Variant report

Variant	rs35223676
Chromosome Location	chr12:104496724-104496725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104492807..104495582-chr12:104496418..104499208,2	K562	blood:
2	chr12:104490638..104494307-chr12:104496418..104499192,3	K562	blood:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10861157	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111888	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11111892	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111900	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580532	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580691	0.99[ASN][1000 genomes]
rs1485591	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272477	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011860	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34071758	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35879815	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763999	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964531	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539123	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7133289	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958015	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7979123	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104496800	Weak transcription	HepG2	liver
2	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
3	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
4	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
8	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
11	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
13	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:104480600-104497600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
16	chr12:104481000-104500800	Weak transcription	K562	blood
17	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:104485000-104500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:104486200-104503000	Weak transcription	Small Intestine	intestine
20	chr12:104487000-104497200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104487000-104497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:104487200-104497000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:104487200-104497200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:104487200-104497200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104487200-104497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:104487200-104497600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:104487200-104499800	Strong transcription	HSMM	muscle
28	chr12:104487400-104498400	Strong transcription	NHDF-Ad	bronchial
29	chr12:104487600-104497000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:104487600-104497000	Strong transcription	Left Ventricle	heart
31	chr12:104489200-104502600	Weak transcription	Psoas Muscle	Psoas
32	chr12:104490000-104497200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:104490000-104499000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:104490600-104497600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:104490600-104497800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:104490800-104497000	Strong transcription	Brain Hippocampus Middle	brain
37	chr12:104491000-104508600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:104491800-104497000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:104491800-104497000	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:104492000-104499200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:104492000-104512400	Weak transcription	HMEC	breast
42	chr12:104492400-104497800	Strong transcription	Liver	Liver
43	chr12:104492800-104497000	Strong transcription	Ovary	ovary
44	chr12:104493000-104497000	Strong transcription	Fetal Thymus	thymus
45	chr12:104493200-104498000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:104493200-104502200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:104493200-104512400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:104493200-104514400	Weak transcription	NHEK	skin
49	chr12:104493400-104498200	Weak transcription	Primary B cells from cord blood	blood
50	chr12:104493400-104500800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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