Variant report

Variant	rs2179992
Chromosome Location	chr6:45927000-45927001
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	chr6:45919715..45922197-chr6:45926352..45928552,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16874013	1.00[ASN][1000 genomes]
rs16874019	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874029	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943199	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35376655	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35570290	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798264	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6916183	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6921488	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71566554	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381429	1.00[AFR][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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45912800-45928400	Weak transcription	Spleen	Spleen
2	chr6:45918800-45938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:45919600-45928000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:45920000-45927200	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:45920000-45927200	Weak transcription	Placenta	Placenta
6	chr6:45920000-45928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:45920000-45934800	Weak transcription	Colonic Mucosa	Colon
8	chr6:45921200-45928200	Weak transcription	Lung	lung
9	chr6:45923200-45927400	Weak transcription	Fetal Kidney	kidney
10	chr6:45923200-45929200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:45923200-45931200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:45924200-45928200	Weak transcription	Small Intestine	intestine
13	chr6:45924400-45931000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:45924600-45932400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:45924600-45934400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:45925200-45927200	Weak transcription	HSMMtube	muscle
17	chr6:45925400-45928200	Weak transcription	Left Ventricle	heart
18	chr6:45926000-45928200	Weak transcription	Right Atrium	heart
19	chr6:45926400-45928600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:45926800-45927000	Flanking Active TSS	Fetal Heart	heart
21	chr6:45926800-45927600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:45926800-45927600	Weak transcription	Fetal Lung	lung
23	chr6:45926800-45928200	Weak transcription	Right Ventricle	heart
24	chr6:45926800-45928600	Enhancers	HSMM	muscle
25	chr6:45926800-45935000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:45927000-45927200	Enhancers	Fetal Heart	heart

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