Variant report

Variant	rs9321953
Chromosome Location	chr6:144289022-144289023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:144289009-144289595	K562	blood:	n/a	chr6:144289480-144289491 chr6:144289462-144289475 chr6:144289462-144289473
2	ZNF384	chr6:144288841-144289282	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144286646..144289265-chr6:144304089..144305699,2	K562	blood:

Variant related genes	Relation type
PLAGL1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13218225	1.00[YRI][hapmap]
rs2092894	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224152	0.93[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2268448	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7770529	1.00[YRI][hapmap]
rs9321956	0.93[EUR][1000 genomes]
rs9373409	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9386053	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs9390147	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390148	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390150	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs9399468	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9403540	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
2	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
3	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:144269800-144289800	Weak transcription	Ovary	ovary
5	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
8	chr6:144274400-144289800	Weak transcription	Esophagus	oesophagus
9	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
11	chr6:144280200-144290400	Weak transcription	Fetal Heart	heart
12	chr6:144280400-144291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:144281800-144294800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:144284600-144290600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:144284800-144294400	Weak transcription	Fetal Brain Male	brain
16	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
17	chr6:144285000-144292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:144285400-144291400	Weak transcription	Colonic Mucosa	Colon
19	chr6:144285400-144294200	Weak transcription	Left Ventricle	heart
20	chr6:144285800-144293400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:144286000-144290400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:144286200-144289800	Weak transcription	Right Atrium	heart
23	chr6:144286600-144290000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:144286800-144290400	Strong transcription	Fetal Intestine Large	intestine
25	chr6:144286800-144294200	Weak transcription	Fetal Brain Female	brain
26	chr6:144287000-144289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:144287000-144290600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:144287000-144293000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:144287000-144294400	Weak transcription	Lung	lung
30	chr6:144287000-144294800	Weak transcription	Spleen	Spleen
31	chr6:144287000-144298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:144287200-144290800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:144287200-144293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:144287200-144293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:144287200-144293400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:144287400-144289800	Weak transcription	GM12878-XiMat	blood
37	chr6:144287400-144289800	Weak transcription	K562	blood
38	chr6:144287400-144291000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:144287400-144294600	Enhancers	Adipose Nuclei	Adipose
40	chr6:144287600-144289200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:144287600-144297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:144287800-144289200	Weak transcription	Osteobl	bone
43	chr6:144287800-144292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:144288200-144290200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr6:144288200-144293400	Weak transcription	NHDF-Ad	bronchial
46	chr6:144288400-144289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:144288400-144290200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:144288400-144291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:144288400-144314800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:144288800-144289800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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