Variant report

Variant	rs4971053
Chromosome Location	chr1:155408635-155408636
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	chr1:155406981..155408656-chr1:155410586..155413532,3	K562	blood:
2	chr1:155407176..155408712-chr1:155532541..155534378,2	K562	blood:

Variant related genes	Relation type
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11264378	0.80[AFR][1000 genomes]
rs4971081	0.81[AFR][1000 genomes]
rs6668947	0.99[AFR][1000 genomes]
rs7539746	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4971053	RUSC1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155362200-155433400	Weak transcription	Psoas Muscle	Psoas
2	chr1:155362800-155442400	Weak transcription	Right Ventricle	heart
3	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
4	chr1:155367400-155426000	Weak transcription	Stomach Mucosa	stomach
5	chr1:155384800-155425600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:155392800-155422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:155397000-155408800	Strong transcription	Fetal Stomach	stomach
8	chr1:155397400-155409000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:155397400-155410400	Strong transcription	Fetal Intestine Small	intestine
10	chr1:155397600-155409200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:155399000-155409000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:155399000-155409400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:155399400-155418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155399600-155409000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:155399800-155411000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:155400000-155410000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:155400600-155410000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:155402200-155409000	Strong transcription	Liver	Liver
19	chr1:155402400-155426800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:155402600-155409000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:155403400-155411800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:155403800-155410200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:155404600-155409600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:155404600-155441400	Weak transcription	Esophagus	oesophagus
25	chr1:155404800-155409400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:155404800-155409600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:155404800-155410200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:155405000-155409000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:155405000-155409000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:155405000-155409600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:155405000-155409600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:155405200-155409200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:155405200-155410000	Strong transcription	Placenta	Placenta
34	chr1:155405400-155409400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:155405400-155417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:155405600-155409400	Strong transcription	Primary T cells from cord blood	blood
37	chr1:155405600-155410000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:155405600-155410800	Strong transcription	Fetal Thymus	thymus
39	chr1:155406000-155409400	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:155406400-155408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:155406400-155408800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:155406400-155409000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:155406600-155408800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr1:155406600-155408800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:155406600-155408800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:155406600-155408800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:155406600-155408800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr1:155406600-155408800	Strong transcription	Fetal Lung	lung
49	chr1:155406600-155408800	Strong transcription	A549	lung
50	chr1:155406600-155408800	Strong transcription	HSMM	muscle

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