TSI][hapmap]
rs12273151	1.00[EUR][1000 genomes]
rs17124064	1.00[TSI][hapmap]
rs17124122	0.87[AMR][1000 genomes]
rs7101638	1.00[EUR][1000 genomes]
rs7926067	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120512400-120516600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:120512800-120537800	Weak transcription	Ovary	ovary
3	chr11:120514400-120519800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:120514400-120543600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:120514800-120517200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr11:120515200-120516400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120515200-120517000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:120515200-120517200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:120515200-120517400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:120515800-120516600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr11:120515800-120517000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr11:120516000-120516400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr11:120516000-120516400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr11:120516000-120516400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr11:120516000-120516400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:120516000-120516600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:120516000-120516600	Enhancers	Spleen	Spleen
18	chr11:120516000-120516800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:120516000-120517000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:120516200-120516400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
21	chr11:120516200-120516400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr11:120516200-120516400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
23	chr11:120516200-120516400	Bivalent Enhancer	Fetal Lung	lung
24	chr11:120516200-120516600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:120516200-120516600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr11:120516200-120516600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr11:120516200-120516600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:120516200-120516600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr11:120516200-120516800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:120516200-120516800	Bivalent Enhancer	Fetal Heart	heart
31	chr11:120516200-120516800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:120516200-120516800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:120516200-120516800	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr11:120516200-120517000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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