Variant report

Variant	rs4148642
Chromosome Location	chr11:17419500-17419501
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	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11604345	0.85[ASN][1000 genomes]
rs1799859	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148640	0.96[EUR][1000 genomes]
rs4148641	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148644	0.92[ASN][1000 genomes]
rs4757512	0.83[ASN][1000 genomes]
rs739689	0.98[ASN][1000 genomes]
rs7932833	0.96[EUR][1000 genomes]
rs7935408	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411400-17422600	Weak transcription	Right Atrium	heart
2	chr11:17411800-17426000	Weak transcription	Lung	lung
3	chr11:17411800-17426000	Weak transcription	Pancreas	Pancrea
4	chr11:17411800-17426800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:17411800-17426800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17413200-17432400	Weak transcription	Dnd41	blood
8	chr11:17413800-17420000	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr11:17414000-17421000	Strong transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:17416200-17423800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17417400-17422800	Weak transcription	Brain Anterior Caudate	brain
12	chr11:17417800-17422600	Strong transcription	Brain Cingulate Gyrus	brain
13	chr11:17417800-17428200	Weak transcription	Gastric	stomach
14	chr11:17418200-17420600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:17418600-17419600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
17	chr11:17419000-17420000	Strong transcription	Brain Germinal Matrix	brain
18	chr11:17419200-17419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:17419200-17419800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17419400-17421800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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