Variant report

Variant	rs73130987
Chromosome Location	chr5:76151252-76151253
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	chr5:76150968..76153966-chr5:76157599..76160236,2	K562	blood:
2	chr5:76145559..76148481-chr5:76149405..76151711,4	K562	blood:

Variant related genes	Relation type
ENSG00000171643	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11948063	1.00[EUR][1000 genomes]
rs11956840	1.00[EUR][1000 genomes]
rs2359425	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4481337	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59427846	1.00[EUR][1000 genomes]
rs61597150	1.00[EUR][1000 genomes]
rs6453255	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76145200-76153400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:76146600-76152000	Weak transcription	Thymus	Thymus
3	chr5:76147800-76154800	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:76148400-76156800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:76148800-76152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:76149800-76154600	Enhancers	Stomach Mucosa	stomach
7	chr5:76150000-76151600	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:76150000-76152200	Enhancers	Small Intestine	intestine
9	chr5:76150000-76153200	Enhancers	Fetal Intestine Small	intestine
10	chr5:76150200-76151800	Enhancers	Brain Substantia Nigra	brain
11	chr5:76150200-76152800	Enhancers	Fetal Intestine Large	intestine
12	chr5:76150200-76153000	Enhancers	K562	blood
13	chr5:76150400-76152400	Enhancers	Colonic Mucosa	Colon
14	chr5:76150400-76152800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr5:76150400-76153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:76150400-76153600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:76150400-76153800	Enhancers	Primary B cells from cord blood	blood
18	chr5:76150600-76151400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:76150600-76151400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:76150600-76151400	Enhancers	Placenta	Placenta
21	chr5:76150600-76151800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:76150600-76152000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:76150600-76152000	Enhancers	Gastric	stomach
24	chr5:76150600-76152600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:76150600-76152800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:76150600-76152800	Enhancers	Fetal Thymus	thymus
27	chr5:76150600-76153000	Enhancers	Primary T cells from cord blood	blood
28	chr5:76150600-76153000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:76150600-76153000	Enhancers	Spleen	Spleen
30	chr5:76150600-76153200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:76150600-76153200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:76150800-76151400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:76150800-76152800	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:76150800-76152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:76150800-76152800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:76150800-76153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:76150800-76153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:76151000-76152000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:76151000-76153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr5:76151200-76151400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:76151200-76151600	Enhancers	A549	lung
42	chr5:76151200-76152000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:76151200-76152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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