Variant report

Variant	rs61509618
Chromosome Location	chr12:123998111-123998112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
2	chr12:123996495..123998550-chr12:124017784..124020121,2	K562	blood:
3	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11507746	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11507747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791561	1.00[EUR][1000 genomes]
rs56343236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56399346	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56798027	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57354242	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59188352	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412256	1.00[EUR][1000 genomes]
rs73412279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9697674	1.00[EUR][1000 genomes]
rs9778175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers 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	14 gene(s)	inside rSNPs	diseases
4	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv3325641	chr12:123993699-123998197	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3413875	chr12:123993699-123998797	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3409514	chr12:123993999-123999997	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
2	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
3	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
7	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:123992600-124012800	Weak transcription	Thymus	Thymus
9	chr12:123993400-123998400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:123993600-123999000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:123993600-124011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:123994000-123998600	Strong transcription	Osteobl	bone
13	chr12:123994000-123999000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:123994200-123998600	Strong transcription	Brain Germinal Matrix	brain
15	chr12:123994200-123998800	Strong transcription	Brain Anterior Caudate	brain
16	chr12:123994200-123998800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr12:123994200-123998800	Strong transcription	Brain Hippocampus Middle	brain
18	chr12:123994200-123998800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:123994200-123998800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:123994200-123999600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123994200-123999600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:123994400-123999200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:123994400-124016200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:123994600-123998400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:123994600-124003800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:123994600-124016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:123994800-123998200	Strong transcription	K562	blood
28	chr12:123994800-123998800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:123994800-123998800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123994800-123998800	Strong transcription	Adipose Nuclei	Adipose
31	chr12:123994800-123999000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:123994800-124003400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:123995000-123998600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:123995000-124000600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:123995200-123998800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:123995200-124016400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:123995400-123998600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:123995400-123998600	Strong transcription	NHLF	lung
39	chr12:123995400-124009400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:123995600-123998800	Strong transcription	NHDF-Ad	bronchial
41	chr12:123995600-124003200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:123996000-124002200	Weak transcription	Hela-S3	cervix
43	chr12:123996200-123998200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:123996200-124002200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:123996400-124000000	Weak transcription	Placenta	Placenta
46	chr12:123996600-123998800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:123996600-124000800	Weak transcription	Primary T cells from cord blood	blood
48	chr12:123996800-123998400	Enhancers	Right Atrium	heart
49	chr12:123997000-123998200	Genic enhancers	Right Ventricle	heart
50	chr12:123997000-123998800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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