Variant report

Variant	rs10305679
Chromosome Location	chr1:150814802-150814803
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150813417..150816056-chr1:150946516..150948387,2	K562	blood:
2	chr1:150800531..150803502-chr1:150811550..150815655,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143418	Chromatin interaction
ENSG00000143437	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10157132	0.81[YRI][hapmap]
rs10305650	0.96[AFR][1000 genomes]
rs10305658	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305675	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305680	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305685	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs10305706	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs16832391	0.81[YRI][hapmap]
rs16839888	0.83[AMR][1000 genomes]
rs2867298	0.83[AMR][1000 genomes]
rs35831938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41496050	0.85[ASW][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs55850526	0.83[AMR][1000 genomes]
rs56014497	0.83[AMR][1000 genomes]
rs57303926	0.83[AMR][1000 genomes]
rs74124974	0.83[AMR][1000 genomes]
rs74127010	0.83[AMR][1000 genomes]
rs74127011	0.83[AMR][1000 genomes]
rs74127036	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513824	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547614	0.81[YRI][hapmap]
rs9325979	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988459	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1010875	chr1:150796816-150845827	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv1793983	chr1:150804748-150825924	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3331092	chr1:150814692-150814835	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150783200-150816600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:150783200-150816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:150792600-150815400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150793000-150816400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
6	chr1:150793600-150815800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:150797600-150815600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:150798200-150815600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:150799600-150816600	Strong transcription	HSMM	muscle
10	chr1:150799800-150817800	Strong transcription	Primary B cells from cord blood	blood
11	chr1:150801800-150818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:150801800-150824600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:150802800-150815200	Strong transcription	Fetal Lung	lung
14	chr1:150805800-150824600	Weak transcription	HMEC	breast
15	chr1:150807200-150820800	Weak transcription	Spleen	Spleen
16	chr1:150807400-150824600	Weak transcription	A549	lung
17	chr1:150807400-150847000	Weak transcription	Colonic Mucosa	Colon
18	chr1:150808000-150821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:150808800-150847000	Weak transcription	Psoas Muscle	Psoas
20	chr1:150809000-150816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:150809000-150819200	Weak transcription	K562	blood
22	chr1:150809000-150823000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:150809000-150824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:150809000-150824600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:150809200-150820600	Weak transcription	Brain Germinal Matrix	brain
26	chr1:150809200-150824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:150809200-150846800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:150809400-150815000	Strong transcription	Liver	Liver
29	chr1:150809400-150821000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:150809400-150821000	Weak transcription	Thymus	Thymus
31	chr1:150809400-150823200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:150809600-150820400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:150809600-150846000	Weak transcription	Pancreas	Pancrea
34	chr1:150810000-150824800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:150810200-150824600	Weak transcription	NHLF	lung
36	chr1:150810400-150846600	Weak transcription	Fetal Heart	heart
37	chr1:150810600-150815000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:150811400-150815400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150812000-150815400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:150812000-150815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:150812000-150824400	Weak transcription	Fetal Brain Male	brain
42	chr1:150812000-150831200	Weak transcription	Lung	lung
43	chr1:150812000-150847000	Weak transcription	Gastric	stomach
44	chr1:150812200-150821600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:150812200-150822200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:150812200-150824600	Weak transcription	HepG2	liver
47	chr1:150812200-150824600	Weak transcription	NHEK	skin
48	chr1:150812200-150828000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:150812200-150829800	Weak transcription	HUVEC	blood vessel
50	chr1:150812200-150834000	Weak transcription	Brain Angular Gyrus	brain

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