Variant report

Variant	rs375377593
Chromosome Location	chr3:20122573-20122574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20120814..20122685-chr3:20125426..20127152,2	K562	blood:
2	chr3:20116266..20118891-chr3:20121268..20123312,2	MCF-7	breast:
3	chr3:20121220..20122803-chr3:20153116..20155641,2	MCF-7	breast:
4	chr3:20119888..20122634-chr3:20122993..20124532,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv1830036	chr3:20121828-20278275	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	esv1830599	chr3:20121828-20375643	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 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	chr3:20106400-20122600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:20107000-20122600	Weak transcription	Gastric	stomach
8	chr3:20107000-20122600	Weak transcription	Pancreas	Pancrea
9	chr3:20107000-20122600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:20107800-20122600	Weak transcription	Spleen	Spleen
11	chr3:20107800-20122800	Weak transcription	Esophagus	oesophagus
12	chr3:20108200-20127600	Weak transcription	Ovary	ovary
13	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
14	chr3:20111000-20122600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:20113400-20122600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:20113400-20122600	Weak transcription	HSMMtube	muscle
17	chr3:20113600-20122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:20113600-20122600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:20114800-20122600	Weak transcription	Fetal Stomach	stomach
20	chr3:20115400-20127200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:20115600-20122600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:20115800-20122600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:20116200-20122600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:20116400-20122600	Weak transcription	Hela-S3	cervix
25	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
26	chr3:20117200-20130800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:20117400-20122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:20117400-20122600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:20118800-20122600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:20118800-20122600	Weak transcription	K562	blood
31	chr3:20118800-20129200	Weak transcription	Fetal Lung	lung
32	chr3:20119000-20122600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:20119000-20122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:20119000-20123200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:20120200-20122600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:20120200-20124200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:20120600-20123200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:20120800-20122600	Strong transcription	Primary B cells from cord blood	blood
39	chr3:20120800-20122600	Enhancers	Brain Substantia Nigra	brain
40	chr3:20121000-20122800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:20121000-20123000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:20121000-20123000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:20121000-20123200	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:20121000-20123200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:20121000-20123200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:20121000-20123200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:20121200-20122800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:20121200-20123200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:20121200-20123200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:20121200-20123200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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