Variant report

Variant	rs7857679
Chromosome Location	chr9:97803860-97803861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97802158..97803981-chr9:97806425..97808316,2	K562	blood:
2	chr9:97792342..97793987-chr9:97802659..97804912,2	K562	blood:
3	chr9:97803206..97809214-chr9:97809347..97813672,8	MCF-7	breast:
4	chr9:97794089..97795756-chr9:97801437..97804399,2	K562	blood:
5	chr9:97799572..97803967-chr9:97808050..97811094,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1004373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117370	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119512	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121760	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10123819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1020963	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10512253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10761364	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761366	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10761368	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10761369	0.84[EUR][1000 genomes]
rs10761372	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10993427	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10993464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1113102	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1412488	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1564234	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1571894	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1571895	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2061800	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404305	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802454	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3802456	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3858089	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4537362	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743981	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4743982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743984	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744422	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4744423	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744424	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744425	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744428	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744430	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4744432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744435	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4744436	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479588	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6479591	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479592	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020709	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7021351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7022452	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7043705	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7048786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7048941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851173	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7854831	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7862156	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863291	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865144	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7871218	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7873479	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7873567	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs962229	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7857679	hCG_2003663	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97770800-97810000	Weak transcription	Primary T cells from cord blood	blood
2	chr9:97789000-97806200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:97793400-97810400	Weak transcription	HUVEC	blood vessel
4	chr9:97794200-97805800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:97794200-97807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:97794400-97806000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:97794600-97805000	Weak transcription	Fetal Thymus	thymus
8	chr9:97795000-97810400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:97795200-97804000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:97795400-97806200	Genic enhancers	A549	lung
11	chr9:97795600-97806000	Weak transcription	Lung	lung
12	chr9:97795600-97808600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:97797000-97807800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:97798200-97804400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:97798200-97808600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:97799400-97807600	Weak transcription	Thymus	Thymus
17	chr9:97799400-97810000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:97799800-97805400	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:97799800-97806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:97800000-97808600	Genic enhancers	Liver	Liver
21	chr9:97800200-97806200	Strong transcription	Osteobl	bone
22	chr9:97800400-97806000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:97800400-97806000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:97800600-97804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:97800600-97805600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:97800600-97806000	Weak transcription	Adipose Nuclei	Adipose
27	chr9:97800800-97804200	Genic enhancers	HepG2	liver
28	chr9:97801200-97805400	Enhancers	Brain Substantia Nigra	brain
29	chr9:97801200-97806200	Weak transcription	NHDF-Ad	bronchial
30	chr9:97801400-97805200	Enhancers	Brain Hippocampus Middle	brain
31	chr9:97801400-97806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:97801400-97807000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:97801600-97810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:97801800-97804000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:97801800-97806800	Weak transcription	HMEC	breast
36	chr9:97801800-97807000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr9:97802000-97804200	Enhancers	Colonic Mucosa	Colon
38	chr9:97802000-97804200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:97802200-97804000	Enhancers	Duodenum Mucosa	Duodenum
40	chr9:97802200-97804000	Enhancers	Fetal Kidney	kidney
41	chr9:97802200-97804200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr9:97802200-97804200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:97802200-97805200	Enhancers	Fetal Intestine Large	intestine
44	chr9:97802200-97807600	Strong transcription	HSMM	muscle
45	chr9:97802400-97804000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:97802400-97804200	Enhancers	Fetal Heart	heart
47	chr9:97802400-97805200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:97802400-97805200	Enhancers	Brain Angular Gyrus	brain
49	chr9:97802400-97807200	Strong transcription	HSMMtube	muscle
50	chr9:97802600-97804000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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