Variant report

Variant	rs55777819
Chromosome Location	chr13:50210662-50210663
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50207967..50212000-chr13:50212488..50215726,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EBPL-1	chr13:50210642-50211254	XLOC_010610

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12431249	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407795	0.88[EUR][1000 genomes]
rs4942856	0.88[EUR][1000 genomes]
rs55702040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336812	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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 target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50203200-50212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:50205200-50215400	Weak transcription	Esophagus	oesophagus
4	chr13:50205800-50210800	Enhancers	Fetal Heart	heart
5	chr13:50206000-50211200	Genic enhancers	Primary B cells from cord blood	blood
6	chr13:50208800-50215000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:50209000-50211200	Enhancers	Lung	lung
8	chr13:50209200-50210800	Enhancers	HepG2	liver
9	chr13:50209400-50210800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:50209400-50211000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:50209600-50210800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr13:50209800-50210800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr13:50209800-50210800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr13:50209800-50210800	Active TSS	Rectal Smooth Muscle	rectum
15	chr13:50210000-50210800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:50210000-50210800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:50210000-50210800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr13:50210000-50211000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:50210200-50210800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr13:50210200-50210800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr13:50210200-50210800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr13:50210200-50210800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:50210200-50210800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr13:50210200-50211200	Enhancers	K562	blood
25	chr13:50210400-50210800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr13:50210400-50210800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr13:50210400-50210800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:50210400-50210800	Enhancers	Liver	Liver
29	chr13:50210400-50210800	Enhancers	Fetal Muscle Trunk	muscle
30	chr13:50210400-50210800	Enhancers	Fetal Muscle Leg	muscle
31	chr13:50210400-50210800	Enhancers	Left Ventricle	heart
32	chr13:50210400-50210800	Enhancers	Right Atrium	heart
33	chr13:50210400-50210800	Genic enhancers	Spleen	Spleen
34	chr13:50210400-50211000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
35	chr13:50210400-50212200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:50210400-50219600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:50210400-50219600	Weak transcription	Fetal Thymus	thymus
38	chr13:50210400-50219800	Weak transcription	Primary T cells from cord blood	blood
39	chr13:50210400-50224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr13:50210600-50210800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr13:50210600-50210800	Enhancers	Primary B cells from peripheral blood	blood
42	chr13:50210600-50210800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:50210600-50210800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr13:50210600-50210800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:50210600-50210800	Enhancers	Small Intestine	intestine
46	chr13:50210600-50210800	Enhancers	Stomach Smooth Muscle	stomach
47	chr13:50210600-50211200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr13:50210600-50211200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr13:50210600-50211400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr13:50210600-50215600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links