Variant report

Variant	rs1446979
Chromosome Location	chr2:173849490-173849491
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173849114..173850688-chr2:173850735..173852782,2	K562	blood:
2	chr2:173848627..173852133-chr2:173863177..173865329,4	MCF-7	breast:
3	chr2:173844924..173850688-chr2:173851282..173855756,6	K562	blood:
4	chr2:173848162..173850898-chr2:173858454..173860280,2	MCF-7	breast:
5	chr2:173849354..173852622-chr2:173856420..173860174,4	K562	blood:
6	chr2:173843570..173846264-chr2:173848110..173849816,3	K562	blood:
7	chr2:173846731..173848275-chr2:173848312..173850706,2	K562	blood:
8	chr2:173849142..173852598-chr2:173855356..173861233,5	MCF-7	breast:
9	chr2:173848593..173850248-chr2:173906462..173908471,2	MCF-7	breast:
10	chr2:173847799..173849946-chr2:173883795..173886644,2	MCF-7	breast:
11	chr2:173838607..173842976-chr2:173848438..173851310,4	MCF-7	breast:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1446980	0.90[AMR][1000 genomes]
rs16861061	1.00[EUR][1000 genomes]
rs16861147	1.00[EUR][1000 genomes]
rs16861224	1.00[EUR][1000 genomes]
rs16861293	1.00[EUR][1000 genomes]
rs1823153	1.00[AMR][1000 genomes]
rs2042565	0.83[AMR][1000 genomes]
rs2123506	0.90[AMR][1000 genomes]
rs2592940	0.80[AMR][1000 genomes]
rs2592945	0.90[AMR][1000 genomes]
rs2676503	0.90[AMR][1000 genomes]
rs2676516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5010643	1.00[EUR][1000 genomes]
rs6714475	1.00[EUR][1000 genomes]
rs73019614	1.00[EUR][1000 genomes]
rs874779	1.00[EUR][1000 genomes]
rs930624	0.90[AMR][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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173832200-173850000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173832600-173850200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:173833800-173855600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:173833800-173859000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
6	chr2:173834200-173855800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:173835800-173886800	Weak transcription	Lung	lung
8	chr2:173842400-173850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:173842600-173850000	Weak transcription	Fetal Heart	heart
10	chr2:173842800-173855800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:173843200-173850000	Weak transcription	Left Ventricle	heart
12	chr2:173843200-173850000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:173843200-173861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:173843400-173858200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:173843600-173850400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:173844200-173850000	Weak transcription	Liver	Liver
17	chr2:173845400-173853200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:173847800-173851800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:173848000-173851000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:173848600-173849800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:173848800-173854400	Weak transcription	Ovary	ovary
22	chr2:173849000-173850400	Strong transcription	Fetal Stomach	stomach
23	chr2:173849200-173849800	Enhancers	Hela-S3	cervix
24	chr2:173849200-173850200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:173849400-173850000	Enhancers	Thymus	Thymus
26	chr2:173849400-173850000	Enhancers	A549	lung
27	chr2:173849400-173850600	Enhancers	Fetal Thymus	thymus

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