Variant report

Variant	rs16919591
Chromosome Location	chr8:54752208-54752209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54748659..54752308-chr8:54753286..54756528,7	K562	blood:
2	chr8:54749963..54753631-chr8:54753914..54756219,5	MCF-7	breast:
3	chr8:54743278..54745985-chr8:54748911..54752561,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCEA1-2	chr8:54752185-54752398	NONHSAT126609

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16919511	0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs16919528	1.00[AMR][1000 genomes]
rs16919544	1.00[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54687600-54753600	Weak transcription	A549	lung
2	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
5	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:54732600-54752800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:54735200-54752800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:54735200-54753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:54735800-54753600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:54736200-54752800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:54737600-54752800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:54737800-54752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:54738200-54752600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:54738600-54753000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:54738600-54753800	Strong transcription	Fetal Thymus	thymus
16	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54739200-54752800	Strong transcription	Fetal Intestine Large	intestine
19	chr8:54741200-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:54741600-54753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:54741600-54753800	Weak transcription	Right Ventricle	heart
22	chr8:54741800-54753400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:54741800-54754800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:54742000-54753400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:54742000-54753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54742000-54753800	Weak transcription	Colonic Mucosa	Colon
27	chr8:54743200-54753600	Strong transcription	Primary B cells from cord blood	blood
28	chr8:54743800-54753400	Weak transcription	HUVEC	blood vessel
29	chr8:54744000-54753200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:54744000-54753400	Weak transcription	Fetal Kidney	kidney
31	chr8:54744200-54753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:54744200-54753600	Weak transcription	Fetal Brain Male	brain
33	chr8:54744200-54753600	Weak transcription	NHLF	lung
34	chr8:54744200-54754800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:54745200-54753200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:54745600-54753200	Strong transcription	Thymus	Thymus
37	chr8:54745600-54753800	Strong transcription	Fetal Stomach	stomach
38	chr8:54745600-54754000	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:54746000-54753600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:54746200-54752600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:54746400-54752400	Weak transcription	Psoas Muscle	Psoas
42	chr8:54746400-54752400	Weak transcription	Spleen	Spleen
43	chr8:54746400-54753400	Weak transcription	HSMM	muscle
44	chr8:54746400-54753600	Weak transcription	K562	blood
45	chr8:54746400-54753600	Weak transcription	Osteobl	bone
46	chr8:54746400-54753800	Weak transcription	Right Atrium	heart
47	chr8:54746400-54753800	Weak transcription	HSMMtube	muscle
48	chr8:54746800-54753600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:54747000-54753000	Strong transcription	Fetal Intestine Small	intestine
50	chr8:54748600-54753600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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