Variant report

Variant	rs7729861
Chromosome Location	chr5:16745521-16745522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16744561..16747041-chr5:16752220..16754067,2	K562	blood:
2	chr5:16743803..16745620-chr5:16745640..16748516,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10037291	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10043510	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10051558	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10051930	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10057142	0.84[EUR][1000 genomes]
rs10077298	0.99[EUR][1000 genomes]
rs13359146	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60500565	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6896958	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7712627	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7712637	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7729830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7729975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7730280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7730837	0.99[EUR][1000 genomes]
rs9312925	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv520128	chr5:16737513-16746784	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
2	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
3	chr5:16736800-16756600	Weak transcription	Ovary	ovary
4	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
5	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
6	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
7	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:16738000-16746400	Weak transcription	Osteobl	bone
10	chr5:16738400-16748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:16738600-16746800	Weak transcription	Fetal Intestine Large	intestine
12	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
14	chr5:16740400-16747200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:16740400-16748200	Weak transcription	Right Ventricle	heart
16	chr5:16741000-16755800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:16741000-16758400	Weak transcription	Aorta	Aorta
18	chr5:16741200-16782000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:16741400-16754600	Weak transcription	Fetal Kidney	kidney
20	chr5:16741800-16761400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:16742000-16745800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:16742000-16746600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:16742000-16747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:16742200-16746800	Weak transcription	HMEC	breast
25	chr5:16742200-16751800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:16742200-16752000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:16742200-16752600	Weak transcription	NHEK	skin
28	chr5:16742400-16746600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:16742400-16747600	Weak transcription	Fetal Stomach	stomach
30	chr5:16742400-16757800	Weak transcription	Adipose Nuclei	Adipose
31	chr5:16742400-16761800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:16742400-16773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16742600-16746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:16742600-16749000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:16742600-16749600	Weak transcription	NHLF	lung
36	chr5:16742600-16750000	Weak transcription	Brain Germinal Matrix	brain
37	chr5:16742800-16749600	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:16742800-16751200	Weak transcription	NHDF-Ad	bronchial
39	chr5:16742800-16754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:16742800-16767800	Weak transcription	Fetal Brain Female	brain
41	chr5:16743400-16746600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:16743400-16750600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:16743400-16753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:16743400-16760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:16743600-16746000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:16743600-16746400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:16743600-16746600	Weak transcription	NH-A	brain
48	chr5:16743600-16747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:16743600-16777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:16743800-16749800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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