Variant report

Variant	rs8049046
Chromosome Location	chr16:70512191-70512192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
2	chr16:70406308..70408837-chr16:70511303..70514267,2	MCF-7	breast:
3	chr16:70510715..70512361-chr16:70515275..70517741,2	MCF-7	breast:
4	chr16:70509867..70512688-chr16:70534872..70536534,2	K562	blood:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11860870	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs11862053	0.90[YRI][hapmap]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863943	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11864326	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866378	0.91[YRI][hapmap]
rs16970121	1.00[EUR][1000 genomes]
rs16970141	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970149	0.84[YRI][hapmap]
rs16970151	0.82[YRI][hapmap]
rs16970152	0.82[YRI][hapmap]
rs16970153	0.84[YRI][hapmap]
rs16970159	0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs16970165	0.82[YRI][hapmap]
rs16970169	0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970609	0.90[YRI][hapmap]
rs17878609	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs4999488	0.81[AFR][1000 genomes];0.81[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]
rs56043981	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56096542	1.00[AMR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57422630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58055772	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs59791510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.90[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60523557	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61266247	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	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	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7195104	0.84[YRI][hapmap]
rs7195567	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7198871	1.00[EUR][1000 genomes]
rs7199346	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203772	0.90[AMR][1000 genomes]
rs7205871	1.00[AMR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7205990	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];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]
rs74024199	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026033	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[EUR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046280	1.00[AMR][1000 genomes]
rs8046662	1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes]
rs8051869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053040	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053883	0.81[YRI][hapmap]
rs8054203	1.00[EUR][1000 genomes]
rs8056811	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062602	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8063749	0.91[YRI][hapmap]
rs8064090	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
6	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
7	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
9	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
10	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
11	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
12	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
13	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
14	chr16:70503000-70512400	Strong transcription	Brain Hippocampus Middle	brain
15	chr16:70503400-70513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:70504400-70535200	Strong transcription	Liver	Liver
20	chr16:70505400-70512200	Weak transcription	Aorta	Aorta
21	chr16:70505800-70515600	Weak transcription	K562	blood
22	chr16:70506000-70512400	Strong transcription	Adipose Nuclei	Adipose
23	chr16:70506000-70518200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr16:70506200-70515800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:70506200-70518800	Strong transcription	Brain Cingulate Gyrus	brain
26	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:70506400-70517400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
30	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr16:70506800-70518000	Strong transcription	Pancreas	Pancrea
32	chr16:70507000-70518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:70507000-70518800	Strong transcription	Fetal Brain Female	brain
34	chr16:70507000-70520400	Strong transcription	Brain Anterior Caudate	brain
35	chr16:70507600-70512400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:70507600-70512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:70508800-70514200	Genic enhancers	Placenta	Placenta
38	chr16:70509400-70513600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:70509400-70515400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:70509600-70512200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr16:70509600-70512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:70509600-70512800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:70509800-70512600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:70509800-70512800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:70509800-70513600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:70509800-70514000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr16:70509800-70516000	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:70510000-70513000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:70510600-70512200	Weak transcription	Esophagus	oesophagus
50	chr16:70510600-70512200	Enhancers	NHEK	skin

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