Variant report

Variant	rs416466
Chromosome Location	chr7:101599246-101599247
allele	A/G
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	ZNF384	chr7:101599172-101599779	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101593140..101595958-chr7:101598421..101601037,2	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000272219	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2970478	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs386137	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs404284	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs425768	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs425964	0.80[ASN][1000 genomes]
rs434564	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs440923	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441601	0.82[ASN][1000 genomes]
rs441780	0.82[ASN][1000 genomes]
rs4727514	0.85[ASN][1000 genomes]
rs4729764	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4729766	0.81[ASN][1000 genomes]
rs6954798	0.83[ASN][1000 genomes]
rs740302	0.81[ASN][1000 genomes]
rs876826	0.82[AMR][1000 genomes];0.84[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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101612000	Weak transcription	HepG2	liver
2	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:101583400-101608000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:101586000-101603200	Weak transcription	Fetal Intestine Large	intestine
5	chr7:101586400-101615800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:101586400-101620600	Weak transcription	Adipose Nuclei	Adipose
7	chr7:101587000-101601200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:101591600-101600000	Weak transcription	HSMMtube	muscle
10	chr7:101591600-101607800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:101592200-101602600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
13	chr7:101594600-101601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:101594800-101612400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:101596200-101599400	Enhancers	Primary B cells from peripheral blood	blood
16	chr7:101596200-101601200	Enhancers	Dnd41	blood
17	chr7:101596200-101606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:101596200-101606400	Weak transcription	Thymus	Thymus
19	chr7:101596200-101615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:101596400-101601200	Weak transcription	Esophagus	oesophagus
21	chr7:101596400-101602200	Weak transcription	Placenta	Placenta
22	chr7:101596400-101603800	Weak transcription	Gastric	stomach
23	chr7:101596400-101606400	Weak transcription	Pancreas	Pancrea
24	chr7:101596400-101608000	Weak transcription	Spleen	Spleen
25	chr7:101596400-101615800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:101596600-101601400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:101596800-101614200	Weak transcription	K562	blood
28	chr7:101597000-101601000	Weak transcription	NHEK	skin
29	chr7:101597000-101602400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:101597000-101602800	Enhancers	Fetal Heart	heart
31	chr7:101597000-101608400	Weak transcription	Small Intestine	intestine
32	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:101597200-101621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:101597400-101601200	Enhancers	GM12878-XiMat	blood
35	chr7:101597400-101604200	Weak transcription	Liver	Liver
36	chr7:101597400-101608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:101597400-101616400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:101597400-101624800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:101597400-101625400	Weak transcription	NHLF	lung
40	chr7:101597600-101602200	Weak transcription	Stomach Mucosa	stomach
41	chr7:101597600-101615800	Weak transcription	Primary T cells from cord blood	blood
42	chr7:101597600-101624600	Weak transcription	Hela-S3	cervix
43	chr7:101598000-101599800	Weak transcription	Fetal Intestine Small	intestine
44	chr7:101598000-101608600	Weak transcription	Ovary	ovary
45	chr7:101598200-101603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:101598400-101601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:101598400-101606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:101598600-101600200	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:101598600-101606400	Weak transcription	Lung	lung

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