Variant report

Variant	rs6903518
Chromosome Location	chr6:20217654-20217655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:20217611-20218136	T-47D	breast:	n/a	n/a
2	GATA3	chr6:20217620-20218118	T-47D	breast:	n/a	n/a
3	IRF1	chr6:20217422-20217960	K562	blood:	n/a	n/a
4	GATA3	chr6:20217614-20218160	MCF-7	breast:	n/a	n/a
5	NFIC	chr6:20217488-20218091	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr6:20217462-20218200	ECC-1	luminal epithelium:	n/a	n/a
7	MAFK	chr6:20217624-20217711	K562	blood:	n/a	n/a
8	RCOR1	chr6:20217618-20218061	K562	blood:	n/a	n/a
9	IRF1	chr6:20217526-20217946	K562	blood:	n/a	n/a
10	ZNF384	chr6:20217522-20217699	K562	blood:	n/a	n/a
11	JUN	chr6:20217561-20217754	K562	blood:	n/a	n/a
12	ZNF143	chr6:20217539-20217703	K562	blood:	n/a	n/a
13	SPI1	chr6:20217442-20217768	HL-60	blood:	n/a	n/a
14	TEAD4	chr6:20217468-20218053	K562	blood:	n/a	n/a
15	EP300	chr6:20217607-20218209	T-47D	breast:	n/a	n/a
16	MYC	chr6:20217644-20217811	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:20211598..20216001-chr6:20216238..20220136,10	K562	blood:
2	chr6:20216776..20219690-chr6:20224982..20227317,2	MCF-7	breast:
3	chr6:20217096..20219531-chr6:20220543..20223261,2	MCF-7	breast:
4	chr6:20215918..20219378-chr6:20401289..20404111,5	K562	blood:

No data

Variant related genes	Relation type
MBOAT1	TF binding region
ENSG00000172197	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000227803	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2328392	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435633	1.00[EUR][1000 genomes]
rs61111889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61737148	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6907839	1.00[EUR][1000 genomes]
rs9465658	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9767715	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9767716	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029729	chr6:20113226-20235122	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538155	chr6:20113226-20235122	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1027355	chr6:20207893-20261048	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1027220	chr6:20213667-20258103	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1028657	chr6:20215081-20258103	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:20214000-20217800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:20214000-20217800	Weak transcription	Pancreas	Pancrea
3	chr6:20214200-20217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:20214200-20217800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:20214200-20218000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:20214200-20221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:20216600-20218200	Enhancers	Fetal Intestine Large	intestine
8	chr6:20216600-20218400	Enhancers	Left Ventricle	heart
9	chr6:20216600-20218400	Enhancers	K562	blood
10	chr6:20216800-20218200	Enhancers	Fetal Intestine Small	intestine
11	chr6:20216800-20218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:20216800-20218400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:20217000-20218000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:20217000-20218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:20217000-20218200	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:20217000-20218200	Enhancers	Stomach Mucosa	stomach
17	chr6:20217000-20218400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:20217000-20218400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:20217000-20218400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:20217000-20218400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:20217000-20218400	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:20217000-20218400	Enhancers	NHEK	skin
23	chr6:20217200-20217800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:20217200-20218400	Enhancers	Right Atrium	heart
25	chr6:20217400-20218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:20217600-20217800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:20217600-20217800	Enhancers	Colon Smooth Muscle	Colon
28	chr6:20217600-20217800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:20217600-20217800	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:20217600-20218000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:20217600-20218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:20217600-20218200	Enhancers	Right Ventricle	heart
33	chr6:20217600-20218200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr6:20217600-20218200	Enhancers	HMEC	breast
35	chr6:20217600-20218400	Enhancers	Adipose Nuclei	Adipose
36	chr6:20217600-20218400	Enhancers	Brain Anterior Caudate	brain
37	chr6:20217600-20218400	Enhancers	Brain Hippocampus Middle	brain
38	chr6:20217600-20218400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:20217600-20218400	Enhancers	Lung	lung
40	chr6:20217600-20218400	Enhancers	Ovary	ovary
41	chr6:20217600-20218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:20217600-20218600	Enhancers	Brain Substantia Nigra	brain
43	chr6:20217600-20218600	Flanking Active TSS	Fetal Heart	heart
44	chr6:20217600-20219200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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