Variant report

Variant	rs56110448
Chromosome Location	chr3:17277928-17277929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17276830..17278604-chr3:17280473..17282499,2	K562	blood:
2	chr3:17276645..17279210-chr3:17280241..17281995,2	MCF-7	breast:
3	chr3:17277678..17280400-chr3:17284466..17286298,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11914903	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17043267	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv589841	chr3:17214070-17290465	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv876588	chr3:17214070-17314872	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv876589	chr3:17230884-17346355	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv876590	chr3:17230884-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2755406	chr3:17237396-17589896	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56110448	TBC1D5	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17221600-17295800	Weak transcription	HSMM	muscle
2	chr3:17244200-17280600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:17244600-17279400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:17244600-17280600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:17244600-17282000	Weak transcription	Gastric	stomach
6	chr3:17244600-17282800	Weak transcription	Pancreas	Pancrea
7	chr3:17244800-17280400	Weak transcription	Fetal Stomach	stomach
8	chr3:17245800-17281200	Weak transcription	Lung	lung
9	chr3:17250000-17330200	Weak transcription	Aorta	Aorta
10	chr3:17254800-17279600	Weak transcription	Ovary	ovary
11	chr3:17255000-17297000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:17255200-17278600	Weak transcription	Liver	Liver
13	chr3:17255200-17281000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:17255200-17363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:17262000-17278600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:17263200-17279200	Weak transcription	Left Ventricle	heart
17	chr3:17263200-17307200	Weak transcription	Fetal Intestine Small	intestine
18	chr3:17267200-17278800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:17269800-17278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:17271000-17279000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:17273600-17278600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:17273600-17278800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:17273600-17289600	Weak transcription	Fetal Intestine Large	intestine
24	chr3:17273600-17330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:17273800-17278800	Weak transcription	Adipose Nuclei	Adipose
26	chr3:17274400-17278400	Weak transcription	HepG2	liver
27	chr3:17275000-17279800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:17275000-17279800	Weak transcription	NHEK	skin
29	chr3:17275200-17278600	Weak transcription	Dnd41	blood
30	chr3:17275200-17279000	Weak transcription	Brain Germinal Matrix	brain
31	chr3:17275400-17278600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:17275400-17280000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:17275400-17288600	Weak transcription	GM12878-XiMat	blood
34	chr3:17276600-17278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:17276600-17278600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:17276600-17281800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:17276800-17278600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:17276800-17279800	Strong transcription	Primary B cells from cord blood	blood
39	chr3:17277000-17280800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:17277400-17279200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:17277400-17280800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:17277400-17298800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:17277600-17278600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:17277600-17280800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:17277600-17328600	Weak transcription	Primary T cells from cord blood	blood
46	chr3:17277800-17278600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:17277800-17278600	Weak transcription	Fetal Heart	heart
48	chr3:17277800-17280400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:17277800-17282200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:17277800-17297800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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