Variant report

Variant	rs72647494
Chromosome Location	chr8:59627318-59627319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59615246..59617942-chr8:59627091..59629665,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10504259	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16923737	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2130067	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737514	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66497773	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67369638	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72647496	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025575	chr8:59609825-59632135	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59623600-59627800	Weak transcription	Small Intestine	intestine
2	chr8:59625600-59628800	Enhancers	Fetal Intestine Large	intestine
3	chr8:59625800-59628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:59626000-59629000	Enhancers	Fetal Intestine Small	intestine
5	chr8:59626200-59627400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr8:59626400-59627400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:59626600-59628200	Weak transcription	K562	blood
8	chr8:59626600-59628800	Enhancers	Primary T cells from cord blood	blood
9	chr8:59626800-59627800	Weak transcription	Thymus	Thymus
10	chr8:59626800-59628000	Enhancers	Dnd41	blood
11	chr8:59626800-59628800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:59626800-59629200	Enhancers	Fetal Thymus	thymus
13	chr8:59627000-59627600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:59627000-59628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:59627000-59628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:59627000-59628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:59627000-59628200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:59627000-59628200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:59627000-59628200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:59627000-59628200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:59627000-59628600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:59627000-59634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:59627200-59627600	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:59627200-59628200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:59627200-59634800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:59627200-59634800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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