Variant report

Variant	rs531990812
Chromosome Location	chr3:20119989-20119990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20118517..20120600-chr3:20130067..20133062,2	K562	blood:
2	chr3:20119888..20122634-chr3:20122993..20124532,2	K562	blood:
3	chr3:19971963..19973820-chr3:20118218..20121203,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	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
11	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
12	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
13	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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
14	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
2	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:20099400-20122800	Weak transcription	Lung	lung
4	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:20103200-20122200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
8	chr3:20107000-20122600	Weak transcription	Gastric	stomach
9	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
10	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:20107200-20122400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
13	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
14	chr3:20108200-20127600	Weak transcription	Ovary	ovary
15	chr3:20109000-20121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:20109200-20122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
18	chr3:20110200-20122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:20110800-20121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:20110800-20121200	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:20110800-20122000	Weak transcription	Stomach Mucosa	stomach
22	chr3:20111000-20122600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:20111600-20121600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:20113400-20122600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:20113400-20122600	Weak transcription	HSMMtube	muscle
26	chr3:20113600-20122000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:20113600-20122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:20113600-20122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:20113800-20121800	Weak transcription	Right Atrium	heart
30	chr3:20114200-20121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:20114200-20121800	Weak transcription	Adipose Nuclei	Adipose
32	chr3:20114200-20122000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:20114800-20122600	Weak transcription	Fetal Stomach	stomach
34	chr3:20115000-20121800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:20115000-20122400	Weak transcription	HepG2	liver
36	chr3:20115200-20121200	Weak transcription	Fetal Thymus	thymus
37	chr3:20115400-20127200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:20115600-20122600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:20115800-20122600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:20116200-20121000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:20116200-20121000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:20116200-20122600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:20116400-20121000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:20116400-20121400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:20116400-20121400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:20116400-20121400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:20116400-20121600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:20116400-20122600	Weak transcription	Hela-S3	cervix
49	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
50	chr3:20117000-20121000	Weak transcription	Primary T cells from cord blood	blood

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