Variant report

Variant	rs4148634
Chromosome Location	chr11:17429872-17429873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11607974	1.00[CHB][hapmap]
rs12280242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280281	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293228	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805036	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979602	1.00[CHB][hapmap]
rs2299640	1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[ASN][1000 genomes]
rs4148627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926934	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944045	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929235	1.00[JPT][hapmap];0.81[ASN][1000 genomes]

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	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	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
3	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
4	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:17413200-17432400	Weak transcription	Dnd41	blood
3	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
4	chr11:17422000-17435800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17427800-17434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:17428000-17432600	Weak transcription	Stomach Mucosa	stomach
7	chr11:17428200-17432600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:17428200-17432600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:17428200-17434600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17428400-17433000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:17428400-17434200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:17428400-17434400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:17428400-17434600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:17428600-17432000	Weak transcription	Right Atrium	heart
16	chr11:17428800-17430400	Strong transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:17428800-17431800	Weak transcription	Lung	lung
18	chr11:17428800-17432000	Weak transcription	Adipose Nuclei	Adipose
19	chr11:17428800-17432000	Weak transcription	Gastric	stomach
20	chr11:17428800-17432000	Weak transcription	Right Ventricle	heart
21	chr11:17429000-17431800	Weak transcription	Left Ventricle	heart
22	chr11:17429000-17435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:17429600-17432000	Weak transcription	Pancreas	Pancrea
24	chr11:17429600-17432200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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