Variant report

Variant	rs1247591
Chromosome Location	chr4:74486052-74486053
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD17-2	chr4:74486005-74486134	NONHSAT096864

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1247584	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247586	1.00[AMR][1000 genomes]
rs1247589	1.00[AMR][1000 genomes]
rs1247590	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247597	0.82[AFR][1000 genomes]
rs1247598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247599	0.91[AFR][1000 genomes]
rs1247600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247679	0.97[AFR][1000 genomes]
rs1261933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528920	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729716	1.00[AMR][1000 genomes]
rs1745285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2476027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55678226	1.00[AMR][1000 genomes]
rs6826233	1.00[AMR][1000 genomes]
rs72865466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74484400-74486400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:74484400-74486800	Active TSS	Fetal Stomach	stomach
6	chr4:74484600-74486600	Active TSS	Fetal Intestine Large	intestine
7	chr4:74484800-74486200	Active TSS	Stomach Mucosa	stomach
8	chr4:74484800-74486600	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:74484800-74486600	Active TSS	Fetal Intestine Small	intestine
10	chr4:74485000-74486200	Active TSS	Gastric	stomach
11	chr4:74485000-74486600	Active TSS	Colonic Mucosa	Colon
12	chr4:74485000-74486800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:74485000-74486800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:74485200-74486200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:74485200-74486800	Active TSS	Fetal Kidney	kidney
16	chr4:74485400-74486200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:74485400-74486200	Active TSS	Pancreas	Pancrea
18	chr4:74485400-74486600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:74485400-74486600	Flanking Active TSS	Fetal Thymus	thymus
20	chr4:74485400-74486800	Active TSS	Thymus	Thymus
21	chr4:74485600-74486200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:74485600-74486400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:74485600-74486400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:74485600-74486400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:74485600-74486600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:74485600-74486600	Active TSS	Esophagus	oesophagus
27	chr4:74485600-74486800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr4:74485800-74486200	Active TSS	Primary hematopoietic stem cells	blood
29	chr4:74485800-74486200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:74485800-74486200	Active TSS	GM12878-XiMat	blood
31	chr4:74485800-74486200	Active TSS	NHEK	skin
32	chr4:74485800-74486400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:74485800-74486400	Active TSS	Primary B cells from cord blood	blood
34	chr4:74485800-74486400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:74485800-74486400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:74485800-74486400	Bivalent/Poised TSS	Fetal Lung	lung
37	chr4:74485800-74486400	Active TSS	Lung	lung
38	chr4:74485800-74486400	Active TSS	Ovary	ovary
39	chr4:74485800-74486400	Bivalent/Poised TSS	Small Intestine	intestine
40	chr4:74485800-74486400	Active TSS	HMEC	breast
41	chr4:74485800-74486400	Active TSS	K562	blood
42	chr4:74485800-74486400	Bivalent/Poised TSS	Osteobl	bone
43	chr4:74485800-74486600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr4:74485800-74486600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr4:74485800-74486600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr4:74485800-74486600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:74485800-74486600	Active TSS	Placenta	Placenta
48	chr4:74485800-74486800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:74485800-74486800	Active TSS	Hela-S3	cervix
50	chr4:74485800-74490600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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