Variant report

Variant	rs17630746
Chromosome Location	chr14:81648560-81648561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81643515..81648900-chr14:81684307..81689030,7	K562	blood:
2	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
3	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
4	chr14:81647401..81650665-chr14:81685451..81688014,6	MCF-7	breast:
5	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131728	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878477	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879576	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880377	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880414	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880512	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs12883359	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883532	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889291	1.00[CHB][hapmap]
rs12891828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs12893436	1.00[ASN][1000 genomes]
rs12894001	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894318	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894596	1.00[CHB][hapmap]
rs12895215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs12895990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35446669	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592586	0.80[AMR][1000 genomes];0.97[EUR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
3	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
4	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
6	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:81637200-81652600	Weak transcription	NHEK	skin
10	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
11	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
13	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
15	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
16	chr14:81637400-81649800	Weak transcription	HepG2	liver
17	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
18	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
19	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:81637400-81656800	Weak transcription	HMEC	breast
25	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
26	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:81637600-81650000	Weak transcription	Hela-S3	cervix
28	chr14:81637600-81652400	Weak transcription	A549	lung
29	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
30	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
34	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:81643800-81649000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:81644000-81649000	Weak transcription	Aorta	Aorta
39	chr14:81644000-81655400	Strong transcription	Dnd41	blood
40	chr14:81644200-81648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:81644200-81648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:81644200-81649000	Weak transcription	NHLF	lung
43	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:81644400-81648600	Weak transcription	Ovary	ovary
46	chr14:81644400-81648600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:81644400-81648600	Weak transcription	NHDF-Ad	bronchial
48	chr14:81644400-81648800	Weak transcription	Brain Substantia Nigra	brain
49	chr14:81644400-81649000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:81644400-81652400	Weak transcription	Rectal Smooth Muscle	rectum

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