Variant report

Variant	rs1982421
Chromosome Location	chr16:80752493-80752494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80740866..80745850-chr16:80746158..80752647,10	MCF-7	breast:
2	chr16:80752468..80754903-chr16:80836193..80838722,3	MCF-7	breast:
3	chr16:80559326..80561966-chr16:80751074..80753973,2	MCF-7	breast:
4	chr16:80713625..80716646-chr16:80751671..80755053,3	MCF-7	breast:
5	chr16:80653017..80657135-chr16:80751314..80754331,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153186	0.83[AMR][1000 genomes]
rs12051499	0.82[JPT][hapmap]
rs13380627	0.83[AMR][1000 genomes]
rs16953969	0.82[JPT][hapmap]
rs7190322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193379	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs8053926	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr16:80744000-80753400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr16:80745200-80753400	Weak transcription	Primary T cells from cord blood	blood
3	chr16:80750000-80753400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:80750600-80753400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:80751000-80753000	Enhancers	Pancreas	Pancrea
6	chr16:80751400-80752600	Enhancers	Fetal Intestine Large	intestine
7	chr16:80751400-80753000	Enhancers	Liver	Liver
8	chr16:80751600-80753000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr16:80751800-80752800	Enhancers	Gastric	stomach
10	chr16:80751800-80752800	Enhancers	Small Intestine	intestine
11	chr16:80751800-80753000	Enhancers	Lung	lung
12	chr16:80751800-80754600	Enhancers	Spleen	Spleen
13	chr16:80751800-80755200	Genic enhancers	Hela-S3	cervix
14	chr16:80751800-80755600	Enhancers	HUVEC	blood vessel
15	chr16:80752000-80752800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr16:80752000-80753200	Enhancers	Duodenum Mucosa	Duodenum
17	chr16:80752200-80752600	Weak transcription	NHDF-Ad	bronchial
18	chr16:80752200-80752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:80752200-80753200	Enhancers	Placenta	Placenta
20	chr16:80752400-80752800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr16:80752400-80752800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:80752400-80752800	Enhancers	Brain Anterior Caudate	brain
23	chr16:80752400-80752800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:80752400-80753200	Enhancers	Right Atrium	heart
25	chr16:80752400-80753200	Enhancers	HSMM	muscle
26	chr16:80752400-80753400	Enhancers	Fetal Muscle Leg	muscle
27	chr16:80752400-80753800	Enhancers	Left Ventricle	heart

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