Variant report

Variant	rs55925555
Chromosome Location	chr16:70832545-70832546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70819115..70820995-chr16:70831626..70833451,2	K562	blood:
2	chr16:70832067..70833569-chr16:70833602..70835728,2	MCF-7	breast:
3	chr16:70811715..70814329-chr16:70831689..70834384,2	MCF-7	breast:
4	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57111803	0.92[AFR][1000 genomes]
rs57875748	0.96[AFR][1000 genomes]
rs61756217	1.00[AMR][1000 genomes]
rs7200463	0.83[AFR][1000 genomes]
rs74024453	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024455	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024461	0.87[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
2	chr16:70807400-70833800	Weak transcription	Fetal Brain Male	brain
3	chr16:70817400-70832600	Weak transcription	Small Intestine	intestine
4	chr16:70818000-70833000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:70818200-70832600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70818400-70832600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:70818400-70833400	Weak transcription	HUVEC	blood vessel
8	chr16:70819000-70833400	Weak transcription	K562	blood
9	chr16:70819200-70833000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:70819400-70832800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:70819400-70833600	Weak transcription	NHDF-Ad	bronchial
12	chr16:70819400-70833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:70819800-70833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:70820000-70833400	Weak transcription	HSMMtube	muscle
15	chr16:70820200-70833200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:70820200-70833200	Weak transcription	Brain Substantia Nigra	brain
17	chr16:70820200-70833400	Weak transcription	Esophagus	oesophagus
18	chr16:70820200-70833400	Weak transcription	NHLF	lung
19	chr16:70820200-70833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:70820200-70833800	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:70820200-70834000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:70820400-70832600	Weak transcription	Brain Anterior Caudate	brain
23	chr16:70820400-70833000	Weak transcription	HMEC	breast
24	chr16:70820400-70833200	Weak transcription	Brain Angular Gyrus	brain
25	chr16:70820400-70833800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70820400-70834000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:70820400-70834000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:70820400-70834200	Weak transcription	Colonic Mucosa	Colon
29	chr16:70820400-70834200	Weak transcription	Left Ventricle	heart
30	chr16:70820400-70834200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:70820400-70834400	Weak transcription	Aorta	Aorta
32	chr16:70820600-70833400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:70820600-70833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:70820600-70833600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:70820600-70833600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:70820800-70832800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:70820800-70833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:70820800-70833200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:70820800-70833400	Weak transcription	NHEK	skin
40	chr16:70820800-70833600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:70820800-70834200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:70821000-70833000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:70821000-70833200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:70821200-70833000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:70821200-70834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:70821800-70833400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:70821800-70833600	Weak transcription	Right Ventricle	heart
48	chr16:70822400-70834200	Weak transcription	Placenta	Placenta
49	chr16:70823000-70832600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:70823000-70833200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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