Variant report

Variant	rs16872269
Chromosome Location	chr5:74077474-74077475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74072325..74074602-chr5:74076186..74079025,2	K562	blood:
2	chr5:73981324..73983563-chr5:74077397..74079724,2	K562	blood:
3	chr5:74062073..74064264-chr5:74075960..74077851,2	K562	blood:

Variant related genes	Relation type
ENSG00000164347	Chromatin interaction
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10515190	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872340	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872352	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1979014	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2100032	1.00[EUR][1000 genomes]
rs2100034	1.00[EUR][1000 genomes]
rs35080306	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3968877	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs62366406	0.91[AFR][1000 genomes]
rs6453081	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116712	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73116717	0.90[AFR][1000 genomes]
rs73116725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116733	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16872269	FAM169A	cis	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74064200-74086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:74064400-74079600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:74064400-74086600	Weak transcription	Fetal Heart	heart
6	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
7	chr5:74064600-74079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:74064600-74079600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:74064800-74079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:74064800-74079600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:74064800-74080000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr5:74064800-74080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:74065000-74077800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:74065000-74079600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:74065000-74081800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:74065400-74077800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:74066600-74112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:74069000-74079400	Strong transcription	HepG2	liver
20	chr5:74069000-74153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:74069600-74102600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:74069800-74086400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:74069800-74097000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:74070000-74086200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:74070000-74095000	Weak transcription	Fetal Kidney	kidney
26	chr5:74070000-74097000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:74070000-74111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:74070400-74082600	Weak transcription	Brain Substantia Nigra	brain
29	chr5:74071000-74086200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:74071400-74078200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:74071400-74078800	Weak transcription	Right Ventricle	heart
32	chr5:74071400-74085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:74071400-74086400	Weak transcription	Aorta	Aorta
34	chr5:74071400-74095200	Weak transcription	Spleen	Spleen
35	chr5:74071600-74079400	Strong transcription	Dnd41	blood
36	chr5:74071800-74077600	Weak transcription	NHLF	lung
37	chr5:74072000-74077600	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:74072200-74077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:74072400-74079400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:74072400-74082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:74072400-74083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:74072400-74083400	Weak transcription	Fetal Brain Female	brain
43	chr5:74072400-74085800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:74072400-74085800	Weak transcription	Ovary	ovary
45	chr5:74072400-74086000	Weak transcription	Fetal Stomach	stomach
46	chr5:74072400-74086000	Weak transcription	Thymus	Thymus
47	chr5:74072400-74086400	Weak transcription	Fetal Intestine Small	intestine
48	chr5:74072400-74095600	Weak transcription	Left Ventricle	heart
49	chr5:74072600-74077600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:74072600-74082600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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