Variant report

Variant	rs10454623
Chromosome Location	chr13:49552857-49552858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49551617..49554201-chr13:49560922..49563747,2	MCF-7	breast:
2	chr13:49552747..49554579-chr13:49576987..49579021,2	K562	blood:

Variant related genes	Relation type
ENSG00000201662	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs9591231	0.89[AFR][1000 genomes]
rs9591233	0.89[AFR][1000 genomes]
rs9596050	1.00[AFR][1000 genomes]
rs9596052	1.00[AFR][1000 genomes]
rs9596055	0.89[AFR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034	chr13:49526761-49572727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
6	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49548800-49553000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:49548800-49554800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr13:49548800-49555800	Active TSS	Right Ventricle	heart
4	chr13:49549000-49553200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:49549000-49553800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:49549000-49554200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:49549200-49553200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:49549200-49553400	Active TSS	Brain Anterior Caudate	brain
9	chr13:49549600-49553200	Active TSS	K562	blood
10	chr13:49549800-49554400	Active TSS	Placenta	Placenta
11	chr13:49549800-49555000	Active TSS	Hela-S3	cervix
12	chr13:49549800-49555600	Active TSS	GM12878-XiMat	blood
13	chr13:49551000-49554800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:49551200-49555000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr13:49551400-49553000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr13:49551400-49553200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr13:49551400-49553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:49551400-49553200	Weak transcription	Small Intestine	intestine
19	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
20	chr13:49551600-49553000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:49551600-49553200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:49551600-49554600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr13:49551600-49555600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:49551600-49557200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:49551800-49553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:49551800-49553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:49551800-49553200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:49551800-49553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:49551800-49553200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:49551800-49553400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:49551800-49553800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr13:49551800-49553800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr13:49551800-49554000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:49551800-49554400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr13:49551800-49557000	Weak transcription	Stomach Mucosa	stomach
36	chr13:49551800-49557200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr13:49551800-49569400	Weak transcription	Psoas Muscle	Psoas
38	chr13:49552000-49553600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr13:49552000-49553800	Enhancers	Fetal Heart	heart
40	chr13:49552000-49555400	Enhancers	Primary B cells from peripheral blood	blood
41	chr13:49552200-49553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:49552200-49553200	Weak transcription	Aorta	Aorta
43	chr13:49552200-49553200	Weak transcription	Left Ventricle	heart
44	chr13:49552200-49553200	Weak transcription	Ovary	ovary
45	chr13:49552200-49553200	Enhancers	Rectal Smooth Muscle	rectum
46	chr13:49552200-49553600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr13:49552200-49553600	Weak transcription	Adipose Nuclei	Adipose
48	chr13:49552200-49553800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:49552200-49553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:49552200-49554000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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