Variant report

Variant	rs6581093
Chromosome Location	chr12:56824788-56824789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56824331..56826996-chr12:56831647..56834552,3	K562	blood:
2	chr12:56823780..56826763-chr12:56843201..56845054,2	MCF-7	breast:
3	chr12:56822652..56825440-chr12:56826131..56828789,2	MCF-7	breast:
4	chr12:56752705..56755590-chr12:56824655..56827546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10876885	1.00[EUR][1000 genomes]
rs11171818	1.00[EUR][1000 genomes]
rs11171819	1.00[EUR][1000 genomes]
rs11171822	1.00[EUR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11830379	1.00[EUR][1000 genomes]
rs11832580	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833064	1.00[EUR][1000 genomes]
rs11834948	1.00[EUR][1000 genomes]
rs12306512	1.00[EUR][1000 genomes]
rs12318887	1.00[EUR][1000 genomes]
rs12322356	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs17118590	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs55666835	0.84[AFR][1000 genomes]
rs57387549	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	1.00[EUR][1000 genomes]
rs61733875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72478990	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73324353	1.00[EUR][1000 genomes]
rs73324358	1.00[EUR][1000 genomes]
rs74094726	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7954200	1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[EUR][1000 genomes]
rs7979812	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6581093	RPS26	cis	lymphoblastoid	seeQTL
rs6581093	CNPY2	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56805000-56826000	Weak transcription	Right Ventricle	heart
3	chr12:56805800-56828200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:56807200-56825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:56809200-56828000	Strong transcription	Fetal Thymus	thymus
17	chr12:56809200-56828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:56809600-56828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:56809800-56827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:56809800-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:56809800-56827800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:56809800-56827800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:56809800-56829000	Strong transcription	Dnd41	blood
24	chr12:56810000-56826000	Weak transcription	NHDF-Ad	bronchial
25	chr12:56810000-56828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:56810000-56828800	Weak transcription	Small Intestine	intestine
27	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:56810200-56828000	Strong transcription	A549	lung
29	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
30	chr12:56810600-56825000	Strong transcription	Fetal Intestine Large	intestine
31	chr12:56810800-56826000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:56811400-56828200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:56811800-56830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:56813000-56825000	Strong transcription	K562	blood
36	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
37	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
38	chr12:56813600-56827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
40	chr12:56814000-56827800	Strong transcription	NHEK	skin
41	chr12:56814000-56828000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:56814200-56825000	Strong transcription	Primary B cells from cord blood	blood
43	chr12:56816000-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:56816000-56826000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:56816600-56836400	Weak transcription	HMEC	breast
47	chr12:56816800-56828600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:56817400-56826400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:56817400-56828000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:56817400-56829000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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