Variant report

Variant	rs60744886
Chromosome Location	chr3:53067653-53067654
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	chr3:53066267..53068975-chr3:53075224..53077291,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28696085	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3806693	1.00[ASN][1000 genomes]
rs55794978	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885034	1.00[ASN][1000 genomes]
rs56835905	1.00[ASN][1000 genomes]
rs57940327	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58309671	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	1.00[ASN][1000 genomes]
rs59515578	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	1.00[ASN][1000 genomes]
rs61285888	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61437303	1.00[ASN][1000 genomes]
rs61438885	1.00[ASN][1000 genomes]
rs72965345	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965350	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965354	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965362	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965366	1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7631487	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9819608	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9822686	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
2	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
4	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
5	chr3:53061800-53070000	Weak transcription	Psoas Muscle	Psoas
6	chr3:53061800-53070800	Weak transcription	Left Ventricle	heart
7	chr3:53061800-53074400	Weak transcription	Osteobl	bone
8	chr3:53062200-53074400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:53062200-53076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:53062200-53077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:53062400-53071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53063600-53067800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:53064000-53078400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:53065200-53069000	Weak transcription	Stomach Mucosa	stomach
15	chr3:53065400-53068600	Weak transcription	Fetal Intestine Large	intestine
16	chr3:53065400-53068600	Weak transcription	Fetal Intestine Small	intestine
17	chr3:53065400-53068800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:53065400-53068800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:53065400-53070200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:53065400-53070200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:53065400-53070600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:53065400-53073000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:53065400-53073000	Weak transcription	Esophagus	oesophagus
24	chr3:53065400-53074400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:53065400-53077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:53065400-53078600	Weak transcription	Gastric	stomach
27	chr3:53065600-53072600	Weak transcription	NHEK	skin
28	chr3:53065600-53077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:53065800-53068800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:53065800-53070000	Weak transcription	Dnd41	blood
31	chr3:53065800-53070400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:53065800-53073000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:53065800-53076200	Weak transcription	Primary B cells from cord blood	blood
34	chr3:53066200-53068800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:53066200-53069000	Weak transcription	Pancreas	Pancrea
36	chr3:53066200-53070600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:53066200-53070800	Weak transcription	Right Atrium	heart
38	chr3:53066200-53076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:53066400-53068200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:53066600-53068800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:53066600-53069000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:53066800-53068600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:53066800-53068800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:53066800-53069000	Weak transcription	Primary T cells from cord blood	blood
45	chr3:53066800-53070000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:53067000-53068000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:53067000-53068800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:53067200-53068800	Weak transcription	Liver	Liver
49	chr3:53067200-53068800	Weak transcription	HepG2	liver
50	chr3:53067600-53069000	Weak transcription	A549	lung

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