Variant report

Variant	rs73309004
Chromosome Location	chr12:50145438-50145439
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	chr12:50143526-50145493	K562	blood:	n/a	n/a
2	JUN	chr12:50143426-50145488	K562	blood:	n/a	chr12:50145327-50145336 chr12:50144399-50144407 chr12:50144400-50144411

No.	Distal block	Cell Line	Cell type
1	chr12:50030201..50031969-chr12:50143354..50146117,2	K562	blood:
2	chr12:50144547..50147013-chr12:50560890..50562715,2	MCF-7	breast:
3	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
4	chr12:49955002..49957285-chr12:50144453..50146107,2	K562	blood:

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000187778	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000110844	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12300376	1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[EUR][1000 genomes]
rs12306951	1.00[EUR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs1317263	1.00[EUR][1000 genomes]
rs17119738	1.00[EUR][1000 genomes]
rs17123724	1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	1.00[EUR][1000 genomes]
rs17123787	1.00[EUR][1000 genomes]
rs57046047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57124034	1.00[AMR][1000 genomes]
rs57625108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58039341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61438877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305065	1.00[AMR][1000 genomes]
rs73305068	1.00[AMR][1000 genomes]
rs73305070	1.00[AMR][1000 genomes]
rs73305081	1.00[AMR][1000 genomes]
rs73305100	1.00[AMR][1000 genomes]
rs73305101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306864	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73306865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:50137000-50146200	Weak transcription	HSMMtube	muscle
4	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50137200-50146200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:50137400-50146400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:50137400-50146400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:50137400-50146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
11	chr12:50137600-50146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:50137800-50146200	Weak transcription	Fetal Kidney	kidney
13	chr12:50138200-50146400	Weak transcription	Fetal Brain Female	brain
14	chr12:50138600-50146400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:50139000-50146200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:50139000-50146600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:50141000-50146200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:50141400-50146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:50142200-50148200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:50143000-50145600	Genic enhancers	HepG2	liver
21	chr12:50143200-50146200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:50143600-50146000	Enhancers	Stomach Mucosa	stomach
23	chr12:50144000-50146800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:50144000-50146800	Weak transcription	Lung	lung
25	chr12:50144000-50151600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:50144200-50145800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50144200-50146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:50144200-50146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:50144200-50146600	Enhancers	Fetal Intestine Small	intestine
30	chr12:50144200-50146800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:50144200-50148800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:50144400-50146200	Weak transcription	HSMM	muscle
33	chr12:50144400-50146400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:50144400-50146600	Weak transcription	NHDF-Ad	bronchial
35	chr12:50144400-50146800	Weak transcription	Esophagus	oesophagus
36	chr12:50144400-50146800	Weak transcription	Gastric	stomach
37	chr12:50144400-50147000	Weak transcription	Pancreas	Pancrea
38	chr12:50144400-50147600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:50144600-50145600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr12:50144600-50146000	Enhancers	Adipose Nuclei	Adipose
41	chr12:50144600-50146200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:50144600-50146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:50144600-50146200	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:50144600-50146400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:50144600-50146400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:50144600-50146400	Weak transcription	NH-A	brain
47	chr12:50144600-50146600	Weak transcription	Colonic Mucosa	Colon
48	chr12:50144600-50146600	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:50144600-50146600	Weak transcription	Fetal Stomach	stomach
50	chr12:50144600-50146600	Weak transcription	Thymus	Thymus

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