Variant report

Variant	rs74061127
Chromosome Location	chr12:12343357-12343358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12333575..12335738-chr12:12341960..12344629,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11054762	1.00[ASN][1000 genomes]
rs11054765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321230	1.00[ASN][1000 genomes]
rs57125171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58389257	1.00[EUR][1000 genomes]
rs73275029	1.00[ASN][1000 genomes]
rs73275034	1.00[ASN][1000 genomes]
rs73275042	1.00[ASN][1000 genomes]
rs73293337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061139	0.85[AFR][1000 genomes]
rs74061140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061143	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061144	0.85[AFR][1000 genomes]
rs74061150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12304000-12353000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12312000-12350600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:12312200-12355800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
6	chr12:12315400-12371600	Weak transcription	Lung	lung
7	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:12334200-12350800	Weak transcription	Fetal Thymus	thymus
9	chr12:12334400-12348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:12334400-12349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:12334400-12349600	Weak transcription	Dnd41	blood
12	chr12:12334400-12351200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:12334400-12352000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:12334400-12354000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:12334600-12349200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:12334800-12346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:12334800-12352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:12335200-12352000	Weak transcription	HSMM	muscle
20	chr12:12335200-12365800	Weak transcription	NHEK	skin
21	chr12:12335800-12343600	Weak transcription	HMEC	breast
22	chr12:12335800-12354000	Weak transcription	HSMMtube	muscle
23	chr12:12336000-12352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:12336000-12354200	Weak transcription	Primary T cells from cord blood	blood
25	chr12:12336000-12355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:12336200-12343400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:12336200-12343600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:12336200-12347000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
30	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
32	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
33	chr12:12336400-12343400	Weak transcription	Brain Angular Gyrus	brain
34	chr12:12336400-12343800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:12336400-12343800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:12336400-12343800	Weak transcription	HUVEC	blood vessel
37	chr12:12336400-12344000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:12336400-12344000	Weak transcription	Brain Anterior Caudate	brain
39	chr12:12336400-12348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:12336400-12349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:12336400-12357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:12336600-12343600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:12336600-12343600	Weak transcription	NH-A	brain
44	chr12:12337000-12343400	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:12337000-12343600	Weak transcription	NHLF	lung
46	chr12:12337000-12345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:12337600-12348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:12337800-12348400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:12338200-12349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:12338200-12355800	Weak transcription	Stomach Mucosa	stomach

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