Variant report

Variant	rs16888344
Chromosome Location	chr6:57013544-57013545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:57012033-57014304	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57012321..57014450-chr6:57048955..57051340,2	K562	blood:
2	chr6:56995928..56997999-chr6:57012848..57014485,2	K562	blood:
3	chr6:57011547..57015290-chr6:57018812..57021897,3	MCF-7	breast:
4	chr6:57004320..57006746-chr6:57012025..57013784,2	MCF-7	breast:
5	chr6:57011346..57014118-chr6:57035933..57038689,2	K562	blood:
6	chr6:57013120..57015063-chr6:57039695..57041831,2	MCF-7	breast:
7	chr6:57009034..57011540-chr6:57013395..57014899,2	K562	blood:

No data

Variant related genes	Relation type
ZNF451	TF binding region
ENSG00000226803	Chromatin interaction
ENSG00000112208	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16888323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4523090	1.00[AMR][1000 genomes]
rs4631287	1.00[AMR][1000 genomes]
rs6917939	0.83[AMR][1000 genomes]
rs7744148	1.00[AMR][1000 genomes]
rs7748120	1.00[AMR][1000 genomes]
rs7748453	1.00[AMR][1000 genomes]
rs7764446	1.00[AMR][1000 genomes]
rs9396256	1.00[AMR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56966800-57018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:56968200-57036400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
4	chr6:56985600-57036800	Weak transcription	Pancreas	Pancrea
5	chr6:56991600-57036600	Weak transcription	Small Intestine	intestine
6	chr6:56993000-57017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:56995800-57036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:56996000-57036800	Weak transcription	Gastric	stomach
9	chr6:56996200-57036600	Weak transcription	Fetal Brain Male	brain
10	chr6:56996400-57036600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:56998800-57027400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:56999800-57036600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:57001200-57036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:57001800-57018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:57002600-57036600	Weak transcription	A549	lung
16	chr6:57005600-57013600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:57005600-57021600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:57005600-57023400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:57005600-57023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:57005800-57022400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:57006200-57028600	Strong transcription	Liver	Liver
22	chr6:57006600-57013800	Strong transcription	Adipose Nuclei	Adipose
23	chr6:57006600-57021600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:57006600-57036600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:57007400-57017000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:57007600-57014200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:57007600-57018400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:57008000-57017800	Weak transcription	Brain Substantia Nigra	brain
29	chr6:57008400-57022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:57008600-57018600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:57009000-57017200	Weak transcription	Fetal Brain Female	brain
32	chr6:57009400-57013600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:57009600-57016000	Weak transcription	Fetal Stomach	stomach
34	chr6:57009800-57018000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:57009800-57018000	Weak transcription	Fetal Intestine Small	intestine
36	chr6:57010000-57021400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:57010600-57014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:57010800-57024600	Strong transcription	Primary B cells from cord blood	blood
39	chr6:57011400-57013600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr6:57011400-57014000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:57011400-57014200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:57011400-57020000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:57011400-57020000	Strong transcription	HepG2	liver
44	chr6:57011400-57021400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:57011400-57036600	Weak transcription	Stomach Mucosa	stomach
46	chr6:57011600-57013600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:57011600-57013600	Strong transcription	HSMM	muscle
48	chr6:57011600-57013800	Strong transcription	Fetal Thymus	thymus
49	chr6:57011600-57014000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:57011600-57014400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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