Variant report

Variant	rs73612420
Chromosome Location	chr6:150181000-150181001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150180146-150181381	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr6:150180385-150181024	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:150180156-150183754	HepG2	liver:	n/a	n/a
4	FOXA2	chr6:150180364-150182588	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:150180112-150181512	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:150180260-150181110	HepG2	liver:	n/a	n/a

No data

(count:4 , 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	chr6:150166110..150169897-chr6:150177295..150181208,4	MCF-7	breast:
4	chr6:150180705..150183477-chr6:150200209..150201991,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000120256	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000217733	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]
rs60226016	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744111	0.87[EUR][1000 genomes]
rs7745198	0.90[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	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478994	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478995	0.82[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:82 , 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	chr6:150167800-150181400	Weak transcription	Right Atrium	heart
6	chr6:150168800-150182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:150168800-150183400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:150169000-150181200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:150169200-150183000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:150169400-150183200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:150172600-150181600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:150173000-150181200	Weak transcription	Liver	Liver
13	chr6:150173000-150181600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
15	chr6:150173200-150183200	Weak transcription	Ovary	ovary
16	chr6:150173800-150181800	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:150174000-150181600	Weak transcription	Brain Anterior Caudate	brain
18	chr6:150174200-150181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:150174200-150181600	Weak transcription	Fetal Stomach	stomach
20	chr6:150174200-150181800	Weak transcription	Adipose Nuclei	Adipose
21	chr6:150174200-150182600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:150176000-150181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:150176200-150181200	Weak transcription	Esophagus	oesophagus
24	chr6:150176200-150183200	Weak transcription	Fetal Intestine Large	intestine
25	chr6:150176400-150182000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:150176600-150181400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:150176600-150182400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:150176600-150183200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:150176600-150183400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:150176800-150181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:150176800-150181400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:150176800-150181600	Weak transcription	Lung	lung
33	chr6:150176800-150182200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:150176800-150183400	Weak transcription	HSMMtube	muscle
35	chr6:150177200-150181200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:150177200-150181200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:150177200-150181200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:150177200-150182000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:150177200-150183000	Weak transcription	Fetal Kidney	kidney
40	chr6:150177600-150183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:150177600-150183200	Weak transcription	Fetal Lung	lung
42	chr6:150178000-150183200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:150178000-150183200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:150178200-150181200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:150178600-150181200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:150178600-150181600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:150178600-150182000	Weak transcription	NHDF-Ad	bronchial
48	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
49	chr6:150178800-150181200	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:150178800-150181200	Enhancers	HUVEC	blood vessel

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