Variant report

Variant	rs12947761
Chromosome Location	chr17:46069561-46069562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46068180..46070484-chr17:46078345..46080253,2	K562	blood:
2	chr17:46067363..46070212-chr17:46079475..46083776,4	MCF-7	breast:
3	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
4	chr17:46055284..46057766-chr17:46066465..46069615,3	K562	blood:
5	chr17:46068178..46069801-chr17:46073661..46075190,2	K562	blood:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12941306	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947966	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12948207	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952687	1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34601263	0.81[AFR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35177469	1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35350665	1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	1.00[AMR][1000 genomes]
rs35751035	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35766594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35848720	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs56363348	1.00[AMR][1000 genomes]
rs57864674	1.00[AMR][1000 genomes]
rs57948485	1.00[AMR][1000 genomes]
rs58974249	1.00[AMR][1000 genomes]
rs59483607	1.00[AMR][1000 genomes]
rs59727791	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377332	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs71377352	1.00[AMR][1000 genomes]
rs73985416	1.00[AMR][1000 genomes]
rs73985417	1.00[AMR][1000 genomes]
rs73985418	1.00[AMR][1000 genomes]
rs73985419	1.00[AMR][1000 genomes]
rs73985421	1.00[AMR][1000 genomes]
rs73985422	1.00[AMR][1000 genomes]
rs73985424	1.00[AMR][1000 genomes]
rs73985479	1.00[AMR][1000 genomes]
rs8075711	1.00[AMR][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
2	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:46064200-46071000	Enhancers	HSMMtube	muscle
5	chr17:46064800-46071400	Weak transcription	Pancreas	Pancrea
6	chr17:46065200-46069600	Weak transcription	Right Ventricle	heart
7	chr17:46065400-46069600	Weak transcription	Gastric	stomach
8	chr17:46065400-46069600	Weak transcription	Left Ventricle	heart
9	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
10	chr17:46066400-46072600	Weak transcription	Spleen	Spleen
11	chr17:46067800-46069800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr17:46067800-46069800	Enhancers	Placenta	Placenta
13	chr17:46068000-46070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:46068000-46070800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:46068000-46074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:46068000-46079800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr17:46068200-46069600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr17:46068200-46071000	Enhancers	Fetal Brain Female	brain
19	chr17:46068200-46074200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:46068400-46070000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:46068400-46073000	Weak transcription	Fetal Kidney	kidney
22	chr17:46068600-46069600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:46068600-46069600	Weak transcription	K562	blood
24	chr17:46068600-46069800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:46068600-46070000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr17:46069000-46069800	Enhancers	Fetal Heart	heart
27	chr17:46069000-46070200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr17:46069000-46071600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:46069000-46071600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:46069000-46072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:46069000-46072600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46069000-46077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:46069000-46079600	Weak transcription	Fetal Thymus	thymus
34	chr17:46069200-46069600	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:46069200-46069600	Weak transcription	HSMM	muscle
36	chr17:46069200-46070000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr17:46069200-46070000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr17:46069200-46070000	Bivalent Enhancer	HepG2	liver
39	chr17:46069200-46070600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr17:46069200-46072000	Weak transcription	Brain Germinal Matrix	brain
41	chr17:46069200-46072000	Weak transcription	Fetal Brain Male	brain
42	chr17:46069200-46074400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:46069400-46069600	Enhancers	Fetal Intestine Small	intestine
44	chr17:46069400-46070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr17:46069400-46072000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:46069400-46072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:46069400-46072600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:46069400-46072600	Weak transcription	Fetal Muscle Leg	muscle

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