Variant report

Variant	rs59644448
Chromosome Location	chr12:104459445-104459446
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	UBTF	chr12:104459432-104459470	K562	blood:	n/a	n/a
2	GATA3	chr12:104459306-104459746	T-47D	breast:	n/a	n/a
3	GATA3	chr12:104459343-104459622	T-47D	breast:	n/a	n/a
4	HCFC1	chr12:104457328-104459464	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr12:104457085-104460152	SK-N-SH	brain:	n/a	chr12:104458234-104458243
6	MAZ	chr12:104457547-104459919	IMR90	lung:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242

No.	Distal block	Cell Line	Cell type
1	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
2	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
3	chr12:104458613..104460615-chr12:104466800..104468593,2	K562	blood:
4	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

Variant related genes	Relation type
GLT8D2	TF binding region
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10507174	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10507175	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111898	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422505	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423684	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423844	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424943	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426862	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427339	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579268	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582966	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825521	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17192854	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805748	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805766	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142441	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812800	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850022	0.85[ASN][1000 genomes]
rs4131750	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131752	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4340124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964219	0.87[ASN][1000 genomes]
rs59079741	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61647968	0.85[ASN][1000 genomes]
rs61937639	1.00[ASN][1000 genomes]
rs61937641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61937642	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61939180	0.85[ASN][1000 genomes]
rs61939183	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939188	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61939190	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61939192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61939195	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939196	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939198	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939199	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61939200	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61939201	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73177987	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73177991	0.88[AMR][1000 genomes];0.85[EUR][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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104457000-104459600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:104457000-104459600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:104457200-104459600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:104457200-104460000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:104457400-104459600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:104457400-104459600	Active TSS	Left Ventricle	heart
7	chr12:104457400-104459600	Active TSS	Psoas Muscle	Psoas
8	chr12:104457400-104459800	Active TSS	NHDF-Ad	bronchial
9	chr12:104457400-104460000	Active TSS	Right Atrium	heart
10	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104457600-104459600	Active TSS	Colon Smooth Muscle	Colon
12	chr12:104457600-104459600	Active TSS	Ovary	ovary
13	chr12:104457600-104459800	Active TSS	HSMMtube	muscle
14	chr12:104457800-104459600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:104457800-104459600	Active TSS	Brain Hippocampus Middle	brain
16	chr12:104457800-104459600	Active TSS	HMEC	breast
17	chr12:104457800-104460000	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:104457800-104460000	Active TSS	Right Ventricle	heart
19	chr12:104458000-104459600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:104458600-104459600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:104458600-104459600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:104458800-104459600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr12:104458800-104459600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:104458800-104459600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:104458800-104459600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr12:104458800-104459600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:104458800-104459600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:104458800-104459600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:104458800-104459600	Flanking Active TSS	Hela-S3	cervix
30	chr12:104458800-104459800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:104458800-104459800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:104458800-104459800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:104458800-104459800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr12:104458800-104459800	Flanking Active TSS	Liver	Liver
35	chr12:104458800-104459800	Flanking Active TSS	Thymus	Thymus
36	chr12:104458800-104460000	Flanking Active TSS	Fetal Brain Female	brain
37	chr12:104458800-104460000	Flanking Active TSS	HUVEC	blood vessel
38	chr12:104459000-104459600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:104459000-104459600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:104459000-104459600	Flanking Active TSS	HepG2	liver
41	chr12:104459000-104459800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:104459000-104459800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:104459000-104459800	Flanking Active TSS	Fetal Brain Male	brain
44	chr12:104459000-104460000	Flanking Active TSS	Dnd41	blood
45	chr12:104459000-104460000	Flanking Active TSS	NH-A	brain
46	chr12:104459000-104460000	Flanking Active TSS	NHEK	skin
47	chr12:104459000-104460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104459200-104459600	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:104459200-104459600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:104459200-104459600	Weak transcription	Gastric	stomach

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