Variant report

Variant	rs61112030
Chromosome Location	chr13:52337449-52337450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52337340..52339624-chr13:52341106..52343794,2	K562	blood:
2	chr13:52336715..52338820-chr13:52345525..52347839,2	MCF-7	breast:
3	chr13:52337387..52338953-chr13:52340888..52343879,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs732854	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
3	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:52322600-52338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:52322600-52338200	Weak transcription	Stomach Mucosa	stomach
6	chr13:52322600-52342200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:52322600-52342200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr13:52322800-52337600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:52322800-52338200	Weak transcription	HUVEC	blood vessel
10	chr13:52323000-52343400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr13:52323200-52337600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:52323200-52338200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:52323200-52341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:52324800-52337600	Strong transcription	Liver	Liver
15	chr13:52324800-52338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:52324800-52342600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:52325400-52337800	Strong transcription	Thymus	Thymus
18	chr13:52325400-52338200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr13:52325600-52337600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:52326000-52342600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:52327600-52343200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:52327800-52337600	Strong transcription	NHEK	skin
23	chr13:52327800-52343000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:52329600-52338200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr13:52330400-52341800	Weak transcription	Hela-S3	cervix
26	chr13:52330600-52338200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:52330600-52339000	Weak transcription	Colon Smooth Muscle	Colon
28	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:52330800-52338200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:52332600-52338400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr13:52332600-52342800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr13:52332800-52338200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:52333000-52338200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:52333000-52342600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:52333000-52343600	Weak transcription	Psoas Muscle	Psoas
36	chr13:52333200-52338200	Weak transcription	Gastric	stomach
37	chr13:52333200-52342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:52333600-52338200	Weak transcription	Left Ventricle	heart
39	chr13:52334400-52338200	Weak transcription	Fetal Intestine Large	intestine
40	chr13:52334400-52343800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:52334600-52338600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:52334600-52339400	Strong transcription	Esophagus	oesophagus
43	chr13:52334800-52337800	Weak transcription	A549	lung
44	chr13:52334800-52338000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:52335000-52337600	Strong transcription	HSMMtube	muscle
46	chr13:52335000-52338200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:52335000-52338200	Weak transcription	Fetal Lung	lung
48	chr13:52335000-52338200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr13:52335000-52338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:52335000-52343200	Weak transcription	Ovary	ovary

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