Variant report

Variant	rs73420349
Chromosome Location	chr12:124240729-124240730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:
2	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:

Variant related genes	Relation type
ENSG00000197653	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11833681	1.00[EUR][1000 genomes]
rs11835416	1.00[EUR][1000 genomes]
rs11836598	1.00[EUR][1000 genomes]
rs56025259	1.00[EUR][1000 genomes]
rs56096831	1.00[EUR][1000 genomes]
rs57024764	1.00[EUR][1000 genomes]
rs57861885	1.00[EUR][1000 genomes]
rs58292766	1.00[EUR][1000 genomes]
rs59107032	1.00[EUR][1000 genomes]
rs59540041	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59689888	1.00[EUR][1000 genomes]
rs60422087	1.00[EUR][1000 genomes]
rs60509888	1.00[EUR][1000 genomes]
rs60571579	1.00[EUR][1000 genomes]
rs60654678	1.00[EUR][1000 genomes]
rs60890562	1.00[EUR][1000 genomes]
rs61174884	1.00[EUR][1000 genomes]
rs61231375	1.00[EUR][1000 genomes]
rs61730202	1.00[EUR][1000 genomes]
rs61735933	1.00[EUR][1000 genomes]
rs61756271	1.00[EUR][1000 genomes]
rs7135932	1.00[EUR][1000 genomes]
rs7296360	1.00[EUR][1000 genomes]
rs73420341	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73420352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962743	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
3	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:124203600-124242400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:124203600-124242400	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:124203600-124244600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:124203800-124245000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:124203800-124248000	Strong transcription	Dnd41	blood
11	chr12:124205000-124242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:124206000-124241800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:124208800-124244800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:124209200-124242600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:124213000-124243400	Strong transcription	Fetal Intestine Small	intestine
16	chr12:124215400-124242600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:124215400-124244800	Strong transcription	Liver	Liver
18	chr12:124215800-124242400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:124221800-124246200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:124224200-124246400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:124229800-124246400	Weak transcription	Psoas Muscle	Psoas
22	chr12:124230200-124246000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:124231600-124243400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:124232000-124246400	Weak transcription	NHDF-Ad	bronchial
25	chr12:124232400-124241800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:124233000-124243400	Strong transcription	Left Ventricle	heart
27	chr12:124233200-124242400	Strong transcription	Spleen	Spleen
28	chr12:124233400-124242600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:124233600-124241400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:124233600-124245000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:124233600-124245400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:124233800-124245400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:124234400-124245000	Weak transcription	HepG2	liver
35	chr12:124234400-124246000	Weak transcription	Hela-S3	cervix
36	chr12:124234800-124246400	Weak transcription	Stomach Mucosa	stomach
37	chr12:124235000-124246200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:124235400-124246000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:124235400-124246400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:124235800-124241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:124235800-124242400	Weak transcription	NHLF	lung
42	chr12:124235800-124244400	Weak transcription	Fetal Brain Male	brain
43	chr12:124236400-124242400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:124237200-124242200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:124237200-124245400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:124238000-124241200	Strong transcription	Small Intestine	intestine
47	chr12:124238000-124241600	Strong transcription	Esophagus	oesophagus
48	chr12:124238000-124241600	Strong transcription	Gastric	stomach
49	chr12:124238600-124243600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:124238800-124242000	Strong transcription	A549	lung

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