Variant report

Variant	rs9555630
Chromosome Location	chr13:110396501-110396502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
2	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
3	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
4	chr13:110394415..110400589-chr13:110436285..110439325,5	K562	blood:
5	chr13:110228282..110229151-chr13:110395790..110396755,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1004409	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550041	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61962673	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913950	0.96[ASN][1000 genomes]
rs9515107	0.89[ASN][1000 genomes]
rs9559631	0.80[ASN][1000 genomes]
rs9559633	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9559636	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110390200-110396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:110390200-110396800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:110390800-110402200	Weak transcription	HSMM	muscle
4	chr13:110391200-110402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:110391200-110404400	Weak transcription	HSMMtube	muscle
6	chr13:110393200-110396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:110394400-110396800	Weak transcription	Lung	lung
8	chr13:110395200-110397200	Enhancers	Duodenum Mucosa	Duodenum
9	chr13:110395200-110397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:110395400-110396600	Enhancers	NHEK	skin
11	chr13:110395400-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:110395400-110397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:110395400-110397400	Enhancers	HMEC	breast
14	chr13:110395600-110396800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:110395600-110397600	Enhancers	Fetal Lung	lung
16	chr13:110395600-110397600	Enhancers	Placenta	Placenta
17	chr13:110395600-110397600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr13:110395600-110404000	Weak transcription	Liver	Liver
19	chr13:110395800-110396600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:110395800-110396800	Enhancers	HUVEC	blood vessel
21	chr13:110396000-110396600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:110396000-110396600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:110396000-110396600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:110396000-110396600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:110396000-110396800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:110396000-110396800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr13:110396000-110397000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:110396000-110397000	Enhancers	Fetal Thymus	thymus
29	chr13:110396000-110397200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:110396000-110397200	Enhancers	Fetal Stomach	stomach
31	chr13:110396000-110397200	Enhancers	NH-A	brain
32	chr13:110396000-110397600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:110396000-110398600	Enhancers	Fetal Heart	heart
34	chr13:110396200-110396600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:110396200-110396600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:110396200-110396600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr13:110396200-110396600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:110396200-110396600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:110396200-110396600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr13:110396200-110396600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr13:110396200-110396600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:110396200-110396600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr13:110396200-110396600	Enhancers	Colon Smooth Muscle	Colon
44	chr13:110396200-110396600	Enhancers	Fetal Kidney	kidney
45	chr13:110396200-110396600	Enhancers	Gastric	stomach
46	chr13:110396200-110396600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr13:110396200-110396600	Bivalent Enhancer	Small Intestine	intestine
48	chr13:110396200-110396600	Enhancers	Stomach Smooth Muscle	stomach
49	chr13:110396200-110396600	Flanking Active TSS	A549	lung
50	chr13:110396200-110396600	Flanking Active TSS	Hela-S3	cervix

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