Variant report

Variant	rs60226016
Chromosome Location	chr6:150181602-150181603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150181143-150183681	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:150180156-150183754	HepG2	liver:	n/a	n/a
3	FOXA2	chr6:150180364-150182588	HepG2	liver:	n/a	n/a
4	EP300	chr6:150181584-150182809	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:150172032..150174642-chr6:150180261..150182343,2	K562	blood:
2	chr6:150179152..150182085-chr6:150183567..150186246,3	K562	blood:
3	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
4	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
5	chr6:150180705..150183477-chr6:150200209..150201991,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000131023	Chromatin interaction
ENSG00000217733	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000273132	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11968879	0.87[EUR][1000 genomes]
rs17078923	0.86[EUR][1000 genomes]
rs59026959	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59035385	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60328093	1.00[EUR][1000 genomes]
rs60981297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61292046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61745766	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899595	0.86[EUR][1000 genomes]
rs6919437	0.87[EUR][1000 genomes]
rs73610596	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612411	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612418	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612420	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744111	0.87[EUR][1000 genomes]
rs7745198	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478983	0.86[EUR][1000 genomes]
rs9478993	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478994	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478995	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
2	chr6:150155800-150182600	Weak transcription	Dnd41	blood
3	chr6:150164400-150181800	Weak transcription	Brain Germinal Matrix	brain
4	chr6:150165000-150181800	Weak transcription	Fetal Brain Female	brain
5	chr6:150168800-150182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:150168800-150183400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:150169200-150183000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:150169400-150183200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
10	chr6:150173200-150183200	Weak transcription	Ovary	ovary
11	chr6:150173800-150181800	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:150174200-150181800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:150174200-150182600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:150176000-150181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:150176200-150183200	Weak transcription	Fetal Intestine Large	intestine
16	chr6:150176400-150182000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:150176600-150182400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:150176600-150183200	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:150176600-150183400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:150176800-150182200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:150176800-150183400	Weak transcription	HSMMtube	muscle
22	chr6:150177200-150182000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:150177200-150183000	Weak transcription	Fetal Kidney	kidney
24	chr6:150177600-150183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:150177600-150183200	Weak transcription	Fetal Lung	lung
26	chr6:150178000-150183200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:150178000-150183200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:150178600-150182000	Weak transcription	NHDF-Ad	bronchial
29	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
30	chr6:150178800-150183400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:150179000-150182000	Weak transcription	NH-A	brain
32	chr6:150179000-150183200	Weak transcription	HSMM	muscle
33	chr6:150179600-150183200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:150179800-150182000	Enhancers	NHLF	lung
35	chr6:150180000-150182200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:150180000-150182400	Enhancers	Osteobl	bone
37	chr6:150180200-150182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:150180200-150183400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:150180400-150182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:150180600-150182800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:150180600-150183200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:150180600-150183600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:150180600-150183600	Enhancers	Gastric	stomach
44	chr6:150180600-150184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:150180800-150181800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:150180800-150183200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:150181200-150181800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:150181200-150182000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:150181200-150182000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:150181200-150182000	Flanking Active TSS	HepG2	liver

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