Variant report

Variant	rs10783234
Chromosome Location	chr12:48592497-48592498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48549910..48551454-chr12:48590661..48592818,2	K562	blood:
2	chr12:48549661..48552655-chr12:48590661..48593368,4	K562	blood:
3	chr12:48590039..48593666-chr12:48742360..48744824,3	K562	blood:
4	chr12:48510785..48513717-chr12:48592045..48593630,2	K562	blood:
5	chr12:48576960..48580173-chr12:48592129..48594089,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177981	Chromatin interaction
ENSG00000257735	Chromatin interaction
ENSG00000152556	Chromatin interaction
ENSG00000177875	Chromatin interaction
ENSG00000167528	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1021313	0.84[ASN][1000 genomes]
rs10437919	0.84[ASN][1000 genomes]
rs10437920	0.84[ASN][1000 genomes]
rs10467101	0.85[ASN][1000 genomes]
rs10875756	0.83[ASN][1000 genomes]
rs10875762	0.91[ASN][1000 genomes]
rs10875764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875767	0.87[ASN][1000 genomes]
rs10875768	0.85[ASN][1000 genomes]
rs10875769	0.89[ASN][1000 genomes]
rs10875770	0.87[ASN][1000 genomes]
rs10875772	0.85[ASN][1000 genomes]
rs10875777	0.84[ASN][1000 genomes]
rs10875778	0.84[ASN][1000 genomes]
rs10875779	0.84[ASN][1000 genomes]
rs10875782	0.81[ASN][1000 genomes]
rs11168433	0.83[ASN][1000 genomes]
rs11168450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168459	0.87[ASN][1000 genomes]
rs11168483	0.81[ASN][1000 genomes]
rs11168487	0.84[ASN][1000 genomes]
rs11558768	0.90[ASN][1000 genomes]
rs12300647	0.81[ASN][1000 genomes]
rs12305511	0.93[ASN][1000 genomes]
rs12305647	0.93[ASN][1000 genomes]
rs12312134	0.83[ASN][1000 genomes]
rs12317751	0.84[ASN][1000 genomes]
rs12318705	0.81[ASN][1000 genomes]
rs17122812	0.87[ASN][1000 genomes]
rs2012773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171642	0.81[ASN][1000 genomes]
rs2898065	0.83[ASN][1000 genomes]
rs4760622	0.93[ASN][1000 genomes]
rs4760689	0.83[ASN][1000 genomes]
rs4760690	0.83[ASN][1000 genomes]
rs4760695	0.93[ASN][1000 genomes]
rs4760696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760697	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760699	0.86[ASN][1000 genomes]
rs61940962	0.87[ASN][1000 genomes]
rs61941003	0.84[ASN][1000 genomes]
rs61941006	0.84[ASN][1000 genomes]
rs6580659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs716553	0.84[ASN][1000 genomes]
rs7302466	0.81[ASN][1000 genomes]
rs7303055	0.84[ASN][1000 genomes]
rs7486008	0.84[ASN][1000 genomes]
rs7975956	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10783234	ZNF641	cis	Whole Blood	GTEx
rs10783234	ZNF641	cis	Muscle Skeletal	GTEx
rs10783234	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48590800-48592600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48590800-48593000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:48591000-48592600	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:48591000-48592800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:48591000-48593000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:48591000-48593000	Active TSS	Duodenum Mucosa	Duodenum
7	chr12:48591000-48593200	Active TSS	Right Ventricle	heart
8	chr12:48591200-48592600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:48591200-48592600	Active TSS	Aorta	Aorta
10	chr12:48591200-48592600	Active TSS	Fetal Lung	lung
11	chr12:48591200-48592800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr12:48591200-48592800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:48591200-48592800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:48591200-48592800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr12:48591200-48592800	Active TSS	Psoas Muscle	Psoas
16	chr12:48591200-48592800	Active TSS	Hela-S3	cervix
17	chr12:48591200-48593000	Active TSS	Colon Smooth Muscle	Colon
18	chr12:48591200-48593000	Flanking Active TSS	Osteobl	bone
19	chr12:48591200-48593200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:48591200-48593200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr12:48591200-48593200	Active TSS	Left Ventricle	heart
22	chr12:48591200-48593200	Active TSS	NHDF-Ad	bronchial
23	chr12:48591200-48593400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:48591200-48594200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:48591400-48592600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:48591400-48592600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:48591400-48592600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:48591400-48592600	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:48591400-48592600	Active TSS	Liver	Liver
30	chr12:48591400-48592600	Active TSS	Fetal Heart	heart
31	chr12:48591400-48592600	Active TSS	Fetal Intestine Small	intestine
32	chr12:48591400-48592600	Active TSS	Lung	lung
33	chr12:48591400-48592600	Active TSS	Pancreas	Pancrea
34	chr12:48591400-48592800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr12:48591400-48592800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:48591400-48592800	Active TSS	Ovary	ovary
37	chr12:48591400-48592800	Active TSS	A549	lung
38	chr12:48591400-48592800	Active TSS	HSMM	muscle
39	chr12:48591400-48592800	Active TSS	HSMMtube	muscle
40	chr12:48591400-48593000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:48591400-48593000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:48591400-48593000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:48591400-48593000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:48591400-48593000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:48591400-48593000	Active TSS	Brain Germinal Matrix	brain
46	chr12:48591400-48593000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:48591400-48593000	Active TSS	Esophagus	oesophagus
48	chr12:48591400-48593000	Active TSS	Fetal Brain Female	brain
49	chr12:48591400-48593200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:48591400-48593200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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