Variant report

Variant	rs7740021
Chromosome Location	chr6:73973502-73973503
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	RUNX3	chr6:73973270-73973530	GM12878	blood:	n/a	n/a
2	MAX	chr6:73972508-73973602	H1-hESC	embryonic stem cell:	n/a	chr6:73973333-73973343
3	MAX	chr6:73972711-73973641	H1-hESC	embryonic stem cell:	n/a	chr6:73973333-73973343
4	MAZ	chr6:73972817-73973537	GM12878	blood:	n/a	chr6:73973333-73973343
5	CTBP2	chr6:73972484-73973533	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:73971817-73973521	Raji	blood:	n/a	n/a
7	RCOR1	chr6:73971979-73973578	IMR90	lung:	n/a	n/a
8	POLR2A	chr6:73972217-73973644	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:73972691-73973507	K562	blood:	n/a	n/a
10	E2F6	chr6:73972528-73973509	K562	blood:	n/a	chr6:73972974-73972985 chr6:73972951-73972962
11	E2F6	chr6:73972679-73973504	Hela-S3	cervix:	n/a	chr6:73972974-73972985 chr6:73972951-73972962
12	WRNIP1	chr6:73972964-73973577	GM12878	blood:	n/a	n/a
13	E2F6	chr6:73972507-73973718	H1-hESC	embryonic stem cell:	n/a	chr6:73972974-73972985 chr6:73972951-73972962
14	MXI1	chr6:73972115-73973697	SK-N-SH	brain:	n/a	n/a
15	GABPA	chr6:73972561-73973505	K562	blood:	n/a	n/a
16	POLR2A	chr6:73972509-73976913	K562	blood:	n/a	n/a
17	MTA3	chr6:73972276-73973622	GM12878	blood:	n/a	n/a
18	MAX	chr6:73973307-73973568	K562	blood:	n/a	chr6:73973333-73973343

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73972686..73974360-chr6:74230027..74232988,2	MCF-7	breast:
2	chr6:73968889..73971935-chr6:73973198..73976161,3	K562	blood:

Variant related genes	Relation type
ENSG00000229852	TF binding region
ENSG00000243501	TF binding region
KHDC1	TF binding region
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1819732	1.00[AMR][1000 genomes]
rs2185771	1.00[AMR][1000 genomes]
rs2350370	1.00[AMR][1000 genomes]
rs4708020	1.00[AMR][1000 genomes]
rs58934581	1.00[AMR][1000 genomes]
rs61692084	1.00[AMR][1000 genomes]
rs6905395	1.00[AMR][1000 genomes]
rs6941990	1.00[AMR][1000 genomes]
rs73458589	1.00[AMR][1000 genomes]
rs73753246	1.00[AMR][1000 genomes]
rs73753264	1.00[AMR][1000 genomes]
rs73753265	1.00[AMR][1000 genomes]
rs73753268	1.00[AMR][1000 genomes]
rs7748047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7767020	1.00[AMR][1000 genomes]
rs7774477	1.00[AMR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73971800-73973600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:73971800-73973600	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr6:73971800-73973800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:73971800-73973800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:73971800-73973800	Active TSS	Brain Hippocampus Middle	brain
6	chr6:73971800-73974000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:73971800-73974000	Active TSS	Brain Cingulate Gyrus	brain
8	chr6:73971800-73974600	Active TSS	Brain Angular Gyrus	brain
9	chr6:73972000-73973600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:73972000-73973800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:73972000-73973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:73972000-73973800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:73972000-73974600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:73972200-73973600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:73972200-73973600	Active TSS	Colon Smooth Muscle	Colon
16	chr6:73972200-73973600	Active TSS	Right Atrium	heart
17	chr6:73972200-73973600	Flanking Active TSS	HUVEC	blood vessel
18	chr6:73972200-73973800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:73972200-73973800	Active TSS	Fetal Kidney	kidney
20	chr6:73972200-73974000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:73972200-73974200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:73972400-73973600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:73972400-73973600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:73972400-73973600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:73972400-73973600	Active TSS	Ovary	ovary
26	chr6:73972400-73973600	Active TSS	HSMMtube	muscle
27	chr6:73972400-73973800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:73972400-73973800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:73972400-73973800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:73972400-73973800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:73972400-73973800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:73972400-73973800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr6:73972400-73974000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:73972400-73974200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:73972600-73973600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:73972600-73973800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:73972600-73974000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:73972600-73974000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:73972600-73974800	Enhancers	Stomach Mucosa	stomach
40	chr6:73973000-73973600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:73973000-73973600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr6:73973000-73973600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:73973000-73973600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:73973000-73973600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:73973000-73973600	Flanking Active TSS	Placenta	Placenta
46	chr6:73973000-73973600	Flanking Active TSS	Right Ventricle	heart
47	chr6:73973000-73973600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr6:73973000-73973800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:73973000-73973800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:73973000-73973800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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