Variant report

Variant	rs12515405
Chromosome Location	chr5:36742210-36742211
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36737437..36743261-chr5:36869203..36877805,11	K562	blood:
2	chr5:36735951..36742213-chr5:36874615..36878501,8	K562	blood:
3	chr5:36731899..36747051-chr5:36866466..36880074,35	MCF-7	breast:
4	chr5:36736304..36738709-chr5:36742165..36743928,2	K562	blood:
5	chr5:36737510..36747021-chr5:36869125..36879786,23	MCF-7	breast:
6	chr5:36740003..36742433-chr5:37003090..37005628,2	MCF-7	breast:
7	chr5:36741088..36745086-chr5:36779316..36782970,3	MCF-7	breast:
8	chr5:36741473..36743649-chr5:36746323..36748816,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10941315	0.86[ASN][1000 genomes]
rs13157870	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13162139	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13177532	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886219	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34265144	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36674	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6892066	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736917	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3516898	chr5:36740639-36744297	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3516897	chr5:36740678-36744440	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36729200-36744200	Weak transcription	Spleen	Spleen
2	chr5:36738000-36743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36738800-36743000	Weak transcription	Fetal Brain Female	brain
4	chr5:36739200-36742400	Enhancers	Fetal Muscle Leg	muscle
5	chr5:36739800-36744400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:36740000-36743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:36740200-36742400	Enhancers	Fetal Stomach	stomach
8	chr5:36740200-36743800	Weak transcription	NHEK	skin
9	chr5:36740200-36744000	Weak transcription	Brain Anterior Caudate	brain
10	chr5:36740400-36743800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:36740600-36744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:36740600-36744000	Weak transcription	Osteobl	bone
13	chr5:36740800-36743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:36740800-36744000	Weak transcription	Right Atrium	heart
15	chr5:36740800-36744200	Weak transcription	NH-A	brain
16	chr5:36741000-36743800	Weak transcription	Small Intestine	intestine
17	chr5:36741000-36744000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:36741000-36744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:36741000-36744200	Weak transcription	HSMM	muscle
20	chr5:36741200-36744000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:36741400-36743200	Weak transcription	Fetal Intestine Large	intestine
22	chr5:36741400-36743800	Weak transcription	K562	blood
23	chr5:36741400-36744000	Weak transcription	HSMMtube	muscle
24	chr5:36741400-36744200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:36741600-36743600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:36741800-36743000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:36741800-36743800	Weak transcription	Pancreas	Pancrea
28	chr5:36741800-36744000	Weak transcription	Gastric	stomach
29	chr5:36742000-36743000	Weak transcription	Fetal Kidney	kidney
30	chr5:36742200-36743800	Weak transcription	Stomach Mucosa	stomach

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