Variant report

Variant	rs9998244
Chromosome Location	chr4:120500686-120500687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10003953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10010097	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012406	1.00[AMR][1000 genomes]
rs10015714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015999	1.00[AMR][1000 genomes]
rs10017842	1.00[AMR][1000 genomes]
rs10021318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023384	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027735	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028634	1.00[AMR][1000 genomes]
rs10029882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032392	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213498	1.00[AMR][1000 genomes]
rs10471013	1.00[AMR][1000 genomes]
rs11098519	1.00[AMR][1000 genomes]
rs11098520	1.00[AMR][1000 genomes]
rs28380652	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399227	1.00[AMR][1000 genomes]
rs28405434	1.00[AMR][1000 genomes]
rs28419430	1.00[AMR][1000 genomes]
rs28436005	1.00[AMR][1000 genomes]
rs28450144	1.00[AMR][1000 genomes]
rs28461667	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28469881	1.00[AMR][1000 genomes]
rs28470408	1.00[AMR][1000 genomes]
rs28535588	1.00[AMR][1000 genomes]
rs28576329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28590285	1.00[AMR][1000 genomes]
rs28615474	1.00[AMR][1000 genomes]
rs28622207	1.00[AMR][1000 genomes]
rs28634062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639494	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639769	1.00[AMR][1000 genomes]
rs28651206	1.00[AMR][1000 genomes]
rs28654414	1.00[AMR][1000 genomes]
rs28665114	1.00[AMR][1000 genomes]
rs28669906	1.00[AMR][1000 genomes]
rs28709577	1.00[AMR][1000 genomes]
rs28736368	1.00[AMR][1000 genomes]
rs28864814	1.00[AMR][1000 genomes]
rs28870820	1.00[AMR][1000 genomes]
rs3872804	1.00[AMR][1000 genomes]
rs55905129	1.00[AMR][1000 genomes]
rs56191916	1.00[AMR][1000 genomes]
rs57295141	1.00[AMR][1000 genomes]
rs57516186	1.00[AMR][1000 genomes]
rs59116083	1.00[AMR][1000 genomes]
rs61729464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61823285	1.00[AMR][1000 genomes]
rs72918555	1.00[AMR][1000 genomes]
rs72918590	1.00[AMR][1000 genomes]
rs72918597	1.00[AMR][1000 genomes]
rs72920607	1.00[AMR][1000 genomes]
rs72920619	1.00[AMR][1000 genomes]
rs72920685	1.00[AMR][1000 genomes]
rs9307478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884290	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884542	1.00[AMR][1000 genomes]
rs9993996	1.00[AMR][1000 genomes]
rs9996803	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9997423	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
2	chr4:120478600-120501000	Weak transcription	Fetal Stomach	stomach
3	chr4:120485800-120503800	Weak transcription	Aorta	Aorta
4	chr4:120485800-120520000	Weak transcription	Small Intestine	intestine
5	chr4:120486200-120503800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:120486200-120504800	Weak transcription	NH-A	brain
7	chr4:120486600-120502800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:120486600-120516600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:120486800-120503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:120486800-120515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:120486800-120516400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:120488000-120501000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:120488200-120501200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:120488200-120510200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:120488400-120504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:120492200-120502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:120492200-120513800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:120492400-120501200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:120492400-120501600	Weak transcription	Fetal Lung	lung
22	chr4:120493400-120501000	Weak transcription	Osteobl	bone
23	chr4:120494200-120501000	Weak transcription	NHLF	lung
24	chr4:120495600-120501000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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