Variant report

Variant	rs7011981
Chromosome Location	chr8:59627151-59627152
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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11995052	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270855	1.00[ASN][1000 genomes]
rs4737508	1.00[ASN][1000 genomes]
rs7013052	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901955	1.00[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:30 , 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	chr8:59626000-59627200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:59626000-59629000	Enhancers	Fetal Intestine Small	intestine
6	chr8:59626200-59627200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:59626200-59627400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr8:59626400-59627200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:59626400-59627200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:59626400-59627400	Enhancers	Colon Smooth Muscle	Colon
11	chr8:59626600-59627200	Enhancers	Primary B cells from cord blood	blood
12	chr8:59626600-59628200	Weak transcription	K562	blood
13	chr8:59626600-59628800	Enhancers	Primary T cells from cord blood	blood
14	chr8:59626800-59627200	Weak transcription	Colonic Mucosa	Colon
15	chr8:59626800-59627200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr8:59626800-59627200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:59626800-59627800	Weak transcription	Thymus	Thymus
18	chr8:59626800-59628000	Enhancers	Dnd41	blood
19	chr8:59626800-59628800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:59626800-59629200	Enhancers	Fetal Thymus	thymus
21	chr8:59627000-59627600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:59627000-59628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:59627000-59628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:59627000-59628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:59627000-59628200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:59627000-59628200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:59627000-59628200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:59627000-59628200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:59627000-59628600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:59627000-59634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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