Variant report

Variant	rs60916747
Chromosome Location	chr3:20123894-20123895
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20123056..20125408-chr3:20133416..20135559,2	MCF-7	breast:
2	chr3:20119888..20122634-chr3:20122993..20124532,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11128940	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11917197	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11918156	0.90[ASN][1000 genomes]
rs11922657	0.82[ASN][1000 genomes]
rs11923928	0.90[ASN][1000 genomes]
rs12636856	0.82[EUR][1000 genomes]
rs12636894	0.83[ASN][1000 genomes]
rs13083709	0.93[ASN][1000 genomes]
rs3792279	0.97[ASN][1000 genomes]
rs57566579	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59200822	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59256081	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60294437	0.92[EUR][1000 genomes]
rs61440199	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6763504	0.88[ASN][1000 genomes]
rs6771737	0.88[ASN][1000 genomes]
rs6772372	0.82[EUR][1000 genomes]
rs6804701	0.85[ASN][1000 genomes]
rs73818808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73818810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73818811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73818812	0.99[ASN][1000 genomes]
rs73818815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73818816	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73818824	0.82[ASN][1000 genomes]
rs73822403	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7637059	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9842739	0.92[EUR][1000 genomes]
rs9846240	0.92[EUR][1000 genomes]

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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:20106800-20130800	Weak transcription	Fetal Intestine Large	intestine
3	chr3:20108200-20127600	Weak transcription	Ovary	ovary
4	chr3:20110000-20124800	Weak transcription	Placenta	Placenta
5	chr3:20115400-20127200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
7	chr3:20117200-20130800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:20118800-20129200	Weak transcription	Fetal Lung	lung
9	chr3:20120200-20124200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:20121400-20127000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:20122800-20131000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:20123000-20126800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:20123000-20127200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:20123000-20127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:20123000-20127600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:20123000-20127800	Weak transcription	Right Atrium	heart
17	chr3:20123000-20131000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:20123000-20131600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:20123000-20137000	Weak transcription	Spleen	Spleen
20	chr3:20123000-20138400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:20123000-20140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:20123000-20153000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:20123200-20124200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:20123200-20125200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:20123200-20125200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:20123200-20125200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:20123200-20126000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:20123200-20127000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:20123200-20127000	Weak transcription	Fetal Stomach	stomach
30	chr3:20123200-20127200	Weak transcription	Primary B cells from cord blood	blood
31	chr3:20123200-20127200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:20123200-20127200	Weak transcription	Aorta	Aorta
33	chr3:20123200-20127400	Weak transcription	Primary T cells from cord blood	blood
34	chr3:20123200-20127400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:20123200-20127400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:20123200-20127400	Weak transcription	Brain Anterior Caudate	brain
37	chr3:20123200-20127400	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:20123200-20127400	Weak transcription	Fetal Thymus	thymus
39	chr3:20123200-20127400	Weak transcription	Thymus	Thymus
40	chr3:20123200-20127400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:20123200-20127600	Weak transcription	Lung	lung
42	chr3:20123200-20129400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:20123200-20129400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:20123200-20129400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:20123200-20130200	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:20123200-20131000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:20123200-20131000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:20123200-20131000	Weak transcription	Adipose Nuclei	Adipose
49	chr3:20123200-20131000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:20123200-20131000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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