Variant report

Variant	rs9835623
Chromosome Location	chr3:20083675-20083676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20082249..20087148-chr3:20090873..20095169,4	K562	blood:
2	chr3:19986985..19992254-chr3:20079680..20083856,14	K562	blood:
3	chr3:20083177..20086049-chr3:20086105..20087867,2	MCF-7	breast:
4	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:

Variant related genes	Relation type
ENSG00000144566	Chromatin interaction
ENSG00000163576	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6773122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9849842	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20080400-20083800	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr3:20080800-20084400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:20082600-20083800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr3:20082600-20083800	Active TSS	Right Atrium	heart
5	chr3:20082600-20083800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr3:20082800-20084000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr3:20082800-20085800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr3:20083000-20083800	Flanking Active TSS	Fetal Thymus	thymus
9	chr3:20083000-20083800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr3:20083000-20083800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:20083000-20084000	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr3:20083000-20084600	Weak transcription	Small Intestine	intestine
13	chr3:20083000-20085000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:20083000-20098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:20083200-20083800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr3:20083200-20083800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr3:20083200-20083800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr3:20083200-20083800	Flanking Active TSS	Fetal Heart	heart
19	chr3:20083200-20083800	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr3:20083200-20083800	Weak transcription	Gastric	stomach
21	chr3:20083200-20083800	Weak transcription	Left Ventricle	heart
22	chr3:20083200-20083800	Weak transcription	Lung	lung
23	chr3:20083200-20083800	Enhancers	Stomach Mucosa	stomach
24	chr3:20083200-20083800	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:20083200-20083800	Enhancers	NH-A	brain
26	chr3:20083200-20084000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr3:20083200-20084000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr3:20083200-20084000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr3:20083200-20084000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr3:20083200-20084000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr3:20083200-20084200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:20083200-20084600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:20083200-20084600	Weak transcription	Esophagus	oesophagus
34	chr3:20083200-20084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:20083200-20084800	Weak transcription	Aorta	Aorta
36	chr3:20083200-20085000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:20083200-20086200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr3:20083200-20088600	Weak transcription	Ovary	ovary
39	chr3:20083400-20083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:20083400-20083800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:20083400-20083800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:20083400-20083800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:20083400-20083800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:20083400-20083800	Enhancers	HepG2	liver
45	chr3:20083400-20084000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:20083400-20084000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:20083400-20084000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:20083400-20084000	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr3:20083400-20084000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr3:20083400-20084200	Enhancers	HMEC	breast

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