Variant report

Variant	rs28682439
Chromosome Location	chr8:130985233-130985234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:130984662-130985240	GM12892	blood:	n/a	n/a
2	TBP	chr8:130985118-130985286	K562	blood:	n/a	n/a
3	MAX	chr8:130984866-130985288	K562	blood:	n/a	chr8:130984993-130985003
4	ZNF143	chr8:130985209-130985325	Hela-S3	cervix:	n/a	n/a
5	MAX	chr8:130984905-130985259	K562	blood:	n/a	chr8:130984993-130985003
6	NR2F2	chr8:130984815-130986039	K562	blood:	n/a	n/a
7	KAP1	chr8:130983681-130985715	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
2	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:
3	chr8:130984372..130987995-chr8:130999430..131001156,3	K562	blood:
4	chr8:130983642..130985327-chr8:131033782..131036207,2	MCF-7	breast:
5	chr8:130949745..130951493-chr8:130983893..130985842,2	K562	blood:
6	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
7	chr8:130973733..130976388-chr8:130984110..130986683,2	K562	blood:

No data

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs16904182	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17194407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194571	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194770	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279655	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411256	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718397	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720304	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	0.80[EUR][1000 genomes]
rs7812685	1.00[ASN][1000 genomes]
rs7817091	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825122	1.00[ASN][1000 genomes]
rs7837729	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:130975200-130985600	Weak transcription	Liver	Liver
3	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
4	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
5	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:130982600-130985400	Weak transcription	Fetal Intestine Large	intestine
7	chr8:130982600-130988200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:130983000-130985800	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:130983000-130986400	Enhancers	Adipose Nuclei	Adipose
10	chr8:130983200-130986400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:130983200-130987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:130983200-130989600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:130983400-130986000	Enhancers	Brain Hippocampus Middle	brain
14	chr8:130983400-130986400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:130983400-130986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:130983400-130986400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr8:130983600-130985600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr8:130983600-130985600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:130983600-130986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:130983800-130985400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:130983800-130985400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr8:130983800-130985400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:130983800-130985600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:130983800-130985600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:130983800-130985600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:130983800-130985600	Enhancers	Brain Angular Gyrus	brain
27	chr8:130983800-130985600	Enhancers	Brain Anterior Caudate	brain
28	chr8:130983800-130985600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:130983800-130985800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:130983800-130985800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:130983800-130985800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:130983800-130985800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:130983800-130985800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr8:130983800-130985800	Enhancers	NHEK	skin
35	chr8:130983800-130986000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:130983800-130986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:130984000-130986400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:130984000-130986600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:130984000-130986600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:130984000-130988400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:130984200-130985400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:130984200-130986400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr8:130984400-130986000	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:130984400-130986200	Enhancers	Thymus	Thymus
45	chr8:130984400-130986400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:130984400-130986400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:130984400-130986400	Enhancers	Placenta	Placenta
48	chr8:130984400-130986400	Enhancers	Fetal Thymus	thymus
49	chr8:130984400-130986600	Enhancers	Spleen	Spleen
50	chr8:130984600-130985400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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