Variant report

Variant	rs9850217
Chromosome Location	chr3:20091572-20091573
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	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
2	chr3:20089290..20092094-chr3:20224764..20226931,2	K562	blood:

Variant related genes	Relation type
ENSG00000129810	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9850104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9877207	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20083000-20098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:20083800-20092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:20085000-20092400	Weak transcription	Gastric	stomach
4	chr3:20085000-20095800	Weak transcription	Spleen	Spleen
5	chr3:20085200-20092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:20085200-20092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:20085200-20098200	Weak transcription	Fetal Kidney	kidney
8	chr3:20085400-20095800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:20085400-20096000	Weak transcription	Pancreas	Pancrea
10	chr3:20085600-20095400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:20085800-20093000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:20085800-20096000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:20086200-20092400	Weak transcription	Right Ventricle	heart
14	chr3:20086200-20092800	Weak transcription	Fetal Heart	heart
15	chr3:20086200-20094200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:20086200-20095800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:20086200-20096000	Weak transcription	Lung	lung
18	chr3:20086200-20096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:20086200-20102800	Weak transcription	Fetal Intestine Small	intestine
20	chr3:20086400-20096000	Weak transcription	K562	blood
21	chr3:20087000-20092000	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr3:20087600-20099400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:20088200-20096000	Weak transcription	Primary T cells from cord blood	blood
24	chr3:20088600-20093600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:20088800-20091600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:20088800-20092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:20089400-20092200	Weak transcription	Fetal Thymus	thymus
28	chr3:20089800-20096000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:20089800-20096200	Weak transcription	Brain Germinal Matrix	brain
30	chr3:20090000-20095800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:20090200-20091600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:20090200-20091800	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:20090200-20092000	Enhancers	Brain Hippocampus Middle	brain
34	chr3:20090200-20092400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:20090200-20093200	Enhancers	Psoas Muscle	Psoas
36	chr3:20090200-20094600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:20090200-20095600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:20090200-20096000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:20090200-20096400	Weak transcription	Fetal Brain Male	brain
40	chr3:20090200-20096400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:20090200-20098400	Weak transcription	Ovary	ovary
42	chr3:20090400-20091600	Enhancers	Esophagus	oesophagus
43	chr3:20090400-20092200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:20090400-20092200	Weak transcription	Colonic Mucosa	Colon
45	chr3:20090400-20092200	Weak transcription	Right Atrium	heart
46	chr3:20090400-20092400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:20090400-20092800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:20090400-20093200	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:20090400-20095600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:20090400-20095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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