Variant report

Variant	rs6729923
Chromosome Location	chr2:40531834-40531835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1002671	0.91[ASN][1000 genomes]
rs10490053	0.90[ASN][1000 genomes]
rs11902975	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12995402	0.96[ASN][1000 genomes]
rs13001457	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13001473	0.94[ASN][1000 genomes]
rs13005761	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13026979	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13031392	0.88[ASN][1000 genomes]
rs17025769	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17025783	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17025800	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17025804	0.98[ASN][1000 genomes]
rs17025810	0.95[ASN][1000 genomes]
rs1990607	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2192769	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192770	0.89[ASN][1000 genomes]
rs2192771	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2287051	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287053	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34409901	0.86[ASN][1000 genomes]
rs34512805	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34562238	0.93[ASN][1000 genomes]
rs34609846	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34718894	0.87[ASN][1000 genomes]
rs35042618	0.93[ASN][1000 genomes]
rs35264779	0.98[ASN][1000 genomes]
rs35639785	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35776185	0.92[ASN][1000 genomes]
rs35892964	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35970998	0.93[ASN][1000 genomes]
rs35977357	0.94[ASN][1000 genomes]
rs4952403	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952603	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952604	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952605	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952607	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952608	0.94[ASN][1000 genomes]
rs56707698	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62150808	0.92[ASN][1000 genomes]
rs62150809	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62150812	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66566834	0.95[ASN][1000 genomes]
rs6730154	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68003012	0.93[ASN][1000 genomes]
rs72796683	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796684	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741287	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs759387	0.87[ASN][1000 genomes]
rs994419	0.86[ASN][1000 genomes]
rs994420	0.86[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40528800-40541400	Weak transcription	Dnd41	blood
3	chr2:40529800-40532400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:40529800-40532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:40530000-40532200	Enhancers	HSMMtube	muscle
6	chr2:40530200-40536200	Enhancers	Fetal Heart	heart
7	chr2:40530400-40532000	Enhancers	Aorta	Aorta
8	chr2:40530400-40532400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:40530400-40532400	Enhancers	Right Atrium	heart
10	chr2:40530400-40532600	Enhancers	Left Ventricle	heart
11	chr2:40530400-40534000	Enhancers	Right Ventricle	heart
12	chr2:40530600-40533200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40530600-40533600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:40531000-40532000	Enhancers	Brain Anterior Caudate	brain
15	chr2:40531200-40532000	Enhancers	HSMM	muscle
16	chr2:40531400-40532200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:40531400-40532400	Enhancers	HMEC	breast
18	chr2:40531400-40533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:40531400-40534400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:40531600-40532000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:40531600-40532000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:40531600-40532000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:40531600-40532000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:40531600-40532000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:40531600-40532000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:40531600-40532000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:40531600-40532400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:40531600-40532400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:40531600-40532400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:40531600-40532400	Enhancers	Fetal Muscle Leg	muscle
31	chr2:40531600-40532400	Enhancers	Psoas Muscle	Psoas
32	chr2:40531800-40532800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:40531800-40542600	Weak transcription	Osteobl	bone

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