Variant report

Variant	rs10249314
Chromosome Location	chr7:27776727-27776728
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	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: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1029604	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11761718	1.00[CEU][hapmap]
rs11761773	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11762056	1.00[CEU][hapmap]
rs11764419	1.00[CEU][hapmap]
rs11764624	1.00[CEU][hapmap]
rs11772163	1.00[CEU][hapmap]
rs1468443	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607303	1.00[CEU][hapmap]
rs17680908	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17683094	1.00[CEU][hapmap]
rs1859109	0.82[CEU][hapmap]
rs197	0.85[CEU][hapmap]
rs200	0.85[CEU][hapmap]
rs201	0.85[CEU][hapmap]
rs205	0.85[CEU][hapmap]
rs207	0.85[CEU][hapmap]
rs208	0.85[CEU][hapmap]
rs211	0.82[CEU][hapmap]
rs213	0.85[CEU][hapmap]
rs215	0.85[CEU][hapmap]
rs2158892	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs218	0.85[CEU][hapmap]
rs41326151	0.86[CEU][hapmap]
rs42090	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs42093	1.00[CEU][hapmap]
rs42097	1.00[CEU][hapmap]
rs42114	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722731	0.97[EUR][1000 genomes]
rs4722736	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070801	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60426718	0.90[EUR][1000 genomes]
rs62454852	1.00[AFR][1000 genomes]
rs62454853	1.00[AFR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes]
rs6462044	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes]
rs6951040	0.85[CEU][hapmap]
rs6960451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969949	0.85[CEU][hapmap]
rs6970160	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075310	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075354	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075359	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73083352	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73083361	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73083363	0.82[AMR][1000 genomes]
rs73083364	0.82[AMR][1000 genomes]
rs73083371	0.82[AMR][1000 genomes]
rs73083377	0.82[AMR][1000 genomes]
rs73083378	0.82[AMR][1000 genomes]
rs7790914	1.00[CEU][hapmap]
rs7795207	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs916854	0.85[CEU][hapmap]

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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