Variant report

Variant	rs71369767
Chromosome Location	chr17:37622002-37622003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37621427..37623786-chr17:37626358..37629657,3	MCF-7	breast:
2	chr17:37616556..37619121-chr17:37619599..37622081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12940109	1.00[AMR][1000 genomes]
rs12940881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940956	1.00[AMR][1000 genomes]
rs12945363	1.00[AMR][1000 genomes]
rs12947238	1.00[AMR][1000 genomes]
rs12953178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34821956	1.00[AMR][1000 genomes]
rs34904106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34910003	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34983824	1.00[AMR][1000 genomes]
rs35194764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35269184	1.00[AMR][1000 genomes]
rs35366897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35499078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35656573	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35829705	1.00[AMR][1000 genomes]
rs35853230	1.00[AMR][1000 genomes]
rs35896550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57938769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59775294	1.00[AMR][1000 genomes]
rs6503512	1.00[AMR][1000 genomes]
rs71369747	0.83[AMR][1000 genomes]
rs71369760	0.83[AMR][1000 genomes]
rs71369763	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71577045	0.83[AMR][1000 genomes]
rs7212530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212780	1.00[AMR][1000 genomes]
rs7218668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226222	1.00[AMR][1000 genomes]
rs8064372	1.00[AMR][1000 genomes]
rs8069194	1.00[AMR][1000 genomes]
rs8073144	1.00[AMR][1000 genomes]
rs8074199	1.00[AMR][1000 genomes]
rs8076843	1.00[AMR][1000 genomes]
rs8077259	1.00[AMR][1000 genomes]
rs8077822	1.00[AMR][1000 genomes]
rs8079346	1.00[AMR][1000 genomes]
rs8080830	1.00[AMR][1000 genomes]
rs8081561	1.00[AMR][1000 genomes]
rs9747574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer 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	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37617200-37622200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:37617200-37622200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr17:37617200-37622400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
7	chr17:37620200-37622200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:37620200-37622400	Enhancers	Spleen	Spleen
9	chr17:37620200-37622600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:37620400-37622200	Enhancers	Fetal Brain Male	brain
12	chr17:37620400-37622200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr17:37620400-37622200	Active TSS	K562	blood
14	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:37620600-37622200	Enhancers	Brain Cingulate Gyrus	brain
17	chr17:37620600-37622400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:37620600-37622400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr17:37620600-37623600	Weak transcription	Fetal Heart	heart
20	chr17:37620600-37625400	Weak transcription	NHDF-Ad	bronchial
21	chr17:37620800-37622200	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr17:37620800-37622200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr17:37620800-37622400	Enhancers	Fetal Lung	lung
24	chr17:37620800-37625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:37620800-37626800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr17:37620800-37627200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:37621000-37622200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:37621000-37622200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr17:37621000-37623400	Weak transcription	Fetal Muscle Leg	muscle
30	chr17:37621000-37623600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:37621000-37623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:37621000-37623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr17:37621000-37623600	Weak transcription	Fetal Kidney	kidney
34	chr17:37621000-37626600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:37621000-37626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:37621000-37627000	Weak transcription	HSMMtube	muscle
37	chr17:37621000-37627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr17:37621000-37627200	Weak transcription	Right Ventricle	heart
39	chr17:37621000-37627600	Weak transcription	Colonic Mucosa	Colon
40	chr17:37621200-37622200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:37621200-37622200	Enhancers	Liver	Liver
42	chr17:37621200-37622400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr17:37621200-37622400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr17:37621200-37623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:37621200-37624000	Weak transcription	Osteobl	bone
46	chr17:37621200-37624400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr17:37621200-37625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:37621200-37626800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr17:37621200-37626800	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:37621200-37626800	Weak transcription	HMEC	breast

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