Variant report

Variant	rs62444966
Chromosome Location	chr6:86370390-86370391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:86369772-86370516	SK-N-SH	brain:	n/a	n/a
2	NFYB	chr6:86369900-86370428	K562	blood:	n/a	chr6:86370155-86370170
3	POLR2A	chr6:86370095-86370392	A549	lung:	n/a	n/a
4	RAD21	chr6:86369775-86370451	IMR90	lung:	n/a	n/a
5	TCF12	chr6:86369700-86370521	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr6:86369808-86370479	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr6:86369706-86370499	IMR90	lung:	n/a	n/a
8	MXI1	chr6:86369532-86370745	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr6:86369903-86370421	HCT-116	colon:	n/a	n/a
10	POLR2A	chr6:86369872-86370504	IMR90	lung:	n/a	n/a
11	MAX	chr6:86369792-86370488	SK-N-SH	brain:	n/a	n/a
12	MAZ	chr6:86369738-86370605	IMR90	lung:	n/a	n/a
13	POLR2A	chr6:86369779-86370462	U87	brain:	n/a	n/a
14	MXI1	chr6:86369738-86370501	IMR90	lung:	n/a	n/a
15	TBP	chr6:86369797-86370401	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:86369884-86370464	HCT-116	colon:	n/a	n/a
17	MAX	chr6:86369909-86370497	A549	lung:	n/a	n/a
18	POLR2A	chr6:86369863-86370392	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr6:86369676-86370549	U87	brain:	n/a	n/a
20	EGR1	chr6:86369927-86370522	HCT-116	colon:	n/a	n/a
21	TAF1	chr6:86369869-86370438	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:86369777-86370422	SK-N-SH	brain:	n/a	n/a
23	MAX	chr6:86370071-86370406	K562	blood:	n/a	n/a
24	POLR2A	chr6:86369673-86370549	U87	brain:	n/a	n/a
25	MAX	chr6:86369853-86370472	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86360455..86373602-chr6:86382637..86391992,19	MCF-7	breast:
2	chr6:86350291..86355305-chr6:86366070..86378212,20	MCF-7	breast:

No data

Variant related genes	Relation type
PKMP3	TF binding region
ENSG00000203875	Chromatin interaction
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62443330	1.00[ASN][1000 genomes]
rs62443332	1.00[ASN][1000 genomes]
rs62443351	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443354	1.00[ASN][1000 genomes]
rs62443355	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443357	1.00[ASN][1000 genomes]
rs62443358	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62444986	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62444988	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62445020	1.00[ASN][1000 genomes]
rs7753157	0.80[AMR][1000 genomes];1.00[ASN][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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
5	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86354200-86374400	Weak transcription	Left Ventricle	heart
2	chr6:86354600-86372200	Weak transcription	Brain Anterior Caudate	brain
3	chr6:86354600-86384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:86355200-86377000	Weak transcription	Thymus	Thymus
5	chr6:86355200-86380400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:86355400-86384400	Weak transcription	Pancreas	Pancrea
7	chr6:86360600-86375000	Weak transcription	Brain Germinal Matrix	brain
8	chr6:86366800-86377800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:86367400-86371400	Weak transcription	Fetal Stomach	stomach
10	chr6:86367400-86372000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:86367800-86371800	Weak transcription	Fetal Brain Female	brain
12	chr6:86367800-86375200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:86367800-86381800	Weak transcription	Lung	lung
14	chr6:86368200-86371800	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:86368200-86377600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:86368200-86384800	Weak transcription	Right Ventricle	heart
17	chr6:86368400-86374400	Weak transcription	Fetal Thymus	thymus
18	chr6:86368400-86375000	Weak transcription	Fetal Intestine Large	intestine
19	chr6:86368600-86382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:86368600-86384800	Weak transcription	Spleen	Spleen
21	chr6:86368800-86380200	Weak transcription	Adipose Nuclei	Adipose
22	chr6:86369600-86370400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:86369600-86370400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:86369600-86370400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:86369600-86370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:86369600-86370400	Strong transcription	Aorta	Aorta
27	chr6:86369600-86370400	Strong transcription	Ovary	ovary
28	chr6:86369600-86370400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:86369600-86370400	Flanking Active TSS	HSMMtube	muscle
30	chr6:86369600-86370600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:86369600-86370600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:86369600-86370600	Enhancers	HMEC	breast
33	chr6:86369600-86370600	Enhancers	NHEK	skin
34	chr6:86369600-86370600	Enhancers	NHLF	lung
35	chr6:86369800-86370400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:86369800-86370400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:86369800-86370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:86369800-86370400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:86369800-86370400	Enhancers	K562	blood
40	chr6:86370000-86370400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:86370000-86370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:86370000-86370400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:86370000-86370400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:86370000-86370400	Enhancers	Psoas Muscle	Psoas
45	chr6:86370000-86370400	Flanking Active TSS	A549	lung
46	chr6:86370000-86373400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:86370200-86370400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:86370200-86370400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:86370200-86370400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:86370200-86370400	Enhancers	Fetal Muscle Trunk	muscle

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