Variant report

Variant	rs73621198
Chromosome Location	chr13:111563216-111563217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr13:111562965-111563306	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
2	chr13:111544583..111547325-chr13:111560842..111564367,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD10	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11841264	0.87[AFR][1000 genomes]
rs73621183	1.00[AFR][1000 genomes]
rs73623064	0.87[AFR][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	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111540800-111564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:111542800-111564200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111544600-111563400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr13:111546200-111564200	Weak transcription	Colonic Mucosa	Colon
5	chr13:111547800-111564400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:111554200-111563400	Strong transcription	Primary B cells from cord blood	blood
7	chr13:111558800-111563400	Genic enhancers	Fetal Lung	lung
8	chr13:111558800-111564800	Enhancers	Fetal Heart	heart
9	chr13:111559200-111564000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr13:111559200-111564400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:111559400-111564000	Weak transcription	Esophagus	oesophagus
12	chr13:111559400-111564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:111559800-111563400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr13:111560200-111563400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
15	chr13:111560400-111564200	Weak transcription	Brain Anterior Caudate	brain
16	chr13:111560800-111563400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr13:111561000-111564200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr13:111561200-111563400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:111561200-111563400	Enhancers	Small Intestine	intestine
20	chr13:111561200-111564000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:111561400-111563400	Genic enhancers	HSMM	muscle
22	chr13:111561400-111564000	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:111561400-111564400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:111561800-111563600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:111561800-111564000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:111561800-111564200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:111561800-111564600	Genic enhancers	A549	lung
28	chr13:111561800-111565000	Enhancers	Ovary	ovary
29	chr13:111562000-111563400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr13:111562000-111564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:111562000-111564400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:111562000-111564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:111562200-111564000	Weak transcription	Stomach Mucosa	stomach
34	chr13:111562200-111564400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:111562400-111563800	Weak transcription	Right Ventricle	heart
36	chr13:111562600-111563400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
37	chr13:111562600-111564000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:111562600-111564400	Weak transcription	Fetal Kidney	kidney
39	chr13:111562600-111564600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:111562600-111564600	Enhancers	Adipose Nuclei	Adipose
41	chr13:111562800-111563400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr13:111562800-111563800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111562800-111563800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr13:111562800-111564000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:111562800-111564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:111562800-111564000	Strong transcription	Fetal Intestine Small	intestine
47	chr13:111562800-111564000	Strong transcription	Fetal Stomach	stomach
48	chr13:111562800-111564400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:111562800-111564400	Weak transcription	HUVEC	blood vessel
50	chr13:111562800-111564600	Enhancers	Brain Germinal Matrix	brain

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