Variant report

Variant	rs12907305
Chromosome Location	chr15:78010190-78010191
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	chr15:78009070..78011036-chr15:78012914..78014777,2	K562	blood:
2	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:

Variant related genes	Relation type
ENSG00000169783	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12906694	0.84[ASN][1000 genomes]
rs12911431	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12912165	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913905	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12914069	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28409660	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28457682	0.89[EUR][1000 genomes]
rs28470773	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28482107	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28502093	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28534807	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28544452	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28558809	0.89[EUR][1000 genomes]
rs28577113	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28640971	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28676831	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28698962	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28835040	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34332318	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34543037	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34606680	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34772139	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34828064	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35303947	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35699564	0.84[ASN][1000 genomes]
rs35722051	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35746992	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36067074	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4076997	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4076999	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58395512	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66701160	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67228710	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7174507	0.83[EUR][1000 genomes]
rs7174547	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7179534	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv570141	chr15:77985554-78017361	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv570142	chr15:77993282-78010746	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv570143	chr15:77993282-78017361	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv833061	chr15:77998374-78121905	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv570144	chr15:77999436-78010949	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv570145	chr15:77999436-78012025	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv570146	chr15:78004743-78011408	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	nsv570147	chr15:78004743-78012025	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	nsv570148	chr15:78004743-78012504	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	nsv570149	chr15:78004743-78012618	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
16	nsv570150	chr15:78004743-78038124	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3440466	chr15:78006797-78011095	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
18	esv3311440	chr15:78008123-78012813	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	nsv819143	chr15:78008216-78012467	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
20	esv7445	chr15:78008269-78012797	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
21	esv3311445	chr15:78008353-78012689	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
22	esv3311443	chr15:78008391-78012650	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
23	esv3311442	chr15:78008409-78012655	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
24	esv3311444	chr15:78008425-78012606	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
25	esv3553	chr15:78008442-78012638	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
26	esv3311439	chr15:78008472-78012588	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
27	esv3311446	chr15:78008486-78012584	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
28	esv20035	chr15:78008507-78012659	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
29	nsv827404	chr15:78008718-78011171	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
30	nsv827405	chr15:78008718-78011565	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
31	nsv827406	chr15:78008718-78011732	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
32	nsv827407	chr15:78008718-78012324	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
33	nsv827408	chr15:78008718-78012445	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
34	nsv570151	chr15:78008843-78011104	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
35	nsv570152	chr15:78008843-78011408	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
36	nsv570153	chr15:78008843-78012025	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
37	nsv570154	chr15:78008843-78012117	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
38	nsv570155	chr15:78008843-78012216	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
39	nsv570156	chr15:78008843-78012411	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
40	nsv570157	chr15:78008843-78012504	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
41	nsv570158	chr15:78008843-78012618	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
42	nsv570159	chr15:78008843-78022087	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	nsv570160	chr15:78009088-78011408	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
44	nsv570161	chr15:78009088-78012025	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
45	nsv570162	chr15:78009088-78012618	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
46	nsv570163	chr15:78009448-78012117	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
47	nsv570164	chr15:78009448-78012618	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
48	nsv570165	chr15:78009773-78012117	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
49	nsv570166	chr15:78009773-78012618	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
50	esv3338774	chr15:78009997-78014295	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:78006400-78013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:78007000-78016600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:78009200-78012000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:78009400-78010200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr15:78009400-78011800	Enhancers	Fetal Brain Male	brain
7	chr15:78009400-78015200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:78009800-78010200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr15:78009800-78010200	Enhancers	Fetal Brain Female	brain
10	chr15:78009800-78012200	Weak transcription	Brain Germinal Matrix	brain
11	chr15:78010000-78010200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:78010000-78015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:78010000-78015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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