Variant report

Variant	rs4729769
Chromosome Location	chr7:101671294-101671295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12668959	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669667	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233554	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243790	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134999	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727517	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727518	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729768	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809609	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	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
2	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
3	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
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101641600-101672000	Weak transcription	K562	blood
2	chr7:101642200-101671400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:101642200-101671600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:101642200-101674600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:101642400-101671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:101642400-101675400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:101643000-101672800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:101643000-101675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:101646800-101671600	Weak transcription	GM12878-XiMat	blood
11	chr7:101648200-101681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:101648200-101688000	Weak transcription	Ovary	ovary
13	chr7:101649000-101671400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:101649400-101672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:101649800-101671600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:101652400-101671600	Weak transcription	Pancreas	Pancrea
17	chr7:101652400-101683200	Weak transcription	Right Ventricle	heart
18	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:101653000-101671400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
21	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
22	chr7:101653400-101671600	Weak transcription	Gastric	stomach
23	chr7:101654200-101671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:101655800-101671400	Weak transcription	Adipose Nuclei	Adipose
25	chr7:101656000-101682800	Weak transcription	Psoas Muscle	Psoas
26	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
27	chr7:101656200-101671400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:101656800-101681400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:101657000-101672000	Weak transcription	Fetal Lung	lung
30	chr7:101657000-101681400	Weak transcription	Osteobl	bone
31	chr7:101657200-101671600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:101657200-101677000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:101657800-101671400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:101662400-101671800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:101664600-101676400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:101665600-101671400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
38	chr7:101665800-101671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:101665800-101671600	Weak transcription	Lung	lung
40	chr7:101666000-101671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:101666200-101671600	Weak transcription	NHEK	skin
42	chr7:101666400-101671400	Enhancers	Fetal Thymus	thymus
43	chr7:101666600-101681400	Weak transcription	NHLF	lung
44	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
45	chr7:101667600-101671600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:101667600-101672600	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:101667600-101675200	Weak transcription	Esophagus	oesophagus
48	chr7:101667600-101676800	Weak transcription	Brain Germinal Matrix	brain
49	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:101667600-101685200	Weak transcription	NH-A	brain

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