Variant report

Variant	rs4140911
Chromosome Location	chr12:9099034-9099035
allele	A/G
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	chr12:9098618-9099635	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9065401..9068009-chr12:9098811..9103435,5	MCF-7	breast:
2	chr12:9096830..9100498-chr12:9102068..9104762,4	K562	blood:

Variant related genes	Relation type
KLRG1	TF binding region
M6PR	TF binding region
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction
ENSG00000111752	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10842665	0.80[EUR][1000 genomes]
rs11048208	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048241	0.87[EUR][1000 genomes]
rs11048353	0.80[EUR][1000 genomes]
rs11048369	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11494758	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11834163	0.85[EUR][1000 genomes]
rs12371962	0.85[EUR][1000 genomes]
rs1805726	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805730	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805731	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805734	0.92[ASN][1000 genomes]
rs887783	0.91[AMR][1000 genomes];0.92[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
2	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:9087000-9101200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:9091600-9101200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:9093600-9099200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9093600-9099200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:9093600-9099600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:9093800-9099200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:9093800-9099200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:9093800-9099200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:9093800-9099200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:9093800-9099200	Strong transcription	Fetal Thymus	thymus
15	chr12:9093800-9099400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:9093800-9099400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:9093800-9099400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:9093800-9099400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:9093800-9099600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:9093800-9099600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr12:9093800-9099600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:9093800-9099600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:9093800-9099600	Strong transcription	A549	lung
24	chr12:9093800-9099800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:9094000-9099200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr12:9094000-9099200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:9094000-9099200	Strong transcription	Fetal Brain Female	brain
28	chr12:9094000-9099200	Strong transcription	Left Ventricle	heart
29	chr12:9094000-9099200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:9094000-9099200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:9094000-9099400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:9094000-9099600	Strong transcription	Brain Germinal Matrix	brain
33	chr12:9094000-9099800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:9094000-9099800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:9094000-9099800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:9094000-9099800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:9094000-9100200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:9094200-9099200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:9094200-9099200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:9094200-9099200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:9094200-9099200	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:9094200-9099200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:9094200-9099400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:9094200-9099400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:9095200-9099200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:9095800-9099400	Strong transcription	K562	blood
47	chr12:9096600-9099600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:9096600-9100000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:9096600-9100200	Weak transcription	Psoas Muscle	Psoas
50	chr12:9096600-9101200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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