Variant report

Variant	rs62243099
Chromosome Location	chr3:20112796-20112797
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	chr3:20111734..20113270-chr3:20113749..20115921,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12493539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62241663	1.00[AFR][1000 genomes]
rs62241700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62241709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:20099400-20122800	Weak transcription	Lung	lung
5	chr3:20102800-20113400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:20103200-20112800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:20103200-20113000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:20103200-20113000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:20103200-20113000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:20103200-20113200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:20103200-20114000	Weak transcription	Liver	Liver
13	chr3:20103200-20119400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:20104400-20113400	Enhancers	Brain Hippocampus Middle	brain
16	chr3:20105800-20113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
19	chr3:20107000-20116800	Weak transcription	Small Intestine	intestine
20	chr3:20107000-20117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:20107000-20122600	Weak transcription	Gastric	stomach
22	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
23	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:20107400-20112800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:20107800-20113200	Weak transcription	Right Atrium	heart
27	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
28	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
29	chr3:20108200-20127600	Weak transcription	Ovary	ovary
30	chr3:20108600-20113000	Weak transcription	Thymus	Thymus
31	chr3:20108600-20113200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:20108600-20113200	Weak transcription	Left Ventricle	heart
33	chr3:20109000-20113400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:20109000-20113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:20109000-20115200	Weak transcription	Hela-S3	cervix
36	chr3:20109000-20121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:20109200-20112800	Weak transcription	HSMM	muscle
38	chr3:20109200-20113200	Weak transcription	Fetal Stomach	stomach
39	chr3:20109200-20113600	Weak transcription	Fetal Lung	lung
40	chr3:20109200-20115200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:20109200-20115200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:20109400-20113200	Weak transcription	Fetal Thymus	thymus
44	chr3:20109600-20113400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:20109600-20116800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
47	chr3:20110200-20113000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:20110200-20122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:20110600-20112800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:20110600-20112800	Weak transcription	Brain Angular Gyrus	brain

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