Variant report

Variant	rs7300562
Chromosome Location	chr12:123951423-123951424
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123871622..123874415-chr12:123950966..123953833,2	MCF-7	breast:
2	chr12:123949352..123951690-chr12:123952165..123954537,2	MCF-7	breast:
3	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
4	chr12:123950649..123953309-chr12:123967108..123969752,2	K562	blood:
5	chr12:123941593..123946153-chr12:123949136..123952652,8	K562	blood:
6	chr12:123950525..123953313-chr12:123954953..123957531,2	MCF-7	breast:
7	chr12:123940979..123946241-chr12:123948686..123953480,7	MCF-7	breast:
8	chr12:123941485..123944968-chr12:123948238..123952652,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11497313	1.00[ASN][1000 genomes]
rs11507739	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11507740	0.93[EUR][1000 genomes]
rs11516178	1.00[ASN][1000 genomes]
rs11522340	1.00[ASN][1000 genomes]
rs11534428	1.00[ASN][1000 genomes]
rs11559494	1.00[ASN][1000 genomes]
rs11560820	1.00[ASN][1000 genomes]
rs13303080	0.87[EUR][1000 genomes]
rs13303107	0.93[EUR][1000 genomes]
rs13303167	0.91[EUR][1000 genomes]
rs13303200	0.87[EUR][1000 genomes]
rs13303266	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13303358	1.00[ASN][1000 genomes]
rs28413969	0.93[EUR][1000 genomes]
rs28483351	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497891	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28557411	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28613273	1.00[ASN][1000 genomes]
rs28667043	0.94[EUR][1000 genomes]
rs28728075	1.00[ASN][1000 genomes]
rs28829651	1.00[ASN][1000 genomes]
rs3087496	1.00[ASN][1000 genomes]
rs34031619	1.00[ASN][1000 genomes]
rs34047494	0.89[EUR][1000 genomes]
rs34351395	0.87[EUR][1000 genomes]
rs34762274	0.87[EUR][1000 genomes]
rs35090528	0.96[EUR][1000 genomes]
rs35157218	0.91[EUR][1000 genomes]
rs35322317	1.00[ASN][1000 genomes]
rs35370271	0.96[EUR][1000 genomes]
rs35970945	0.93[EUR][1000 genomes]
rs36084544	0.88[EUR][1000 genomes]
rs4047517	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4078291	1.00[ASN][1000 genomes]
rs4479070	1.00[ASN][1000 genomes]
rs56412477	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56860279	0.93[EUR][1000 genomes]
rs6606747	1.00[ASN][1000 genomes]
rs6606748	0.96[EUR][1000 genomes]
rs71456799	0.93[EUR][1000 genomes]
rs7297035	0.90[EUR][1000 genomes]
rs7306670	0.93[EUR][1000 genomes]
rs7315901	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412280	1.00[ASN][1000 genomes]
rs7960816	0.93[EUR][1000 genomes]
rs7975122	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7975636	1.00[ASN][1000 genomes]
rs7978323	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330650	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697264	1.00[ASN][1000 genomes]
rs9697459	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697581	0.87[EUR][1000 genomes]
rs9697616	1.00[ASN][1000 genomes]
rs9697628	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9697735	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9723192	1.00[ASN][1000 genomes]
rs9777813	1.00[ASN][1000 genomes]
rs9778001	0.88[EUR][1000 genomes]
rs9778112	1.00[ASN][1000 genomes]
rs9803116	0.91[EUR][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	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	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123943600-123955800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123943800-123956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:123943800-123956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:123943800-123958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:123943800-123959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:123943800-123959600	Weak transcription	Psoas Muscle	Psoas
7	chr12:123943800-123961200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:123944400-123955800	Weak transcription	NHEK	skin
9	chr12:123944600-123956400	Weak transcription	Stomach Mucosa	stomach
10	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
11	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
12	chr12:123944800-123964600	Weak transcription	Small Intestine	intestine
13	chr12:123945200-123959200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:123945800-123965600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123946000-123965600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:123946200-123957600	Strong transcription	Fetal Thymus	thymus
17	chr12:123946200-123957800	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:123946400-123952600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:123946400-123953200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:123946800-123959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:123947000-123952200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:123947200-123958600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:123947600-123953600	Strong transcription	Liver	Liver
24	chr12:123947600-123971800	Strong transcription	Fetal Intestine Small	intestine
25	chr12:123947800-123955800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:123948000-123952400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:123948200-123962800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:123948600-123951600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:123948600-123951800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:123948600-123952200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:123949000-123952400	Strong transcription	Dnd41	blood
32	chr12:123949000-123952600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:123949000-123952600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:123949000-123952800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:123949000-123953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:123949000-123953200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:123949000-123953400	Strong transcription	Fetal Intestine Large	intestine
38	chr12:123949000-123957800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:123949000-123966200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:123949200-123951800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:123949200-123952200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:123949200-123952400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:123949200-123953400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:123949200-123955800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:123949200-123957600	Strong transcription	Primary T cells from cord blood	blood
47	chr12:123949200-123957600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr12:123949600-123952200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:123949600-123952200	Strong transcription	Thymus	Thymus
50	chr12:123949600-123956200	Weak transcription	NH-A	brain

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