Variant report

Variant	rs73410247
Chromosome Location	chr6:36595285-36595286
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:36595220-36595370	GM12872	blood:	n/a	n/a
2	MTA3	chr6:36595230-36596060	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36561894..36564110-chr6:36594223..36596091,2	MCF-7	breast:
2	chr6:36593706..36596301-chr6:36598254..36600267,2	MCF-7	breast:
3	chr6:36593028..36595408-chr6:36598943..36601899,2	MCF-7	breast:
4	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
5	chr6:36560666..36565212-chr6:36591951..36596292,5	K562	blood:
6	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
7	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3925	TF binding region
ENSG00000124762	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11552549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56799886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56814071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56845418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56900950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58073599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59274016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59569857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59715484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61631302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62402215	0.86[ASN][1000 genomes]
rs73408319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408360	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73408367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410228	0.91[AFR][1000 genomes]
rs73410230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410240	0.92[EUR][1000 genomes]
rs73410246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36580200-36599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:36582200-36595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:36587000-36597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:36588800-36595400	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:36590600-36596000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:36591000-36595800	Enhancers	Ovary	ovary
9	chr6:36591000-36596000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:36591200-36595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:36591200-36596000	Enhancers	Fetal Lung	lung
12	chr6:36591600-36595400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:36591600-36597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:36591800-36595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:36592400-36595600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:36592400-36596400	Weak transcription	Primary B cells from cord blood	blood
17	chr6:36592400-36597000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:36592800-36595400	Weak transcription	HMEC	breast
19	chr6:36593000-36595400	Weak transcription	Gastric	stomach
20	chr6:36593000-36595400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:36593000-36596800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:36593200-36595600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:36593400-36595400	Weak transcription	Fetal Heart	heart
24	chr6:36593400-36595400	Weak transcription	NH-A	brain
25	chr6:36593400-36599200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:36593400-36601600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:36593600-36595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:36593600-36595400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:36593600-36595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:36593600-36595400	Weak transcription	Aorta	Aorta
31	chr6:36593600-36595400	Weak transcription	HSMM	muscle
32	chr6:36593600-36595400	Weak transcription	NHDF-Ad	bronchial
33	chr6:36593600-36595400	Weak transcription	Osteobl	bone
34	chr6:36593600-36595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:36593600-36595600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:36593600-36596800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:36593600-36599000	Weak transcription	A549	lung
38	chr6:36593600-36601800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:36593800-36601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:36594200-36595600	Enhancers	GM12878-XiMat	blood
41	chr6:36594200-36595800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:36594200-36595800	Enhancers	Stomach Mucosa	stomach
43	chr6:36594400-36595400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:36594400-36595400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:36594400-36595400	Weak transcription	Hela-S3	cervix
46	chr6:36594400-36595800	Enhancers	Fetal Thymus	thymus
47	chr6:36594600-36595600	Enhancers	Lung	lung
48	chr6:36594600-36596800	Weak transcription	HUVEC	blood vessel
49	chr6:36594600-36597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:36594600-36598200	Enhancers	Spleen	Spleen

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