Variant report

Variant	rs12945768
Chromosome Location	chr17:46067658-46067659
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46066387..46068128-chr17:46076064..46078648,2	MCF-7	breast:
2	chr17:46067363..46070212-chr17:46079475..46083776,4	MCF-7	breast:
3	chr17:46065449..46067684-chr17:46085725..46089051,3	K562	blood:
4	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
5	chr17:46055284..46057766-chr17:46066465..46069615,3	K562	blood:
6	chr17:46064874..46067902-chr17:46077258..46079817,3	K562	blood:
7	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	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	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	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	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35778085	1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36059789	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	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs60525548	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	0.81[AFR][1000 genomes];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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:46061800-46068200	Weak transcription	NHLF	lung
3	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
4	chr17:46063000-46068200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:46063400-46068600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:46063800-46068800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:46064200-46071000	Enhancers	HSMMtube	muscle
10	chr17:46064800-46071400	Weak transcription	Pancreas	Pancrea
11	chr17:46065200-46068000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:46065200-46068200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:46065200-46068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46065200-46069000	Weak transcription	Fetal Heart	heart
15	chr17:46065200-46069600	Weak transcription	Right Ventricle	heart
16	chr17:46065400-46068000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:46065400-46068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:46065400-46068200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:46065400-46068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:46065400-46068200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:46065400-46068200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr17:46065400-46068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:46065400-46069600	Weak transcription	Gastric	stomach
24	chr17:46065400-46069600	Weak transcription	Left Ventricle	heart
25	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
26	chr17:46065600-46067800	Weak transcription	Placenta	Placenta
27	chr17:46065600-46068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:46065600-46068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:46065600-46068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:46065600-46068200	Weak transcription	Fetal Brain Male	brain
31	chr17:46065600-46068200	Weak transcription	Fetal Brain Female	brain
32	chr17:46065600-46068200	Weak transcription	NHDF-Ad	bronchial
33	chr17:46065800-46067800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:46065800-46068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:46065800-46068200	Weak transcription	Brain Germinal Matrix	brain
36	chr17:46066000-46069200	Enhancers	HSMM	muscle
37	chr17:46066200-46068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:46066400-46068000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:46066400-46068200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:46066400-46068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:46066400-46069400	Weak transcription	Fetal Intestine Small	intestine
42	chr17:46066400-46072600	Weak transcription	Spleen	Spleen
43	chr17:46066600-46067800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:46066800-46068000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:46067000-46067800	Weak transcription	Fetal Muscle Leg	muscle
46	chr17:46067200-46067800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:46067200-46068200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:46067200-46068200	Weak transcription	K562	blood
49	chr17:46067400-46067800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr17:46067600-46068000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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