Variant report

Variant	rs17880242
Chromosome Location	chr16:70509999-70510000
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	chr16:70509867..70512688-chr16:70534872..70536534,2	K562	blood:
2	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865368	1.00[AMR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs11865863	1.00[AMR][1000 genomes]
rs16970121	1.00[EUR][1000 genomes]
rs16970147	1.00[EUR][1000 genomes]
rs16970191	0.88[AFR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970331	1.00[AMR][1000 genomes]
rs16970335	1.00[AMR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17879608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881069	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17882800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs3852697	1.00[AMR][1000 genomes]
rs3852698	1.00[AMR][1000 genomes]
rs4999489	1.00[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499319	1.00[AMR][1000 genomes]
rs7187719	1.00[AMR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	1.00[EUR][1000 genomes]
rs7196295	1.00[AMR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199043	1.00[AMR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7206347	1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8044110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044956	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8058032	1.00[AMR][1000 genomes]
rs8062097	1.00[AMR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8064090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
9	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
10	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
12	chr16:70495200-70510200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:70495200-70510200	Weak transcription	Osteobl	bone
14	chr16:70495400-70510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:70495400-70510200	Weak transcription	HSMM	muscle
16	chr16:70495400-70510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
18	chr16:70497000-70510200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:70497200-70510600	Strong transcription	Lung	lung
20	chr16:70498000-70510200	Weak transcription	HSMMtube	muscle
21	chr16:70498000-70510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70498200-70510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
25	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
26	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr16:70501000-70510400	Weak transcription	Fetal Lung	lung
28	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
29	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
30	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
31	chr16:70501800-70510200	Weak transcription	Psoas Muscle	Psoas
32	chr16:70502800-70510800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:70503000-70512400	Strong transcription	Brain Hippocampus Middle	brain
34	chr16:70503400-70513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr16:70504200-70510400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr16:70504400-70535200	Strong transcription	Liver	Liver
40	chr16:70504600-70511000	Strong transcription	Colonic Mucosa	Colon
41	chr16:70505000-70510400	Strong transcription	Right Ventricle	heart
42	chr16:70505200-70512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:70505400-70510200	Weak transcription	HepG2	liver
44	chr16:70505400-70511000	Strong transcription	Spleen	Spleen
45	chr16:70505400-70511800	Weak transcription	Dnd41	blood
46	chr16:70505400-70512200	Weak transcription	Aorta	Aorta
47	chr16:70505800-70515600	Weak transcription	K562	blood
48	chr16:70506000-70510400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:70506000-70511200	Strong transcription	Brain Substantia Nigra	brain
50	chr16:70506000-70512400	Strong transcription	Adipose Nuclei	Adipose

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