Variant report

Variant	rs912547
Chromosome Location	chr13:49885216-49885217
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	chr13:49874891..49877806-chr13:49883558..49885352,2	K562	blood:
2	chr13:49882177..49886130-chr13:50015699..50019370,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17072837	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17072857	1.00[EUR][1000 genomes]
rs17072868	1.00[EUR][1000 genomes]
rs1983806	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs2181906	0.82[ASN][1000 genomes]
rs3990408	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60882749	0.96[ASN][1000 genomes]
rs6561498	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs6561516	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs74074564	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7999767	0.89[JPT][hapmap]
rs912193	0.82[ASN][1000 genomes]
rs9535195	1.00[AFR][1000 genomes]
rs9535196	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3449183	chr13:49882551-49885849	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49875800-49887800	Weak transcription	Fetal Intestine Large	intestine
2	chr13:49875800-49887800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:49875800-49891000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:49876200-49895000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:49876400-49887800	Weak transcription	Colonic Mucosa	Colon
7	chr13:49876400-49887800	Weak transcription	Fetal Heart	heart
8	chr13:49876400-49887800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:49878200-49893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:49878200-49894800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:49878400-49888000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:49879000-49887800	Weak transcription	Spleen	Spleen
13	chr13:49880200-49885800	Weak transcription	Fetal Kidney	kidney
14	chr13:49880400-49894200	Weak transcription	Primary B cells from cord blood	blood
15	chr13:49880600-49888600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:49880600-49896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:49881800-49906800	Weak transcription	Fetal Brain Male	brain
18	chr13:49882600-49885600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:49882800-49887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:49882800-49887800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:49882800-49887800	Weak transcription	Aorta	Aorta
22	chr13:49882800-49887800	Weak transcription	Placenta	Placenta
23	chr13:49882800-49887800	Weak transcription	Right Atrium	heart
24	chr13:49882800-49887800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:49882800-49887800	Weak transcription	Stomach Mucosa	stomach
26	chr13:49883200-49887600	Weak transcription	NHDF-Ad	bronchial
27	chr13:49883200-49887800	Weak transcription	Liver	Liver
28	chr13:49883400-49887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:49883400-49887600	Weak transcription	HepG2	liver
30	chr13:49883400-49887600	Weak transcription	NHEK	skin
31	chr13:49883400-49887800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:49883400-49887800	Weak transcription	Left Ventricle	heart
33	chr13:49883600-49887600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:49883600-49887600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:49883600-49887600	Weak transcription	HMEC	breast
36	chr13:49883600-49887600	Weak transcription	HSMM	muscle
37	chr13:49883600-49887600	Weak transcription	HUVEC	blood vessel
38	chr13:49883600-49887600	Weak transcription	NH-A	brain
39	chr13:49883600-49887600	Weak transcription	Osteobl	bone
40	chr13:49883600-49887800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:49883600-49887800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:49883600-49887800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:49883600-49887800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr13:49883600-49887800	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:49883600-49887800	Weak transcription	Ovary	ovary
46	chr13:49883600-49887800	Weak transcription	Psoas Muscle	Psoas
47	chr13:49883600-49887800	Weak transcription	Right Ventricle	heart
48	chr13:49883600-49887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr13:49883600-49887800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:49883800-49887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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