Variant report

Variant	rs10743874
Chromosome Location	chr12:10377268-10377269
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	chr12:10372534-10377685	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:10374583-10377702	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:10375406-10377691	K562	blood:	n/a	n/a
4	POLR2A	chr12:10375668-10377520	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10364498..10366663-chr12:10376957..10378491,2	K562	blood:
2	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:

Variant related genes	Relation type
KLRD1	TF binding region
ENSG00000139112	Chromatin interaction
ENSG00000255958	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10734821	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743875	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10845099	0.89[AMR][1000 genomes]
rs11053709	0.85[EUR][1000 genomes]
rs2417580	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35567183	0.83[EUR][1000 genomes]
rs4254156	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4325390	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4764331	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs765790	0.83[EUR][1000 genomes]
rs7966224	0.94[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10368400-10378400	Weak transcription	Fetal Heart	heart
3	chr12:10368400-10378600	Weak transcription	Stomach Mucosa	stomach
4	chr12:10368400-10380200	Weak transcription	GM12878-XiMat	blood
5	chr12:10368400-10380400	Weak transcription	Dnd41	blood
6	chr12:10369000-10377800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:10369400-10377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:10370600-10377600	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:10371200-10377600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:10371400-10377600	Strong transcription	Ovary	ovary
11	chr12:10371600-10377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:10372200-10377600	Strong transcription	Spleen	Spleen
13	chr12:10372400-10377600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:10372400-10377600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:10372800-10379600	Weak transcription	Right Atrium	heart
16	chr12:10373000-10377600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:10373200-10378400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:10373400-10382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:10373600-10377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:10373600-10377600	Strong transcription	Liver	Liver
21	chr12:10373600-10377600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:10373600-10377600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:10373600-10377800	Strong transcription	Placenta	Placenta
24	chr12:10374400-10378800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:10374800-10377600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:10375000-10377800	Weak transcription	Fetal Intestine Small	intestine
27	chr12:10375000-10378000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:10375200-10378000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:10375200-10378400	Weak transcription	K562	blood
30	chr12:10375200-10379000	Weak transcription	Hela-S3	cervix
31	chr12:10375200-10379600	Weak transcription	Thymus	Thymus
32	chr12:10375200-10380000	Weak transcription	Small Intestine	intestine
33	chr12:10375400-10377400	Weak transcription	HMEC	breast
34	chr12:10375400-10378000	Weak transcription	Psoas Muscle	Psoas
35	chr12:10375400-10379600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:10375400-10380600	Weak transcription	Fetal Lung	lung
37	chr12:10375600-10377400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:10375600-10380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:10376000-10379600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:10376400-10377800	Strong transcription	Left Ventricle	heart
41	chr12:10376400-10378000	Weak transcription	NHDF-Ad	bronchial
42	chr12:10376400-10378200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:10376400-10378200	Weak transcription	Esophagus	oesophagus
44	chr12:10376400-10378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:10376400-10380200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:10376400-10380200	Weak transcription	Gastric	stomach
47	chr12:10376400-10380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:10376400-10380400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:10376400-10386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:10376400-10386600	Weak transcription	Brain Substantia Nigra	brain

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