Variant report

Variant	rs73305101
Chromosome Location	chr12:50077578-50077579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50076925..50079550-chr12:50081857..50084496,3	K562	blood:
2	chr12:49524036..49526411-chr12:50076772..50079161,2	K562	blood:
3	chr12:50076777..50080076-chr12:50133870..50137090,3	K562	blood:
4	chr12:50065969..50068241-chr12:50076218..50078635,2	K562	blood:
5	chr12:50073941..50076090-chr12:50077061..50078707,2	MCF-7	breast:
6	chr12:50073624..50075414-chr12:50077463..50080015,2	K562	blood:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000139644	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	1.00[AMR][1000 genomes]
rs57124034	1.00[AMR][1000 genomes]
rs57625108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58039341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61438877	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]
rs73306844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306864	1.00[EUR][1000 genomes]
rs73306865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309026	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50068200-50077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:50068600-50077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:50069200-50077600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:50069200-50078400	Weak transcription	NHLF	lung
6	chr12:50069400-50077600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:50069400-50077600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:50069400-50077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:50069400-50078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:50069600-50078000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:50069600-50078400	Weak transcription	HSMM	muscle
12	chr12:50069600-50078600	Weak transcription	Small Intestine	intestine
13	chr12:50070000-50083400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:50070200-50077600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:50070200-50077800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:50070200-50077800	Weak transcription	Fetal Stomach	stomach
17	chr12:50073200-50077800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:50074000-50080600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:50074200-50077800	Weak transcription	Lung	lung
20	chr12:50074400-50078600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:50074400-50081800	Weak transcription	Right Ventricle	heart
22	chr12:50074600-50079000	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:50074600-50079400	Enhancers	GM12878-XiMat	blood
24	chr12:50075000-50077800	Weak transcription	Fetal Lung	lung
25	chr12:50075800-50082600	Weak transcription	Primary B cells from cord blood	blood
26	chr12:50076400-50079800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:50076600-50078600	Enhancers	Fetal Thymus	thymus
28	chr12:50076600-50078800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:50076600-50078800	Enhancers	Primary T cells from cord blood	blood
30	chr12:50076600-50078800	Enhancers	Fetal Muscle Leg	muscle
31	chr12:50076600-50079000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50076600-50079400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:50076800-50078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:50076800-50078800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:50076800-50078800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:50076800-50078800	Enhancers	Right Atrium	heart
37	chr12:50076800-50079000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:50076800-50079200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:50076800-50079400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:50076800-50079400	Enhancers	HSMMtube	muscle
41	chr12:50076800-50079400	Enhancers	NHDF-Ad	bronchial
42	chr12:50077000-50077800	Weak transcription	Fetal Heart	heart
43	chr12:50077000-50077800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:50077000-50078000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:50077000-50078000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:50077000-50078200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:50077000-50079000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:50077000-50082800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:50077000-50084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:50077200-50078000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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