Variant report

Variant	rs61953572
Chromosome Location	chr12:124416054-124416055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124415725-124416170	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124408910..124411445-chr12:124416040..124418769,2	MCF-7	breast:

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000197653	Chromatin interaction
ENSG00000270028	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022320	1.00[ASN][1000 genomes]
rs1022321	1.00[ASN][1000 genomes]
rs10846556	1.00[ASN][1000 genomes]
rs10846559	1.00[ASN][1000 genomes]
rs10846569	1.00[ASN][1000 genomes]
rs11057355	1.00[ASN][1000 genomes]
rs11057358	1.00[ASN][1000 genomes]
rs11832329	1.00[ASN][1000 genomes]
rs11835233	1.00[ASN][1000 genomes]
rs11835252	1.00[ASN][1000 genomes]
rs1568027	1.00[ASN][1000 genomes]
rs1568029	1.00[ASN][1000 genomes]
rs2340692	1.00[ASN][1000 genomes]
rs2674504	1.00[ASN][1000 genomes]
rs2674506	1.00[ASN][1000 genomes]
rs34535130	1.00[ASN][1000 genomes]
rs4930728	1.00[ASN][1000 genomes]
rs4930732	1.00[ASN][1000 genomes]
rs56399357	1.00[ASN][1000 genomes]
rs67861770	1.00[ASN][1000 genomes]
rs7136121	1.00[ASN][1000 genomes]
rs7137299	1.00[ASN][1000 genomes]
rs7137310	1.00[ASN][1000 genomes]
rs71458816	1.00[ASN][1000 genomes]
rs7303002	1.00[ASN][1000 genomes]
rs7973103	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:124400400-124417800	Weak transcription	Spleen	Spleen
4	chr12:124407400-124422000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124408400-124418000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
7	chr12:124409400-124419600	Weak transcription	Right Ventricle	heart
8	chr12:124409600-124426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:124409800-124419400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:124410000-124418600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:124410200-124418200	Weak transcription	Fetal Intestine Small	intestine
12	chr12:124410400-124420600	Weak transcription	Pancreas	Pancrea
13	chr12:124410800-124419200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:124410800-124420600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:124411200-124420600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:124411800-124416200	Strong transcription	Brain Germinal Matrix	brain
17	chr12:124412000-124420400	Enhancers	Fetal Thymus	thymus
18	chr12:124412400-124416200	Enhancers	Thymus	Thymus
19	chr12:124412800-124420400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:124413000-124418800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:124413200-124418400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:124414000-124418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:124414600-124416600	Strong transcription	Fetal Brain Female	brain
24	chr12:124414800-124417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:124415000-124419000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:124415000-124419000	Weak transcription	HSMMtube	muscle
27	chr12:124415000-124423000	Weak transcription	HSMM	muscle
28	chr12:124415200-124418200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:124415200-124419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:124415800-124416200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:124415800-124416200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:124415800-124416200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:124415800-124416400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr12:124415800-124416400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:124415800-124416400	Bivalent Enhancer	Dnd41	blood
36	chr12:124415800-124417400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:124415800-124418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:124415800-124419000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:124416000-124416200	Enhancers	Primary T cells from cord blood	blood
40	chr12:124416000-124416400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:124416000-124416800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr12:124416000-124416800	Enhancers	Lung	lung
43	chr12:124416000-124417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:124416000-124417400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:124416000-124419400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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