Variant report

Variant	rs13377930
Chromosome Location	chr12:49462536-49462537
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
2	chr12:49462406..49465445-chr12:49657502..49661212,4	K562	blood:
3	chr12:49462171..49464996-chr12:49523872..49525977,3	MCF-7	breast:
4	chr12:49462517..49467862-chr12:49502773..49505660,4	MCF-7	breast:
5	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
6	chr12:49462455..49464108-chr12:49657502..49660398,3	K562	blood:
7	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
8	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
9	chr12:49461899..49463534-chr12:49657876..49660363,2	MCF-7	breast:
10	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
11	chr12:49460491..49475559-chr12:49480736..49489831,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181929	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000258232	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000257346	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11168821	0.89[AFR][1000 genomes]
rs12303192	1.00[AMR][1000 genomes]
rs12305127	1.00[AMR][1000 genomes]
rs12314249	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
5	nsv819798	chr12:49460227-49463587	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49455200-49462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:49455200-49462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:49455400-49462600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:49455400-49462600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:49455400-49462600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:49455400-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:49455400-49462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:49455400-49462600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:49455400-49462600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:49455400-49462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:49455400-49462800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:49455400-49462800	Weak transcription	Fetal Lung	lung
13	chr12:49455400-49462800	Weak transcription	Right Ventricle	heart
14	chr12:49455400-49462800	Weak transcription	HSMM	muscle
15	chr12:49455400-49463000	Weak transcription	Lung	lung
16	chr12:49455400-49463200	Weak transcription	Aorta	Aorta
17	chr12:49455600-49462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:49455600-49462600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:49455600-49462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:49455600-49462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:49455600-49462600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:49455600-49462600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:49455600-49462600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:49455600-49462600	Weak transcription	Fetal Thymus	thymus
26	chr12:49455600-49462600	Weak transcription	HMEC	breast
27	chr12:49455600-49462600	Weak transcription	HUVEC	blood vessel
28	chr12:49455600-49462600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:49455600-49462600	Weak transcription	NH-A	brain
30	chr12:49455600-49462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:49455600-49462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:49455600-49462800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:49455600-49462800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:49455600-49462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:49455600-49462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:49455600-49462800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:49455600-49462800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:49455600-49462800	Weak transcription	Fetal Kidney	kidney
39	chr12:49455600-49462800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:49455600-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:49455600-49463000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:49455600-49463000	Weak transcription	HSMMtube	muscle
43	chr12:49455800-49462600	Weak transcription	Primary B cells from cord blood	blood
44	chr12:49455800-49462600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:49455800-49462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:49455800-49462600	Weak transcription	Osteobl	bone
47	chr12:49457800-49462600	Weak transcription	A549	lung
48	chr12:49458000-49462600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:49458000-49462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:49458000-49462600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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