Variant report

Variant	rs12749203
Chromosome Location	chr1:186284545-186284546
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	POLR2A	chr1:186284516-186285184	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186284087..186286395-chr1:186331710..186334159,2	K562	blood:
2	chr1:186283967..186285727-chr1:186300715..186302293,2	K562	blood:
3	chr1:186278520..186282501-chr1:186283782..186287255,4	K562	blood:

Variant related genes	Relation type
RNU6-1240P	TF binding region
ENSG00000202025	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11799811	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11799843	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11805289	0.82[AMR][1000 genomes]
rs11805302	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11806068	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11806304	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11809402	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11811320	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12728791	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12733799	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739797	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12740221	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12742751	0.82[AMR][1000 genomes]
rs1919194	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273774	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293569	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293570	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34467087	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34552348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924250	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35131069	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35146131	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942197	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3766698	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3766701	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817586	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57716405	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71634159	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186273200-186286200	Weak transcription	Pancreas	Pancrea
3	chr1:186273200-186290000	Weak transcription	Gastric	stomach
4	chr1:186275000-186284800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:186275000-186286200	Weak transcription	Psoas Muscle	Psoas
6	chr1:186276800-186284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:186276800-186285800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
11	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:186278600-186292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186279400-186295800	Strong transcription	A549	lung
15	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
16	chr1:186279600-186284800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:186279600-186292200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:186280000-186285600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:186280000-186340400	Strong transcription	Dnd41	blood
24	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:186280000-186342400	Strong transcription	Osteobl	bone
28	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:186280000-186342600	Strong transcription	HSMM	muscle
30	chr1:186280200-186284600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:186280200-186295800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:186280200-186297200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
34	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:186280600-186288400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr1:186280600-186290000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:186280600-186290200	Weak transcription	Fetal Brain Male	brain
41	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:186281000-186288600	Strong transcription	Left Ventricle	heart
43	chr1:186281000-186341800	Strong transcription	Liver	Liver
44	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:186281200-186295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:186281200-186297400	Strong transcription	NHDF-Ad	bronchial
47	chr1:186281200-186297600	Strong transcription	Fetal Intestine Large	intestine
48	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
50	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum

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