Variant report

Variant	rs1047319
Chromosome Location	chr7:100875772-100875773
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100486768..100488287-chr7:100873847..100876838,2	MCF-7	breast:
2	chr7:100815776..100817566-chr7:100873478..100875821,2	K562	blood:
3	chr7:100868740..100871092-chr7:100874981..100876725,2	MCF-7	breast:
4	chr7:100875415..100876057-chr9:96028672..96029328,2	MCF-7	breast:
5	chr7:100803416..100808550-chr7:100874499..100877439,5	MCF-7	breast:
6	chr7:100797039..100799673-chr7:100874538..100877199,3	MCF-7	breast:
7	chr7:100805632..100808542-chr7:100875769..100877364,2	K562	blood:
8	chr7:100851245..100853294-chr7:100875735..100877488,2	MCF-7	breast:
9	chr7:100870582..100872520-chr7:100874188..100875884,3	MCF-7	breast:
10	chr7:100875460..100876209-chr7:100887946..100888541,2	MCF-7	breast:
11	chr7:100863732..100865673-chr7:100872305..100875910,3	K562	blood:
12	chr7:100875357..100878063-chr7:100894000..100895633,3	MCF-7	breast:
13	chr7:100859127..100862879-chr7:100873398..100878399,9	MCF-7	breast:
14	chr7:100804477..100806745-chr7:100874352..100876756,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128564	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10250685	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs1056678	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953330	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11769624	0.95[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11977597	0.89[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap]
rs12670262	0.83[GIH][hapmap]
rs17319250	0.95[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072168	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302428	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs28361887	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35082269	0.96[ASN][1000 genomes]
rs35550811	0.87[ASN][1000 genomes]
rs3757459	1.00[ASN][1000 genomes]
rs3757460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4729672	0.99[ASN][1000 genomes]
rs62482972	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1047319	TAC1	cis	parietal	SCAN
rs1047319	MYST3	trans	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100862400-100887000	Weak transcription	Fetal Kidney	kidney
2	chr7:100863800-100884000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:100863800-100886800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100863800-100886800	Weak transcription	Hela-S3	cervix
5	chr7:100865000-100875800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:100865000-100884800	Strong transcription	Thymus	Thymus
7	chr7:100867600-100880400	Weak transcription	Aorta	Aorta
8	chr7:100868400-100887600	Weak transcription	Small Intestine	intestine
9	chr7:100868800-100880400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:100868800-100880600	Weak transcription	GM12878-XiMat	blood
11	chr7:100868800-100881600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:100868800-100884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:100869000-100879200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:100869200-100879800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:100869200-100881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:100869600-100878800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:100871000-100876600	Weak transcription	Fetal Brain Male	brain
18	chr7:100871000-100880600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:100871000-100880600	Weak transcription	Brain Substantia Nigra	brain
20	chr7:100871200-100880200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:100871800-100878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:100871800-100879800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:100872000-100880600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:100872000-100880600	Weak transcription	HSMM	muscle
25	chr7:100872200-100880600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:100872200-100880600	Weak transcription	HSMMtube	muscle
27	chr7:100872200-100881800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:100872400-100876000	Enhancers	Liver	Liver
29	chr7:100872600-100878400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:100872600-100879200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:100872600-100879600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:100872600-100879800	Weak transcription	Dnd41	blood
33	chr7:100872800-100880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:100872800-100880200	Weak transcription	Osteobl	bone
35	chr7:100872800-100880800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:100873400-100876200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:100874200-100876400	Enhancers	Fetal Heart	heart
38	chr7:100874400-100878400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:100874400-100878800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:100874400-100880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:100874600-100877400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:100874600-100877800	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:100874600-100878200	Weak transcription	Primary T cells from cord blood	blood
44	chr7:100874800-100875800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:100874800-100876000	Enhancers	Stomach Smooth Muscle	stomach
46	chr7:100875000-100875800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:100875000-100875800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:100875000-100875800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:100875000-100875800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:100875000-100875800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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