Variant report

Variant	rs73310176
Chromosome Location	chr7:17951446-17951447
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	chr7:17882358..17885096-chr7:17950396..17953115,2	K562	blood:
2	chr7:17951420..17953155-chr7:17980170..17981679,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10228026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230274	1.00[AMR][1000 genomes]
rs10230644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231119	0.85[AFR][1000 genomes]
rs10231226	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[AMR][1000 genomes]
rs10244018	1.00[AMR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10252726	0.82[AFR][1000 genomes]
rs10258047	0.97[AFR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270757	1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282332	0.82[AFR][1000 genomes]
rs10282571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975603	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138375	1.00[AFR][1000 genomes]
rs17138395	0.91[AFR][1000 genomes]
rs17138405	1.00[AFR][1000 genomes]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28476778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59568611	1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AMR][1000 genomes]
rs73310107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][1000 genomes]
rs73312112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17900400-17956600	Weak transcription	A549	lung
2	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
3	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
4	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:17913000-17955800	Weak transcription	K562	blood
6	chr7:17927200-17955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:17929200-17952200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:17929800-17951600	Weak transcription	Fetal Thymus	thymus
9	chr7:17929800-17954000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:17930000-17952400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:17930200-17951800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:17930200-17954200	Weak transcription	Placenta	Placenta
13	chr7:17938200-17951800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:17938800-17952800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:17941000-17951600	Weak transcription	Right Ventricle	heart
16	chr7:17941000-17952400	Weak transcription	Ovary	ovary
17	chr7:17941200-17952400	Weak transcription	Gastric	stomach
18	chr7:17941400-17958400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:17942800-17951800	Weak transcription	Left Ventricle	heart
20	chr7:17942800-17954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:17942800-17954800	Weak transcription	Pancreas	Pancrea
22	chr7:17943200-17952400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:17943800-17952400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:17943800-17956000	Weak transcription	Primary T cells from cord blood	blood
25	chr7:17944000-17953800	Weak transcription	Liver	Liver
26	chr7:17944000-17955400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:17944600-17952000	Weak transcription	Fetal Heart	heart
28	chr7:17944800-17955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:17947000-17955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:17947200-17954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:17947200-17955400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:17947400-17951800	Weak transcription	Psoas Muscle	Psoas
33	chr7:17947400-17954800	Weak transcription	Small Intestine	intestine
34	chr7:17947400-17956600	Weak transcription	Fetal Lung	lung
35	chr7:17947400-17957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:17947600-17953600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:17948200-17961000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:17948400-17960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:17948600-17962800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:17949600-17954800	Weak transcription	Fetal Intestine Small	intestine
41	chr7:17950200-17951600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:17950200-17951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:17950400-17955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:17950600-17955800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:17950800-17951800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:17950800-17956800	Weak transcription	Primary B cells from cord blood	blood
47	chr7:17951200-17951600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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