Variant report

Variant	rs7549456
Chromosome Location	chr1:225626429-225626430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225621659..225624533-chr1:225625428..225627724,2	K562	blood:
2	chr1:225624616..225627313-chr1:225629301..225631350,2	MCF-7	breast:
3	chr1:225625723..225627674-chr1:225628168..225630049,2	K562	blood:
4	chr1:225625909..225628498-chr1:225632163..225635027,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10753406	0.83[ASN][1000 genomes]
rs10799311	0.85[ASN][1000 genomes]
rs10915828	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10915830	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10915833	0.84[ASN][1000 genomes]
rs11584675	0.84[ASN][1000 genomes]
rs4653637	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653639	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426076	0.86[ASN][1000 genomes]
rs6668770	0.81[ASN][1000 genomes]
rs6697783	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702452	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702538	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7515907	0.86[ASN][1000 genomes]
rs7515939	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7541598	0.86[ASN][1000 genomes]
rs7555553	0.86[ASN][1000 genomes]
rs947034	0.82[AFR][1000 genomes];0.92[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225617400-225626600	Weak transcription	Dnd41	blood
2	chr1:225619600-225629000	Weak transcription	Spleen	Spleen
3	chr1:225624400-225628200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:225624400-225629000	Weak transcription	GM12878-XiMat	blood
5	chr1:225624600-225627600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:225624800-225627600	Weak transcription	HepG2	liver
7	chr1:225625200-225626600	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:225625400-225626800	Enhancers	Thymus	Thymus
9	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
10	chr1:225625800-225626600	Enhancers	Fetal Stomach	stomach
11	chr1:225625800-225626600	Enhancers	K562	blood
12	chr1:225625800-225626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:225625800-225627000	Enhancers	Fetal Thymus	thymus
14	chr1:225625800-225627600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:225626000-225626800	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:225626000-225627600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:225626000-225629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:225626000-225629400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
20	chr1:225626200-225626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:225626200-225629000	Weak transcription	Primary B cells from cord blood	blood
22	chr1:225626200-225629200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:225626200-225629200	Weak transcription	Fetal Kidney	kidney
24	chr1:225626400-225626800	Enhancers	Colonic Mucosa	Colon
25	chr1:225626400-225627200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:225626400-225627800	Weak transcription	Stomach Mucosa	stomach
27	chr1:225626400-225628600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:225626400-225629000	Weak transcription	Lung	lung
29	chr1:225626400-225630600	Weak transcription	Hela-S3	cervix

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