Variant report

Variant	rs6762568
Chromosome Location	chr3:53070974-53070975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53069872..53071542-chr3:53073094..53075949,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28410990	1.00[AMR][1000 genomes]
rs28567057	1.00[AMR][1000 genomes]
rs28663520	1.00[AMR][1000 genomes]
rs28703847	1.00[AMR][1000 genomes]
rs6765981	1.00[AMR][1000 genomes]
rs9819981	1.00[AMR][1000 genomes]
rs9878673	1.00[AMR][1000 genomes]
rs9879091	1.00[AMR][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:54 , 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	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
4	chr3:53061800-53074400	Weak transcription	Osteobl	bone
5	chr3:53062200-53074400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:53062200-53076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:53062200-53077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:53062400-53071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:53064000-53078400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:53065400-53073000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:53065400-53073000	Weak transcription	Esophagus	oesophagus
12	chr3:53065400-53074400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:53065400-53077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:53065400-53078600	Weak transcription	Gastric	stomach
15	chr3:53065600-53072600	Weak transcription	NHEK	skin
16	chr3:53065600-53077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:53065800-53073000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:53065800-53076200	Weak transcription	Primary B cells from cord blood	blood
19	chr3:53066200-53076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:53068000-53077600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:53068200-53072000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:53068600-53071000	Enhancers	Fetal Intestine Small	intestine
23	chr3:53068600-53071200	Enhancers	Fetal Intestine Large	intestine
24	chr3:53068600-53075000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:53068800-53071200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:53068800-53071600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:53068800-53071600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:53068800-53071600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:53068800-53071600	Enhancers	HepG2	liver
30	chr3:53068800-53077400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:53069000-53071000	Enhancers	A549	lung
32	chr3:53069000-53071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr3:53069200-53077800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:53069200-53077800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:53069800-53071000	Enhancers	Small Intestine	intestine
36	chr3:53069800-53073000	Weak transcription	Pancreas	Pancrea
37	chr3:53069800-53077600	Weak transcription	Stomach Mucosa	stomach
38	chr3:53070000-53071400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:53070000-53071400	Enhancers	Dnd41	blood
40	chr3:53070200-53071000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:53070200-53072400	Weak transcription	Liver	Liver
42	chr3:53070200-53077800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:53070400-53071000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:53070400-53071000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:53070400-53071400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:53070400-53071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:53070600-53071000	Enhancers	Right Ventricle	heart
48	chr3:53070600-53071200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:53070600-53071200	Enhancers	Fetal Heart	heart
50	chr3:53070600-53071200	Enhancers	Sigmoid Colon	Sigmoid Colon

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