Variant report

Variant	rs10516729
Chromosome Location	chr4:85731636-85731637
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	chr4:85725097..85727859-chr4:85731433..85733600,2	K562	blood:

Variant related genes	Relation type
ENSG00000163625	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10516726	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10516728	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10516733	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10516734	0.85[EUR][1000 genomes]
rs11724870	0.91[ASN][1000 genomes]
rs11726635	0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs11728145	0.91[ASN][1000 genomes]
rs11730031	0.88[ASN][1000 genomes]
rs11730137	0.88[ASN][1000 genomes]
rs11936391	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11936719	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940030	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11947757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1463607	0.88[ASN][1000 genomes]
rs1473456	0.88[ASN][1000 genomes]
rs1484662	0.85[CHD][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1601286	0.85[CHD][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16995917	0.88[ASN][1000 genomes]
rs17009212	0.88[ASN][1000 genomes]
rs17009218	0.88[ASN][1000 genomes]
rs17009245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17009286	0.85[CHD][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1994227	0.88[ASN][1000 genomes]
rs2015631	1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs3747681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs4544703	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7681742	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7692204	0.82[AMR][1000 genomes]
rs894533	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85683800-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
4	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:85702200-85732200	Weak transcription	Spleen	Spleen
6	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:85705200-85735200	Weak transcription	A549	lung
8	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:85709000-85769600	Weak transcription	Right Ventricle	heart
12	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
13	chr4:85709200-85749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:85709200-85770200	Weak transcription	Psoas Muscle	Psoas
15	chr4:85722200-85733600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:85722200-85787600	Weak transcription	Gastric	stomach
17	chr4:85722400-85751800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:85722400-85762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:85723000-85742000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:85723000-85751200	Weak transcription	Fetal Heart	heart
21	chr4:85723000-85754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
23	chr4:85723200-85749600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:85723200-85770400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:85723200-85777000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:85723400-85738800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:85724000-85749400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:85724000-85752000	Weak transcription	Fetal Stomach	stomach
29	chr4:85724000-85781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:85724000-85786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:85724200-85761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:85724200-85769600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:85724600-85753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:85724800-85739200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:85725200-85739600	Weak transcription	Brain Germinal Matrix	brain
36	chr4:85725600-85735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:85725600-85735400	Weak transcription	NH-A	brain
38	chr4:85725800-85735200	Weak transcription	NHEK	skin
39	chr4:85725800-85735400	Weak transcription	Aorta	Aorta
40	chr4:85725800-85738000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:85726200-85735200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:85726800-85731800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:85726800-85732000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:85727200-85732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:85727400-85732000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:85727400-85732800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:85727400-85735400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:85727600-85734800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:85727800-85783200	Weak transcription	Colonic Mucosa	Colon
50	chr4:85728000-85732000	Strong transcription	HUVEC	blood vessel

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