Variant report

Variant	rs28653214
Chromosome Location	chr4:87966684-87966685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr4:87966675-87967329	SH-SY5Y	brain:	n/a	n/a
2	TBL1XR1	chr4:87965898-87966744	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87965831..87967908-chr4:87968487..87970739,2	MCF-7	breast:
2	chr4:87965986..87967736-chr4:87989394..87991945,2	K562	blood:
3	chr4:87960365..87962821-chr4:87965345..87969600,5	K562	blood:
4	chr4:87925370..87929364-chr4:87963200..87966939,5	K562	blood:
5	chr4:87964446..87966356-chr4:87966393..87968677,2	MCF-7	breast:
6	chr4:87963284..87965045-chr4:87965190..87967797,2	K562	blood:
7	chr4:87963142..87968842-chr4:87969641..87976222,9	K562	blood:
8	chr4:87965646..87968151-chr4:87970035..87972421,2	K562	blood:
9	chr4:87926139..87929364-chr4:87964361..87966939,5	K562	blood:

No data

Variant related genes	Relation type
AFF1	TF binding region
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28608199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28865380	0.86[EUR][1000 genomes]
rs7691435	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:87958800-87968000	Weak transcription	Esophagus	oesophagus
5	chr4:87959200-87967000	Weak transcription	Dnd41	blood
6	chr4:87959600-87967200	Enhancers	Psoas Muscle	Psoas
7	chr4:87960400-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
9	chr4:87960800-87968000	Weak transcription	HSMM	muscle
10	chr4:87961000-87979200	Weak transcription	HSMMtube	muscle
11	chr4:87961200-87967800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:87962400-87967000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:87962400-87967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:87962400-87967400	Enhancers	Right Ventricle	heart
15	chr4:87963200-87967200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:87963400-87966800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:87963400-87967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:87963400-87967200	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:87963600-87967400	Enhancers	Pancreas	Pancrea
21	chr4:87963600-87967600	Enhancers	Fetal Heart	heart
22	chr4:87963800-87968000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:87964000-87967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:87964000-87967200	Enhancers	Lung	lung
25	chr4:87964200-87968000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:87964600-87966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:87964600-87967000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:87964600-87967000	Weak transcription	Spleen	Spleen
29	chr4:87964600-87967400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr4:87964600-87967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:87964600-87968000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:87964600-87968000	Weak transcription	Gastric	stomach
33	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
34	chr4:87964800-87967200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:87964800-87979200	Weak transcription	A549	lung
36	chr4:87965200-87968000	Enhancers	Liver	Liver
37	chr4:87965400-87967000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:87965400-87967000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:87965400-87967000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:87965400-87967200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:87965400-87967400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:87965400-87967400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:87965400-87967400	Enhancers	Fetal Stomach	stomach
44	chr4:87965400-87967400	Genic enhancers	Fetal Thymus	thymus
45	chr4:87965600-87966800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:87965600-87967200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:87965600-87967200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:87965600-87967200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:87965600-87967200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr4:87965600-87967400	Enhancers	Brain Anterior Caudate	brain

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