Variant report

Variant	rs61610761
Chromosome Location	chr16:70488828-70488829
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70486960..70490351-chr16:70556167..70558867,5	MCF-7	breast:
2	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
3	chr16:70379511..70381084-chr16:70487337..70489597,2	MCF-7	breast:
4	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:
5	chr16:70449957..70452277-chr16:70488637..70490300,2	K562	blood:
6	chr16:70487960..70489638-chr16:70506359..70508682,2	MCF-7	breast:
7	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
8	chr16:70426189..70427824-chr16:70487935..70489664,2	MCF-7	breast:
9	chr16:70390592..70393385-chr16:70487447..70489700,3	MCF-7	breast:
10	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
11	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
12	chr16:70488713..70490555-chr16:70542927..70545450,2	K562	blood:
13	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
14	chr16:70486101..70489000-chr16:70557661..70559379,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168872	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11860625	1.00[AMR][1000 genomes]
rs17879102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57326693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57525508	0.85[AMR][1000 genomes]
rs58592676	1.00[AMR][1000 genomes]
rs60939494	0.85[AMR][1000 genomes]
rs74024201	0.83[AMR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049316	1.00[AMR][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70487200-70489400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:70487400-70489000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:70487400-70489000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:70487400-70489200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:70487400-70489200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr16:70487400-70489200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:70487400-70489200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:70487400-70489200	Active TSS	Colonic Mucosa	Colon
9	chr16:70487400-70489200	Active TSS	Rectal Smooth Muscle	rectum
10	chr16:70487400-70489400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr16:70487400-70489400	Active TSS	A549	lung
12	chr16:70487600-70489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:70487600-70489000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:70487600-70489000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr16:70487600-70489000	Active TSS	Fetal Muscle Trunk	muscle
16	chr16:70487600-70489000	Active TSS	Stomach Smooth Muscle	stomach
17	chr16:70487600-70489000	Active TSS	Thymus	Thymus
18	chr16:70487600-70489200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr16:70487600-70489200	Active TSS	Brain Angular Gyrus	brain
20	chr16:70487600-70489200	Active TSS	Duodenum Mucosa	Duodenum
21	chr16:70487600-70489200	Active TSS	Right Ventricle	heart
22	chr16:70487600-70489200	Active TSS	HSMMtube	muscle
23	chr16:70487600-70489400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr16:70487600-70489400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:70487600-70489400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:70487600-70489400	Active TSS	Fetal Brain Female	brain
27	chr16:70487600-70489400	Active TSS	Fetal Intestine Large	intestine
28	chr16:70487600-70489400	Active TSS	Fetal Kidney	kidney
29	chr16:70487600-70489400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr16:70487600-70489400	Active TSS	Psoas Muscle	Psoas
31	chr16:70487600-70489400	Active TSS	NHDF-Ad	bronchial
32	chr16:70487800-70489000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr16:70487800-70489000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:70487800-70489000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:70487800-70489000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr16:70487800-70489000	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr16:70487800-70489000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:70487800-70489000	Active TSS	Brain Hippocampus Middle	brain
39	chr16:70487800-70489000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:70487800-70489000	Active TSS	Fetal Brain Male	brain
41	chr16:70487800-70489000	Active TSS	Fetal Stomach	stomach
42	chr16:70487800-70489000	Active TSS	Stomach Mucosa	stomach
43	chr16:70487800-70489000	Active TSS	HSMM	muscle
44	chr16:70487800-70489200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:70487800-70489200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:70487800-70489200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:70487800-70489200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:70487800-70489200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:70487800-70489200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:70487800-70489200	Active TSS	Aorta	Aorta

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