Variant report

Variant	rs393766
Chromosome Location	chr5:81049187-81049188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:81049110-81049690	K562	blood:	n/a	n/a
2	GATA1	chr5:81046891-81049399	PBDE	blood:	n/a	chr5:81048761-81048771 chr5:81048711-81048722
3	MYC	chr5:81049168-81049614	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:81045699..81050245-chr5:81142897..81150556,22	MCF-7	breast:
2	chr5:81047832..81049783-chr5:81150744..81153734,2	MCF-7	breast:
3	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
4	chr5:81047531..81050440-chr5:81268054..81269557,2	K562	blood:
5	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
6	chr5:81044026..81052051-chr5:81142054..81153115,35	K562	blood:
7	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:

No data

Variant related genes	Relation type
SSBP2	TF binding region
ENSG00000152348	Chromatin interaction
ENSG00000249483	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12186581	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13156146	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs13160079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34007998	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs371705	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs396231	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs398666	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs402061	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs402433	0.91[EUR][1000 genomes]
rs406283	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs421449	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs422523	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs424762	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs586695	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81047800-81051400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:81048000-81049800	Flanking Active TSS	K562	blood
3	chr5:81048000-81054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
5	chr5:81048200-81049200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:81048200-81049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:81048200-81049200	Enhancers	Fetal Heart	heart
8	chr5:81048200-81049400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:81048200-81049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:81048200-81049400	Enhancers	Thymus	Thymus
11	chr5:81048200-81049800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:81048200-81050000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:81048200-81050200	Weak transcription	HSMM	muscle
14	chr5:81048200-81050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:81048200-81051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:81048200-81051000	Weak transcription	Osteobl	bone
17	chr5:81048200-81051200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:81048200-81051200	Weak transcription	NH-A	brain
19	chr5:81048200-81051200	Weak transcription	NHLF	lung
20	chr5:81048200-81051400	Weak transcription	Fetal Intestine Small	intestine
21	chr5:81048200-81051400	Weak transcription	HSMMtube	muscle
22	chr5:81048200-81053200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:81048400-81049200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr5:81048400-81049200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:81048400-81050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:81048400-81050400	Weak transcription	HMEC	breast
27	chr5:81048400-81050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:81048400-81050600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:81048400-81050600	Weak transcription	NHDF-Ad	bronchial
30	chr5:81048400-81050600	Weak transcription	NHEK	skin
31	chr5:81048400-81051000	Enhancers	A549	lung
32	chr5:81048400-81051000	Weak transcription	HUVEC	blood vessel
33	chr5:81048400-81051200	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:81048400-81051200	Weak transcription	Fetal Lung	lung
35	chr5:81048400-81051200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:81048400-81051200	Weak transcription	Stomach Mucosa	stomach
37	chr5:81048400-81051200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:81048400-81051400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:81048400-81051400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:81048400-81051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:81048400-81051600	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:81048400-81051600	Weak transcription	Placenta	Placenta
43	chr5:81048400-81051600	Weak transcription	Psoas Muscle	Psoas
44	chr5:81048400-81052600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:81048400-81052800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:81048400-81053800	Weak transcription	Dnd41	blood
47	chr5:81048400-81055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:81048400-81056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:81048400-81056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:81048400-81060200	Weak transcription	Right Atrium	heart

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