Variant report

Variant	rs73183717
Chromosome Location	chr3:120475906-120475907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120461336..120464065-chr3:120475232..120478605,3	K562	blood:
2	chr3:120469262..120472636-chr3:120473122..120476515,3	MCF-7	breast:
3	chr3:120474492..120477463-chr3:120486835..120489178,2	K562	blood:

Variant related genes	Relation type
ENSG00000153767	Chromatin interaction
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs34793874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56205540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56384839	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73183712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:120462800-120500000	Weak transcription	Gastric	stomach
6	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:120463000-120477800	Weak transcription	Spleen	Spleen
8	chr3:120463000-120482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:120463000-120484800	Weak transcription	K562	blood
10	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea
11	chr3:120463000-120485600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:120463000-120485600	Weak transcription	HMEC	breast
13	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
15	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
17	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
19	chr3:120463200-120484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr3:120463200-120485400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:120463200-120492000	Weak transcription	Thymus	Thymus
22	chr3:120463200-120494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
24	chr3:120463400-120476800	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:120463400-120478800	Weak transcription	NH-A	brain
26	chr3:120463400-120482800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:120463400-120485000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
29	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
30	chr3:120464000-120489600	Weak transcription	NHDF-Ad	bronchial
31	chr3:120466800-120481400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:120469400-120476800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:120469400-120477000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:120469400-120477200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:120469600-120476800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:120470200-120476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:120470200-120482800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:120470200-120482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:120470200-120483000	Weak transcription	Left Ventricle	heart
40	chr3:120470200-120485400	Weak transcription	Fetal Stomach	stomach
41	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
42	chr3:120470200-120499800	Weak transcription	Lung	lung
43	chr3:120470400-120482800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:120470400-120484400	Weak transcription	HepG2	liver
45	chr3:120470400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:120470400-120489600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:120470600-120482800	Weak transcription	Adipose Nuclei	Adipose
48	chr3:120470600-120490200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:120470800-120490400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:120471400-120476800	ZNF genes & repeats	GM12878-XiMat	blood

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