Variant report

Variant	rs4729766
Chromosome Location	chr7:101625079-101625080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101619639..101621573-chr7:101623949..101626525,2	K562	blood:
2	chr7:101622396..101625620-chr7:101628035..101630999,3	MCF-7	breast:
3	chr7:101456365..101464966-chr7:101609986..101627610,39	MCF-7	breast:
4	chr7:101616036..101617995-chr7:101623779..101626539,2	MCF-7	breast:
5	chr7:101618045..101620929-chr7:101623155..101625232,2	MCF-7	breast:
6	chr7:101624015..101626714-chr7:101633341..101635563,2	MCF-7	breast:
7	chr7:101616114..101620590-chr7:101622530..101625507,8	MCF-7	breast:
8	chr7:101619566..101621139-chr7:101625025..101626768,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2970478	0.81[ASN][1000 genomes]
rs386137	0.91[ASN][1000 genomes]
rs404284	0.86[ASN][1000 genomes]
rs416466	0.81[ASN][1000 genomes]
rs425768	0.84[ASN][1000 genomes]
rs434564	0.84[ASN][1000 genomes]
rs440923	0.87[ASN][1000 genomes]
rs4727514	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729764	0.80[ASN][1000 genomes]
rs6954798	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs740302	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs876826	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
4	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:101597400-101625400	Weak transcription	NHLF	lung
6	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:101599200-101626200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:101601600-101626600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:101606800-101628400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:101608200-101626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:101608800-101627800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:101610000-101626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:101614200-101628600	Weak transcription	Colonic Mucosa	Colon
15	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
16	chr7:101616000-101626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:101616000-101626200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:101616000-101626600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:101616000-101627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:101616400-101633000	Weak transcription	Gastric	stomach
21	chr7:101616600-101626400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:101616600-101627800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:101616600-101628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:101616600-101630200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:101616800-101625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:101616800-101625200	Weak transcription	Dnd41	blood
27	chr7:101616800-101625400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:101616800-101626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:101616800-101628600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:101617000-101634000	Weak transcription	Liver	Liver
31	chr7:101619200-101625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:101619200-101626400	Weak transcription	K562	blood
33	chr7:101619600-101630800	Weak transcription	HepG2	liver
34	chr7:101620000-101625200	Weak transcription	A549	lung
35	chr7:101620200-101642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:101621200-101625200	Strong transcription	Fetal Intestine Small	intestine
37	chr7:101621800-101627800	Weak transcription	Esophagus	oesophagus
38	chr7:101621800-101628600	Weak transcription	Fetal Brain Male	brain
39	chr7:101622000-101628600	Weak transcription	Right Ventricle	heart
40	chr7:101622200-101626600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr7:101622200-101627800	Weak transcription	Right Atrium	heart
42	chr7:101622200-101635600	Weak transcription	Pancreas	Pancrea
43	chr7:101622400-101628400	Weak transcription	Fetal Heart	heart
44	chr7:101622400-101628600	Weak transcription	Lung	lung
45	chr7:101622600-101625200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:101622600-101625400	Weak transcription	Placenta	Placenta
47	chr7:101622600-101626200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:101623000-101631800	Weak transcription	Fetal Intestine Large	intestine
49	chr7:101623600-101626600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:101623600-101628000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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