Variant report

Variant	rs56060232
Chromosome Location	chr14:104386165-104386166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104194524..104196710-chr14:104385033..104387734,2	MCF-7	breast:
2	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104386060..104387762-chr14:104425498..104427108,2	MCF-7	breast:
5	chr14:104377732..104380642-chr14:104385063..104387533,2	K562	blood:
6	chr14:104384353..104387196-chr14:104404625..104406851,3	MCF-7	breast:
7	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
8	chr14:104383824..104386788-chr14:104411318..104413343,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100711	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000156414	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10136440	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10149651	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1187446	0.85[AMR][1000 genomes]
rs1187448	0.83[AMR][1000 genomes]
rs12895359	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895592	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17101911	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1885072	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236246	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236247	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2269186	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273610	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2368984	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59776579	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576012	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7143682	0.85[AMR][1000 genomes]
rs743212	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8021692	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56060232	TDRD9	cis	lung	GTEx
rs56060232	TDRD9	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
5	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
6	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:104378000-104387200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:104378600-104387000	Weak transcription	NHDF-Ad	bronchial
9	chr14:104380200-104387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:104380600-104386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:104380600-104387000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:104380600-104387000	Weak transcription	HUVEC	blood vessel
13	chr14:104380800-104386800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:104381400-104386800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:104381600-104386800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:104382600-104386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:104382600-104387000	Weak transcription	HSMMtube	muscle
18	chr14:104382800-104387000	Weak transcription	Osteobl	bone
19	chr14:104383000-104386600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:104383400-104387000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:104384200-104387000	Enhancers	Pancreas	Pancrea
22	chr14:104384200-104387000	Weak transcription	NH-A	brain
23	chr14:104384400-104386200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:104384400-104386800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:104384600-104386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:104384600-104386400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:104384600-104386600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:104384600-104386600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:104384600-104386600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:104384600-104386800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:104384600-104386800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:104384600-104386800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:104384600-104386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:104384600-104386800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:104384600-104386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:104384600-104386800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:104384600-104386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:104384600-104386800	Weak transcription	Primary T cells from cord blood	blood
39	chr14:104384600-104386800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:104384600-104386800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:104384600-104386800	Weak transcription	Brain Substantia Nigra	brain
42	chr14:104384600-104386800	Weak transcription	Fetal Intestine Large	intestine
43	chr14:104384600-104386800	Weak transcription	Fetal Lung	lung
44	chr14:104384600-104386800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:104384600-104386800	Weak transcription	A549	lung
46	chr14:104384600-104386800	Weak transcription	HSMM	muscle
47	chr14:104384600-104386800	Weak transcription	NHEK	skin
48	chr14:104384600-104387000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:104384600-104387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:104384600-104387000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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