Variant report

Variant	rs16970543
Chromosome Location	chr16:70814358-70814359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70711108..70713141-chr16:70812464..70814628,2	MCF-7	breast:
2	chr16:70779061..70782621-chr16:70813040..70815822,4	MCF-7	breast:
3	chr16:70812401..70816023-chr16:70816890..70820211,3	K562	blood:
4	chr16:70813286..70815646-chr16:70820234..70822651,2	K562	blood:
5	chr16:70814166..70816406-chr16:70822559..70825300,2	MCF-7	breast:
6	chr16:70808973..70811179-chr16:70813067..70815044,2	K562	blood:
7	chr16:70813607..70816328-chr16:70818266..70819889,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11862431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866379	0.82[YRI][hapmap]
rs13339302	1.00[MEX][hapmap]
rs16970545	1.00[ASW][hapmap];0.92[LWK][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61075342	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747638	0.81[AFR][1000 genomes]
rs7185218	0.93[AFR][1000 genomes]
rs7190628	0.92[YRI][hapmap]
rs7192013	0.84[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap]
rs7199602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
8	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr16:70794600-70816400	Weak transcription	Small Intestine	intestine
12	chr16:70795800-70814400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:70802400-70814400	Weak transcription	Stomach Mucosa	stomach
15	chr16:70802400-70825000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:70805000-70815400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
18	chr16:70806200-70814400	Weak transcription	Brain Substantia Nigra	brain
19	chr16:70806400-70814400	Weak transcription	Psoas Muscle	Psoas
20	chr16:70807000-70815800	Weak transcription	K562	blood
21	chr16:70807200-70815400	Strong transcription	Fetal Intestine Small	intestine
22	chr16:70807400-70833800	Weak transcription	Fetal Brain Male	brain
23	chr16:70808200-70822400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:70809000-70820400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:70809200-70820800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr16:70809400-70815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:70809400-70815200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:70809600-70815000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:70809800-70820600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr16:70810400-70815800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:70811000-70815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:70811000-70820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:70811000-70820200	Strong transcription	Brain Hippocampus Middle	brain
34	chr16:70811000-70820400	Strong transcription	Liver	Liver
35	chr16:70811000-70821400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:70811000-70822800	Strong transcription	Fetal Intestine Large	intestine
37	chr16:70811000-70823000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:70811200-70815600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:70811200-70816000	Strong transcription	Dnd41	blood
40	chr16:70811200-70816600	Strong transcription	Spleen	Spleen
41	chr16:70811200-70820800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:70811200-70821000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr16:70811200-70821200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:70811200-70822600	Strong transcription	Fetal Thymus	thymus
45	chr16:70811200-70823000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:70811400-70815200	Strong transcription	Thymus	Thymus
47	chr16:70811400-70815400	Strong transcription	GM12878-XiMat	blood
48	chr16:70811400-70820400	Strong transcription	Brain Angular Gyrus	brain
49	chr16:70811400-70820400	Strong transcription	Brain Anterior Caudate	brain
50	chr16:70811400-70820400	Strong transcription	Left Ventricle	heart

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