Variant report

Variant	rs3734511
Chromosome Location	chr6:73974551-73974552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:73974255-73974581	MCF10A-Er-Src	breast:	n/a	chr6:73974398-73974409
2	FOS	chr6:73974194-73974561	MCF10A-Er-Src	breast:	n/a	chr6:73974518-73974532 chr6:73974427-73974436
3	POLR2A	chr6:73974094-73974632	MCF10A-Er-Src	breast:	n/a	n/a
4	USF1	chr6:73974222-73974665	HCT-116	colon:	n/a	n/a
5	FOS	chr6:73974235-73974577	MCF10A-Er-Src	breast:	n/a	chr6:73974518-73974532 chr6:73974427-73974436
6	POLR2A	chr6:73974054-73974589	Hela-S3	cervix:	n/a	n/a
7	FOS	chr6:73974185-73974556	MCF10A-Er-Src	breast:	n/a	chr6:73974518-73974532 chr6:73974427-73974436
8	POLR2A	chr6:73972509-73976913	K562	blood:	n/a	n/a
9	POLR2A	chr6:73974544-73974556	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73968889..73971935-chr6:73973198..73976161,3	K562	blood:
2	chr6:73970435..73971985-chr6:73974301..73976161,2	K562	blood:

Variant related genes	Relation type
ENSG00000243501	TF binding region
ENSG00000229852	TF binding region
KHDC1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13197259	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13197436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209676	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13211102	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13217787	0.84[EUR][1000 genomes]
rs16883538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16883544	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16883547	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16883555	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16883559	0.84[AMR][1000 genomes]
rs16883561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603472	0.94[ASN][1000 genomes]
rs2603474	0.94[ASN][1000 genomes]
rs2984126	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2984128	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2984130	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34602913	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34826679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34926279	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34977156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35227086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35705185	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35806061	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830226	0.84[EUR][1000 genomes]
rs35879937	0.93[EUR][1000 genomes]
rs35892768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36044937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36049164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36114303	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6915288	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71573587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71573588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71573589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71573590	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71573591	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7752970	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7758669	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs947753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1030079	chr6:73920050-73984084	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73971800-73974600	Active TSS	Brain Angular Gyrus	brain
2	chr6:73972000-73974600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:73972600-73974800	Enhancers	Stomach Mucosa	stomach
4	chr6:73973200-73975000	Flanking Active TSS	NHEK	skin
5	chr6:73973400-73974600	Enhancers	Esophagus	oesophagus
6	chr6:73973400-73974800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:73973400-73985000	Weak transcription	Small Intestine	intestine
8	chr6:73973400-73986400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:73973400-74000400	Weak transcription	Aorta	Aorta
10	chr6:73973600-73974600	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:73973600-73974600	Enhancers	Right Ventricle	heart
12	chr6:73973600-73974800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:73973600-73975000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:73973600-73976400	Weak transcription	HSMMtube	muscle
15	chr6:73973600-73978000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:73973600-73978400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:73973600-73983400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:73973600-73984400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:73973600-73985400	Weak transcription	Left Ventricle	heart
20	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:73973600-74018600	Weak transcription	A549	lung
22	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:73973800-73974600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:73973800-73974600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:73973800-73974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:73973800-73974600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:73973800-73974600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:73973800-73974600	Enhancers	Fetal Lung	lung
29	chr6:73973800-73974600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:73973800-73974600	Active TSS	Hela-S3	cervix
31	chr6:73973800-73974800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:73973800-73974800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:73973800-73974800	Enhancers	Fetal Stomach	stomach
34	chr6:73973800-73974800	Enhancers	Fetal Thymus	thymus
35	chr6:73973800-73974800	Enhancers	Thymus	Thymus
36	chr6:73973800-73974800	Enhancers	K562	blood
37	chr6:73973800-73975000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:73973800-73976400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:73973800-73976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:73973800-73976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:73973800-73977600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:73973800-73978000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:73973800-73980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:73973800-73983400	Weak transcription	Placenta	Placenta
45	chr6:73973800-73985200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:73973800-73995600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:73973800-73995600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:73973800-74000400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:73974000-73974600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:73974000-73974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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