Variant report

Variant	rs12129504
Chromosome Location	chr1:184384851-184384852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184355971..184358114-chr1:184383232..184386102,2	MCF-7	breast:
2	chr1:184359142..184361251-chr1:184383132..184386323,3	MCF-7	breast:
3	chr1:184381750..184385385-chr1:184386207..184390110,5	MCF-7	breast:
4	chr1:184351733..184358362-chr1:184383188..184389399,8	MCF-7	breast:
5	chr1:184384049..184385572-chr1:184391897..184393944,2	K562	blood:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

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

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

rs_ID	r²[population]
rs10911597	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799574	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12123538	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12128343	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12128424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130008	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12131730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12135850	0.97[EUR][1000 genomes]
rs12136470	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12138263	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12142338	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142568	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12142676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145326	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13374592	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16823133	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17577247	1.00[CEU][hapmap]
rs2224029	0.97[EUR][1000 genomes]
rs41263668	0.82[EUR][1000 genomes]
rs56173711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59688287	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs60650088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73063509	0.97[EUR][1000 genomes]
rs74131663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74131671	0.97[EUR][1000 genomes]
rs74131672	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131673	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970469	1.00[CEU][hapmap]

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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:184360600-184386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:184362600-184386200	Weak transcription	Lung	lung
4	chr1:184377400-184387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:184377800-184385800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:184377800-184387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:184378000-184395600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:184378200-184387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
10	chr1:184378400-184385800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:184378400-184386200	Weak transcription	Right Atrium	heart
12	chr1:184378400-184388200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:184378400-184394200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:184378400-184397400	Weak transcription	Ovary	ovary
15	chr1:184378600-184385600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:184378600-184385600	Weak transcription	NHLF	lung
17	chr1:184378600-184386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:184378600-184388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:184378800-184388200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:184378800-184388200	Weak transcription	NHDF-Ad	bronchial
21	chr1:184378800-184389000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:184379000-184385800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:184379000-184386200	Weak transcription	Left Ventricle	heart
24	chr1:184379000-184393000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:184381400-184385600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:184382800-184386000	Weak transcription	Right Ventricle	heart
27	chr1:184383400-184386400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:184383600-184394200	Weak transcription	Spleen	Spleen
29	chr1:184383800-184385600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:184383800-184387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
32	chr1:184384000-184389600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:184384200-184385800	Enhancers	NHEK	skin
34	chr1:184384200-184386000	Enhancers	HMEC	breast
35	chr1:184384200-184386800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:184384400-184385400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:184384400-184385800	Weak transcription	Psoas Muscle	Psoas
38	chr1:184384400-184387000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:184384400-184387000	Weak transcription	Esophagus	oesophagus
40	chr1:184384400-184392000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:184384600-184385200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:184384600-184385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:184384600-184389800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:184384800-184385000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr1:184384800-184385200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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