Variant report

Variant	rs11861246
Chromosome Location	chr16:70468237-70468238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70466045..70468508-chr16:70488905..70490964,2	K562	blood:
2	chr16:70467847..70470398-chr16:70470451..70473033,2	MCF-7	breast:
3	chr16:70446187..70457827-chr16:70459568..70470659,26	K562	blood:
4	chr16:70466962..70468618-chr16:70485808..70488456,2	K562	blood:
5	chr16:70414339..70417004-chr16:70465838..70469101,3	MCF-7	breast:
6	chr16:70414402..70416490-chr16:70467448..70469871,2	K562	blood:
7	chr16:70461008..70469152-chr16:70556160..70559876,10	K562	blood:

Variant related genes	Relation type
ENSG00000157353	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157350	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11865368	0.87[AFR][1000 genomes]
rs11865863	0.84[AFR][1000 genomes]
rs11867150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970135	0.87[AFR][1000 genomes]
rs16970154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187719	0.84[AFR][1000 genomes]
rs7193168	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
2	chr16:70458000-70468400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:70460800-70469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:70461000-70468400	Enhancers	Placenta	Placenta
5	chr16:70461800-70468800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:70462600-70469200	Enhancers	NHDF-Ad	bronchial
7	chr16:70463000-70468400	Weak transcription	Fetal Brain Male	brain
8	chr16:70463800-70468600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:70464000-70469200	Genic enhancers	Fetal Stomach	stomach
10	chr16:70465000-70469200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr16:70465400-70468600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:70465400-70468600	Enhancers	Primary hematopoietic stem cells	blood
13	chr16:70465400-70469200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr16:70465400-70469200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:70465400-70470600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:70465400-70471600	Weak transcription	Pancreas	Pancrea
17	chr16:70465600-70469200	Enhancers	Primary B cells from peripheral blood	blood
18	chr16:70465600-70470400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:70466000-70469200	Enhancers	Left Ventricle	heart
20	chr16:70466000-70469200	Enhancers	Right Atrium	heart
21	chr16:70466000-70469400	Enhancers	Right Ventricle	heart
22	chr16:70466200-70468400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:70466200-70469200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr16:70466400-70468400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:70466400-70468400	Enhancers	HMEC	breast
26	chr16:70466400-70468400	Enhancers	NHLF	lung
27	chr16:70466400-70468600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:70466400-70468600	Enhancers	Brain Angular Gyrus	brain
29	chr16:70466400-70468800	Enhancers	Liver	Liver
30	chr16:70466400-70468800	Enhancers	Gastric	stomach
31	chr16:70466400-70469000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:70466400-70469000	Enhancers	Brain Anterior Caudate	brain
33	chr16:70466400-70469200	Enhancers	Psoas Muscle	Psoas
34	chr16:70466600-70468400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr16:70466600-70468600	Enhancers	Ovary	ovary
36	chr16:70466600-70469000	Enhancers	Lung	lung
37	chr16:70466800-70468400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:70466800-70470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr16:70467000-70468400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:70467000-70468600	Enhancers	Colon Smooth Muscle	Colon
41	chr16:70467000-70469200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:70467000-70469400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr16:70467000-70470800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:70467200-70468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:70467200-70468600	Enhancers	A549	lung
46	chr16:70467200-70469000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:70467200-70469200	Enhancers	Fetal Heart	heart
48	chr16:70467200-70469200	Genic enhancers	Dnd41	blood
49	chr16:70467200-70469200	Genic enhancers	HepG2	liver
50	chr16:70467200-70470400	Weak transcription	H9 Cell Line	embryonic stem cell

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