Variant report

Variant	rs73420329
Chromosome Location	chr12:124216999-124217000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124208285..124210761-chr12:124216030..124218453,2	MCF-7	breast:
2	chr12:124155020..124157089-chr12:124215035..124217819,2	MCF-7	breast:
3	chr1:185871488..185872430-chr12:124216841..124217554,2	MCF-7	breast:
4	chr12:124195139..124196741-chr12:124216677..124218308,2	MCF-7	breast:
5	chr12:124205928..124208460-chr12:124216017..124218641,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168778	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000239215	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10450701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57988149	1.00[AMR][1000 genomes]
rs60567004	1.00[AMR][1000 genomes]
rs60619560	1.00[AMR][1000 genomes]
rs73416222	1.00[AMR][1000 genomes]
rs73416238	1.00[AMR][1000 genomes]
rs73416287	1.00[AMR][1000 genomes]
rs73416290	1.00[AMR][1000 genomes]
rs73418112	1.00[AMR][1000 genomes]
rs73420332	1.00[AMR][1000 genomes]
rs73420336	1.00[AMR][1000 genomes]
rs73420342	1.00[AMR][1000 genomes]
rs73420356	1.00[AMR][1000 genomes]
rs73420365	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124197600-124234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:124198800-124223600	Weak transcription	Right Atrium	heart
3	chr12:124199600-124221000	Weak transcription	Psoas Muscle	Psoas
4	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
6	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:124203000-124230600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:124203400-124239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:124203600-124221000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:124203600-124242400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:124203600-124242400	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:124203600-124244600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:124203800-124240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:124203800-124245000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:124203800-124248000	Strong transcription	Dnd41	blood
18	chr12:124204000-124222400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:124204000-124235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:124204000-124235800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:124204000-124239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:124204200-124230000	Strong transcription	Fetal Brain Female	brain
23	chr12:124204400-124230000	Strong transcription	Placenta	Placenta
24	chr12:124205000-124242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124205400-124217000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:124205400-124233200	Weak transcription	Stomach Mucosa	stomach
27	chr12:124206000-124241800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:124206200-124237200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:124206400-124237600	Strong transcription	Adipose Nuclei	Adipose
30	chr12:124208000-124221400	Weak transcription	Small Intestine	intestine
31	chr12:124208600-124218600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:124208600-124221200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:124208600-124221400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:124208800-124221400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:124208800-124226200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:124208800-124244800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:124209000-124221400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:124209000-124226600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:124209200-124222200	Strong transcription	Left Ventricle	heart
40	chr12:124209200-124226600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:124209200-124226600	Strong transcription	Fetal Thymus	thymus
42	chr12:124209200-124236000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:124209200-124242600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:124209400-124221200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:124209400-124226600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:124209600-124224400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:124209800-124239600	Strong transcription	Brain Germinal Matrix	brain
48	chr12:124210000-124224400	Strong transcription	Colon Smooth Muscle	Colon
49	chr12:124210000-124230800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:124210600-124218800	Strong transcription	Primary B cells from cord blood	blood

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