Variant report

Variant	rs12428949
Chromosome Location	chr13:39614350-39614351
allele	G/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	ZNF384	chr13:39614013-39614838	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39613981..39615721-chr13:39616266..39619122,2	K562	blood:
2	chr13:39520213..39521754-chr13:39613104..39615261,2	MCF-7	breast:

Variant related genes	Relation type
NHLRC3	TF binding region
PROSER1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012243	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1043348	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11147746	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12427448	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12428640	0.86[EUR][1000 genomes]
rs12584883	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12585367	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17059019	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17826235	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2148419	0.96[ASN][1000 genomes]
rs3751375	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60968029	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61737582	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563659	0.81[ASN][1000 genomes]
rs7323843	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73456199	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943225	0.81[ASN][1000 genomes]
rs943233	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39609000-39615000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:39609000-39615200	Active TSS	K562	blood
3	chr13:39609600-39614800	Active TSS	Placenta	Placenta
4	chr13:39609800-39614400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:39613000-39614800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
8	chr13:39613200-39614600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr13:39613200-39614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:39613200-39622200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:39613200-39626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:39613200-39636400	Weak transcription	Gastric	stomach
13	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
14	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
15	chr13:39613200-39647200	Weak transcription	Lung	lung
16	chr13:39613400-39614400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:39613400-39615000	Flanking Active TSS	Dnd41	blood
18	chr13:39613400-39615200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:39613400-39615800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:39613400-39620600	Weak transcription	Psoas Muscle	Psoas
21	chr13:39613400-39622400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:39613400-39625000	Weak transcription	HSMMtube	muscle
23	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
24	chr13:39613600-39614400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:39613600-39614400	Enhancers	Liver	Liver
26	chr13:39613600-39614400	Enhancers	NHDF-Ad	bronchial
27	chr13:39613600-39614800	Enhancers	Osteobl	bone
28	chr13:39613600-39615000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr13:39613600-39615000	Enhancers	Brain Angular Gyrus	brain
30	chr13:39613600-39615000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:39613600-39615200	Enhancers	Primary T cells from cord blood	blood
32	chr13:39613600-39615200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:39613600-39615600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr13:39613600-39616000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:39613600-39617200	Weak transcription	Fetal Thymus	thymus
36	chr13:39613600-39617400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:39613600-39617400	Weak transcription	Ovary	ovary
38	chr13:39613600-39618000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:39613600-39618000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr13:39613600-39618200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:39613600-39623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:39613600-39625200	Weak transcription	NHLF	lung
43	chr13:39613600-39626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:39613600-39626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:39613800-39614400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:39613800-39614600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:39613800-39614600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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