Variant report

Variant	rs11569281
Chromosome Location	chr3:141672600-141672601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141632396..141635066-chr3:141671620..141673912,2	K562	blood:
2	chr3:141665440..141667563-chr3:141670858..141673454,2	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction
ENSG00000269905	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10935446	0.94[EUR][1000 genomes]
rs10935447	0.94[EUR][1000 genomes]
rs11569259	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569262	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11569291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707100	0.93[EUR][1000 genomes]
rs11711748	0.94[EUR][1000 genomes]
rs11713023	0.94[EUR][1000 genomes]
rs11844	0.85[EUR][1000 genomes]
rs12487977	0.85[EUR][1000 genomes]
rs12487983	0.85[EUR][1000 genomes]
rs12490893	0.81[EUR][1000 genomes]
rs12494971	0.94[EUR][1000 genomes]
rs12497112	0.94[EUR][1000 genomes]
rs12497443	0.85[EUR][1000 genomes]
rs2288634	0.85[EUR][1000 genomes]
rs2288635	0.85[EUR][1000 genomes]
rs2288636	0.85[EUR][1000 genomes]
rs3762726	0.94[EUR][1000 genomes]
rs3804772	0.85[EUR][1000 genomes]
rs3828398	0.83[EUR][1000 genomes]
rs4683412	0.91[EUR][1000 genomes]
rs4683413	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683414	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683649	0.85[EUR][1000 genomes]
rs4683652	0.85[EUR][1000 genomes]
rs745966	0.93[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11569281	TFDP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
4	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
5	chr3:141643000-141675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:141644800-141678400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:141659200-141696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:141659400-141673800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:141659400-141678400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:141659600-141674000	Weak transcription	NHLF	lung
11	chr3:141659600-141676000	Weak transcription	Fetal Heart	heart
12	chr3:141659600-141676400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:141659600-141678200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:141659600-141678200	Weak transcription	NHDF-Ad	bronchial
15	chr3:141659600-141678400	Weak transcription	A549	lung
16	chr3:141660000-141673800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:141660000-141674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:141660600-141698200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:141663400-141674000	Weak transcription	Ovary	ovary
20	chr3:141664200-141672600	Strong transcription	Thymus	Thymus
21	chr3:141664600-141674200	Weak transcription	Esophagus	oesophagus
22	chr3:141665200-141674000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:141666000-141697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:141666400-141687200	Strong transcription	Dnd41	blood
25	chr3:141667000-141685600	Weak transcription	Brain Substantia Nigra	brain
26	chr3:141668000-141686600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:141668600-141678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:141668600-141688600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:141668800-141674000	Strong transcription	Fetal Thymus	thymus
30	chr3:141669600-141696800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:141670000-141683600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:141670000-141684000	Weak transcription	Colonic Mucosa	Colon
33	chr3:141670200-141673200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:141670200-141681200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:141670400-141674000	Weak transcription	Fetal Brain Male	brain
36	chr3:141670600-141674400	Strong transcription	Fetal Intestine Large	intestine
37	chr3:141670600-141676200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:141670600-141676600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:141671000-141673000	Strong transcription	Fetal Intestine Small	intestine
40	chr3:141671000-141673600	Weak transcription	HSMM	muscle
41	chr3:141671200-141673800	Weak transcription	Fetal Brain Female	brain
42	chr3:141671400-141676800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:141671600-141673600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:141671600-141674000	Weak transcription	Right Atrium	heart
45	chr3:141671600-141677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:141671600-141677400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:141671600-141677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:141671600-141697400	Weak transcription	Gastric	stomach
49	chr3:141671800-141673200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:141671800-141673800	Weak transcription	Fetal Kidney	kidney

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