Variant report

Variant	rs73416253
Chromosome Location	chr12:124124852-124124853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124084914..124087862-chr12:124122413..124125179,2	K562	blood:
2	chr12:124123949..124126710-chr12:124128875..124131426,2	K562	blood:
3	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111364	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111361	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1707721	1.00[AMR][1000 genomes]
rs1707722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1707723	0.82[AFR][1000 genomes]
rs57056482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60822223	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61611881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414291	1.00[AMR][1000 genomes]
rs73414297	1.00[AMR][1000 genomes]
rs73416206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs786453	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
14	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1040119	chr12:124122376-124152950	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124119200-124129800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:124119200-124129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124119200-124130000	Weak transcription	Pancreas	Pancrea
4	chr12:124119200-124130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124119200-124130200	Weak transcription	Right Ventricle	heart
6	chr12:124119200-124141000	Weak transcription	Aorta	Aorta
7	chr12:124119200-124155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:124119400-124127200	Weak transcription	Placenta	Placenta
9	chr12:124119400-124129600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:124119400-124129600	Weak transcription	HSMMtube	muscle
11	chr12:124119400-124129800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:124119400-124129800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:124119400-124129800	Weak transcription	Lung	lung
14	chr12:124119400-124129800	Weak transcription	Ovary	ovary
15	chr12:124119400-124130200	Weak transcription	Fetal Kidney	kidney
16	chr12:124119400-124130200	Weak transcription	Gastric	stomach
17	chr12:124119400-124131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:124119400-124132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:124119600-124125200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:124119600-124126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:124119600-124126600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:124119600-124126600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:124119600-124126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:124119600-124126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:124119600-124126800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:124119600-124126800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:124119600-124127000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:124119600-124127200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:124119600-124127800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:124119600-124128800	Weak transcription	Fetal Brain Female	brain
31	chr12:124119600-124129200	Weak transcription	Colonic Mucosa	Colon
32	chr12:124119600-124129200	Weak transcription	HSMM	muscle
33	chr12:124119600-124129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:124119600-124129600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:124119600-124129800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:124119600-124130000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:124119600-124139000	Weak transcription	Fetal Heart	heart
38	chr12:124119600-124140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:124119600-124143000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:124119800-124125000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:124119800-124126400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:124119800-124126400	Weak transcription	Left Ventricle	heart
43	chr12:124119800-124126800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:124119800-124126800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:124119800-124126800	Weak transcription	A549	lung
46	chr12:124119800-124127000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:124119800-124127200	Weak transcription	GM12878-XiMat	blood
48	chr12:124119800-124127200	Weak transcription	NHDF-Ad	bronchial
49	chr12:124119800-124127800	Weak transcription	Primary B cells from cord blood	blood
50	chr12:124119800-124127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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