Variant report

Variant	rs4733754
Chromosome Location	chr8:130986248-130986249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr8:130985458-130986262	K562	blood:	n/a	n/a
2	TBP	chr8:130985750-130986249	K562	blood:	n/a	n/a
3	ZC3H11A	chr8:130985918-130986495	K562	blood:	n/a	n/a
4	MAZ	chr8:130985555-130986502	K562	blood:	n/a	n/a
5	BHLHE40	chr8:130985611-130986443	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:130984372..130987995-chr8:130999430..131001156,3	K562	blood:
2	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:
3	chr8:130973733..130976388-chr8:130984110..130986683,2	K562	blood:

No data

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10107362	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12541347	0.80[CHB][hapmap]
rs12550248	0.86[CHB][hapmap]
rs13273700	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1563167	0.80[CHB][hapmap]
rs16904181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4733757	0.81[CHB][hapmap]
rs6470787	0.97[ASN][1000 genomes]
rs6470789	0.80[CHB][hapmap]
rs7003672	0.81[CHB][hapmap]
rs7016267	0.81[CHB][hapmap]
rs7357390	0.85[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7388128	0.81[CHB][hapmap]
rs749029	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7823995	0.85[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs837231	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs874579	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs882446	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes];0.80[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
2	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
3	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:130982600-130988200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:130983000-130986400	Enhancers	Adipose Nuclei	Adipose
6	chr8:130983200-130986400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:130983200-130987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:130983200-130989600	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:130983400-130986400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:130983400-130986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:130983400-130986400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr8:130983600-130986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:130983800-130986400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:130984000-130986400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:130984000-130986600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:130984000-130986600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:130984000-130988400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:130984200-130986400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:130984400-130986400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:130984400-130986400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:130984400-130986400	Enhancers	Placenta	Placenta
22	chr8:130984400-130986400	Enhancers	Fetal Thymus	thymus
23	chr8:130984400-130986600	Enhancers	Spleen	Spleen
24	chr8:130984600-130986400	Enhancers	Brain Substantia Nigra	brain
25	chr8:130984600-130986600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:130984600-130987600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:130984600-130987800	Weak transcription	HSMM	muscle
28	chr8:130984600-130988200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:130984600-130988400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:130984600-130989200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:130984800-130986400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:130984800-130987400	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:130984800-130987800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:130984800-130988000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:130984800-130989600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:130984800-130990800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:130985000-130986400	Enhancers	Gastric	stomach
38	chr8:130985000-130986800	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:130985000-130989000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:130985000-130989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:130985000-130992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:130985000-130995800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:130985000-130995800	Weak transcription	Left Ventricle	heart
44	chr8:130985000-130995800	Weak transcription	Right Atrium	heart
45	chr8:130985200-130986600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:130985200-130988200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:130985200-130989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:130985200-130989600	Enhancers	Primary T cells from cord blood	blood
49	chr8:130985200-130989600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:130985200-130991200	Enhancers	Primary T helper cells PMA-I stimulated	--

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