Variant report

Variant	rs62449628
Chromosome Location	chr7:27776737-27776738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27750530..27752720-chr7:27775976..27778781,2	K562	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10228505	0.88[ASN][1000 genomes]
rs10228576	0.85[ASN][1000 genomes]
rs10245536	0.88[ASN][1000 genomes]
rs10281008	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486556	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10486562	0.88[ASN][1000 genomes]
rs10951178	0.90[EUR][1000 genomes]
rs10951180	0.85[EUR][1000 genomes]
rs10951181	0.85[EUR][1000 genomes]
rs11761430	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11761467	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768570	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769157	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984239	0.88[ASN][1000 genomes]
rs17150567	0.88[ASN][1000 genomes]
rs17155691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17155797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155863	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17611272	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17684444	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17692264	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237344	0.85[EUR][1000 genomes]
rs2285929	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28432782	0.88[ASN][1000 genomes]
rs28693893	0.88[ASN][1000 genomes]
rs28805873	0.88[ASN][1000 genomes]
rs56172733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979783	0.88[ASN][1000 genomes]
rs61179177	0.88[ASN][1000 genomes]
rs61446104	0.88[ASN][1000 genomes]
rs62449630	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449641	0.90[EUR][1000 genomes]
rs62451066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451069	0.85[EUR][1000 genomes]
rs62451070	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451071	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62451072	0.88[ASN][1000 genomes]
rs62451074	0.88[ASN][1000 genomes]
rs62451078	0.88[ASN][1000 genomes]
rs62454809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979972	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73075305	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73075333	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73078729	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73078746	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739900	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7797888	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27770000-27778600	Weak transcription	Right Atrium	heart
3	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
4	chr7:27773600-27778600	Enhancers	Fetal Intestine Large	intestine
5	chr7:27774600-27776800	Weak transcription	Stomach Mucosa	stomach
6	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
7	chr7:27774800-27778400	Weak transcription	HUVEC	blood vessel
8	chr7:27775200-27778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:27775200-27778400	Weak transcription	Hela-S3	cervix
10	chr7:27775600-27778600	Weak transcription	A549	lung
11	chr7:27775800-27776800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:27775800-27777000	Weak transcription	Pancreas	Pancrea
13	chr7:27775800-27777600	Weak transcription	Liver	Liver
14	chr7:27775800-27777600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:27775800-27778000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:27775800-27778200	Weak transcription	Fetal Lung	lung
17	chr7:27775800-27778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27775800-27779200	Weak transcription	Gastric	stomach
19	chr7:27775800-27779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:27776400-27778200	Enhancers	HepG2	liver
21	chr7:27776600-27777600	Enhancers	K562	blood

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