Variant report

Variant	rs13332431
Chromosome Location	chr16:70495785-70495786
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70495439..70497105-chr16:70502567..70504359,2	K562	blood:
2	chr16:70495605..70497210-chr16:70502567..70505009,2	K562	blood:
3	chr16:70485245..70488072-chr16:70494392..70496535,2	K562	blood:
4	chr16:70488573..70491549-chr16:70492928..70496416,4	K562	blood:
5	chr16:70414009..70416973-chr16:70493742..70498097,6	MCF-7	breast:
6	chr16:70494008..70496807-chr2:138724427..138726798,2	MCF-7	breast:
7	chr16:70448317..70451152-chr16:70495785..70498499,2	K562	blood:
8	chr16:70495074..70498358-chr16:70501504..70504908,3	MCF-7	breast:
9	chr16:70425984..70427515-chr16:70495359..70497287,2	MCF-7	breast:
10	chr16:70413317..70415893-chr16:70494753..70497211,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157353	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11863394	0.84[AMR][1000 genomes]
rs13338441	0.84[AMR][1000 genomes]
rs16970240	1.00[TSI][hapmap]
rs16970253	1.00[TSI][hapmap]
rs16970260	1.00[TSI][hapmap]
rs17878599	1.00[CHB][hapmap]
rs17879275	1.00[TSI][hapmap]
rs17881316	1.00[TSI][hapmap]
rs17881323	1.00[CHB][hapmap]
rs17883248	1.00[CHB][hapmap]
rs17883716	1.00[CHB][hapmap]
rs17886060	1.00[CHB][hapmap]
rs58885322	0.85[AMR][1000 genomes]
rs61692284	0.85[AMR][1000 genomes]
rs7185462	0.85[AMR][1000 genomes]
rs7193228	1.00[TSI][hapmap]
rs8050782	0.85[AMR][1000 genomes]
rs8057327	1.00[TSI][hapmap]
rs8057732	1.00[TSI][hapmap]
rs8058754	1.00[TSI][hapmap]
rs9921410	1.00[EUR][1000 genomes]
rs9921696	1.00[TSI][hapmap]
rs9925510	1.00[TSI][hapmap]
rs9928617	1.00[TSI][hapmap]
rs9933510	0.84[AMR][1000 genomes]
rs9940353	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70497200	Weak transcription	Aorta	Aorta
2	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70489400-70495800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:70489400-70497000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr16:70489400-70497000	Weak transcription	Brain Anterior Caudate	brain
7	chr16:70489400-70497000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:70489400-70497000	Weak transcription	Thymus	Thymus
11	chr16:70489400-70497000	Weak transcription	NHLF	lung
12	chr16:70489400-70497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:70489400-70497200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:70489400-70497200	Weak transcription	Primary B cells from cord blood	blood
15	chr16:70489400-70497200	Weak transcription	Brain Angular Gyrus	brain
16	chr16:70489400-70497200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:70489400-70497200	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:70489400-70497200	Weak transcription	Colonic Mucosa	Colon
19	chr16:70489400-70497200	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:70489400-70497200	Weak transcription	Gastric	stomach
21	chr16:70489400-70497200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:70489400-70497200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:70489400-70497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:70489400-70497400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:70489400-70497400	Weak transcription	Ovary	ovary
26	chr16:70489400-70497600	Weak transcription	Esophagus	oesophagus
27	chr16:70489400-70497800	Weak transcription	Fetal Kidney	kidney
28	chr16:70489400-70500600	Weak transcription	Brain Germinal Matrix	brain
29	chr16:70489400-70500600	Weak transcription	Fetal Lung	lung
30	chr16:70489400-70504600	Weak transcription	A549	lung
31	chr16:70489400-70508800	Weak transcription	HMEC	breast
32	chr16:70489400-70509000	Weak transcription	NHEK	skin
33	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
42	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
43	chr16:70489600-70497200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:70489600-70497200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:70489600-70497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:70490000-70496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:70490000-70497200	Weak transcription	Pancreas	Pancrea
48	chr16:70490000-70497200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr16:70490000-70497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:70490200-70495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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