Variant report

Variant	rs61609471
Chromosome Location	chr12:57383595-57383596
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57115987..57119650-chr12:57382476..57385530,4	K562	blood:
2	chr12:57326458..57328470-chr12:57381157..57384002,3	MCF-7	breast:
3	chr12:57117504..57119856-chr12:57383236..57385393,2	K562	blood:
4	chr12:57383555..57386329-chr12:57391062..57393949,2	K562	blood:
5	chr12:57320297..57321910-chr12:57382955..57384633,2	MCF-7	breast:
6	chr12:57347121..57349496-chr12:57383085..57384758,2	MCF-7	breast:
7	chr12:57347864..57350577-chr12:57381566..57383920,2	MCF-7	breast:
8	chr12:57327412..57328967-chr12:57383083..57385624,2	K562	blood:
9	chr12:57381152..57386440-chr12:57387295..57390805,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170426	Chromatin interaction
ENSG00000268162	Chromatin interaction
ENSG00000258442	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11172083	1.00[AMR][1000 genomes]
rs11172087	1.00[AMR][1000 genomes]
rs2229281	1.00[AMR][1000 genomes]
rs34035404	1.00[AMR][1000 genomes]
rs34241718	1.00[AMR][1000 genomes]
rs57244425	1.00[AMR][1000 genomes]
rs60301769	1.00[AMR][1000 genomes]
rs60957079	1.00[AMR][1000 genomes]
rs73330570	1.00[AMR][1000 genomes]
rs73330571	1.00[AMR][1000 genomes]
rs73332659	1.00[AMR][1000 genomes]
rs73332662	1.00[AMR][1000 genomes]
rs73332664	1.00[AMR][1000 genomes]
rs73332676	1.00[AMR][1000 genomes]
rs73332678	1.00[AMR][1000 genomes]
rs73332681	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57361800-57389000	Weak transcription	Aorta	Aorta
2	chr12:57372000-57384800	Weak transcription	Gastric	stomach
3	chr12:57372200-57384800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:57373200-57388600	Weak transcription	Fetal Brain Female	brain
5	chr12:57373200-57388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57377000-57395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:57380000-57391400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:57380200-57385400	Weak transcription	HepG2	liver
9	chr12:57380800-57385000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:57381400-57384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:57381400-57384800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:57381400-57384800	Weak transcription	Esophagus	oesophagus
13	chr12:57381400-57385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:57381400-57385000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:57381400-57388800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:57381400-57389000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57381400-57389000	Weak transcription	Thymus	Thymus
18	chr12:57381400-57393800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:57381400-57395400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:57381400-57396400	Weak transcription	HMEC	breast
21	chr12:57381600-57383600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:57381600-57384800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:57381600-57384800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:57381600-57388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:57381800-57384600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:57381800-57384600	Weak transcription	Lung	lung
27	chr12:57381800-57384600	Weak transcription	Spleen	Spleen
28	chr12:57381800-57384800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:57381800-57384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:57381800-57384800	Weak transcription	Brain Anterior Caudate	brain
31	chr12:57381800-57385000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:57381800-57385000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:57381800-57385000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:57381800-57385000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:57381800-57385000	Enhancers	HSMMtube	muscle
36	chr12:57381800-57388800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:57381800-57389000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:57381800-57389200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:57381800-57389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:57381800-57390800	Weak transcription	Dnd41	blood
41	chr12:57381800-57391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:57381800-57392600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:57381800-57393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:57381800-57393400	Weak transcription	Pancreas	Pancrea
45	chr12:57381800-57395200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:57381800-57396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:57381800-57397000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:57382000-57389000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:57382000-57392000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:57382000-57392400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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