Variant report

Variant	rs12948241
Chromosome Location	chr17:45252286-45252287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45246078..45249140-chr17:45252023..45255438,3	K562	blood:
2	chr17:45250177..45252891-chr17:45399741..45402575,2	K562	blood:
3	chr17:45249552..45252803-chr17:45263494..45265675,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000004897	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000261872	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11079759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079761	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570441	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570451	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570487	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570520	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570557	1.00[ASN][1000 genomes]
rs11570562	1.00[ASN][1000 genomes]
rs11570568	1.00[ASN][1000 genomes]
rs11570570	1.00[ASN][1000 genomes]
rs11869591	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871824	0.81[EUR][1000 genomes]
rs12937083	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12937292	1.00[ASN][1000 genomes]
rs12939917	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941464	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12947898	1.00[ASN][1000 genomes]
rs12950715	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515753	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941640	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040602	1.00[ASN][1000 genomes]
rs2317378	1.00[ASN][1000 genomes]
rs34006043	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735768	1.00[ASN][1000 genomes]
rs34885810	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536045	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751916	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59581991	1.00[ASN][1000 genomes]
rs66518624	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66976195	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551364	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67777457	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375393	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823426	1.00[ASN][1000 genomes]
rs731790	1.00[ASN][1000 genomes]
rs7502265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954345	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3314728	chr17:45249324-45258982	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3314730	chr17:45249324-45258982	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3362151	chr17:45249372-45258977	ZNF genes & repeats Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3450592	chr17:45249392-45258947	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45247600-45255400	Strong transcription	HepG2	liver
3	chr17:45249400-45256200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:45249600-45252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:45249600-45252400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:45249600-45252400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:45249600-45252400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:45249600-45252400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:45249600-45252400	Weak transcription	NHDF-Ad	bronchial
10	chr17:45249600-45252400	Weak transcription	NHEK	skin
11	chr17:45249600-45252600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:45249600-45252600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:45249600-45252600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr17:45249600-45252600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:45249600-45252600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45249600-45252600	Weak transcription	NH-A	brain
17	chr17:45249600-45252800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:45249600-45252800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:45249600-45252800	Weak transcription	Thymus	Thymus
20	chr17:45249600-45253000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:45249600-45253200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:45249600-45253400	Strong transcription	Primary B cells from cord blood	blood
23	chr17:45249600-45253600	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:45249600-45253800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:45249600-45253800	Weak transcription	Hela-S3	cervix
26	chr17:45249600-45254000	Weak transcription	Fetal Lung	lung
27	chr17:45249600-45254000	Weak transcription	HMEC	breast
28	chr17:45249600-45254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:45249600-45254400	Weak transcription	Placenta	Placenta
30	chr17:45249600-45254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:45249600-45254600	Weak transcription	Brain Anterior Caudate	brain
32	chr17:45249600-45254800	Weak transcription	Ovary	ovary
33	chr17:45249600-45255200	Weak transcription	Fetal Heart	heart
34	chr17:45249600-45255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:45249600-45255400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:45249600-45255600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:45249600-45255600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:45249600-45256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:45249600-45256200	Weak transcription	NHLF	lung
40	chr17:45249600-45256400	Weak transcription	Brain Angular Gyrus	brain
41	chr17:45249600-45256400	Weak transcription	Fetal Kidney	kidney
42	chr17:45249600-45256400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr17:45249600-45256400	Weak transcription	Spleen	Spleen
44	chr17:45249600-45256400	Weak transcription	HSMMtube	muscle
45	chr17:45249600-45256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:45249600-45256600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:45249600-45256600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:45249600-45257400	Weak transcription	Lung	lung
49	chr17:45249600-45258400	Weak transcription	Left Ventricle	heart
50	chr17:45249600-45258400	Strong transcription	Dnd41	blood

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