Variant report

Variant	rs17180385
Chromosome Location	chr14:65251451-65251452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65250375..65252086-chr14:65255128..65257379,2	K562	blood:
2	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12433757	0.87[CEU][hapmap]
rs12435626	0.85[CEU][hapmap]
rs12436545	0.88[CEU][hapmap]
rs1499517	0.85[ASN][1000 genomes]
rs17102190	0.88[CEU][hapmap]
rs17180532	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17767673	0.85[ASN][1000 genomes]
rs1957416	1.00[CEU][hapmap]
rs2273475	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2285003	0.85[CEU][hapmap]
rs229576	1.00[JPT][hapmap]
rs229669	1.00[CEU][hapmap]
rs230698	0.85[CEU][hapmap]
rs230700	0.85[CEU][hapmap]
rs230701	0.88[CEU][hapmap]
rs230715	1.00[CEU][hapmap]
rs230718	1.00[CEU][hapmap]
rs230723	1.00[CEU][hapmap]
rs3819918	0.85[CEU][hapmap]
rs59914095	0.85[ASN][1000 genomes]
rs60545775	0.85[ASN][1000 genomes]
rs6573571	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7144515	1.00[CEU][hapmap]
rs747860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8004506	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65232200-65274200	Weak transcription	Gastric	stomach
4	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
5	chr14:65240400-65262800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:65242000-65251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:65242400-65252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:65245200-65257600	Weak transcription	HSMMtube	muscle
10	chr14:65246400-65253200	Weak transcription	Spleen	Spleen
11	chr14:65246800-65252400	Weak transcription	Psoas Muscle	Psoas
12	chr14:65249000-65253000	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:65249400-65253200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:65250000-65252200	Strong transcription	Fetal Brain Female	brain
15	chr14:65250400-65252800	Strong transcription	Left Ventricle	heart
16	chr14:65250400-65253200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:65251000-65251600	Strong transcription	Fetal Heart	heart
19	chr14:65251000-65251800	Strong transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:65251000-65253000	Strong transcription	K562	blood
21	chr14:65251000-65261000	Weak transcription	Brain Angular Gyrus	brain
22	chr14:65251200-65260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
24	chr14:65251400-65254200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:65251400-65254600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:65251400-65257200	Weak transcription	Right Ventricle	heart
27	chr14:65251400-65257400	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65251400-65259600	Weak transcription	Brain Anterior Caudate	brain

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