Variant report

Variant	rs73421732
Chromosome Location	chr7:104674649-104674650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:104674122-104674876	K562	blood:	n/a	n/a
2	POLR2A	chr7:104674330-104675229	GM12878	blood:	n/a	n/a
3	MYC	chr7:104674233-104674656	K562	blood:	n/a	n/a
4	SPI1	chr7:104674199-104674666	HL-60	blood:	n/a	n/a
5	POLR2A	chr7:104674485-104674695	HepG2	liver:	n/a	n/a
6	BHLHE40	chr7:104674209-104674976	K562	blood:	n/a	n/a
7	IRF1	chr7:104674418-104674781	K562	blood:	n/a	n/a
8	POLR2A	chr7:104674378-104674798	K562	blood:	n/a	n/a
9	POLR2A	chr7:104674319-104675102	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:104674490-104674669	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104674502..104677461-chr7:104680943..104682648,2	K562	blood:
2	chr7:104673376..104675042-chr7:104676149..104678178,2	K562	blood:
3	chr7:104672300..104674897-chr7:104678765..104680844,2	MCF-7	breast:
4	chr7:104668518..104671395-chr7:104673545..104677138,3	MCF-7	breast:

No data

Variant related genes	Relation type
KMT2E	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs56007018	1.00[AMR][1000 genomes]
rs56397729	1.00[AMR][1000 genomes]
rs57369490	1.00[AMR][1000 genomes]
rs57437921	1.00[AMR][1000 genomes]
rs57834400	1.00[AMR][1000 genomes]
rs58052615	1.00[AMR][1000 genomes]
rs58436549	1.00[AMR][1000 genomes]
rs58652912	1.00[AMR][1000 genomes]
rs58727441	1.00[AMR][1000 genomes]
rs59672048	1.00[AMR][1000 genomes]
rs59965211	1.00[AMR][1000 genomes]
rs60336509	1.00[AMR][1000 genomes]
rs60649764	1.00[AMR][1000 genomes]
rs60711291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60977282	1.00[AMR][1000 genomes]
rs61258714	1.00[AMR][1000 genomes]
rs73404009	1.00[AMR][1000 genomes]
rs73404010	1.00[AMR][1000 genomes]
rs73404019	1.00[AMR][1000 genomes]
rs73404022	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404030	1.00[AMR][1000 genomes]
rs73404039	1.00[AMR][1000 genomes]
rs73404052	1.00[AMR][1000 genomes]
rs73404060	1.00[AMR][1000 genomes]
rs73404066	1.00[AMR][1000 genomes]
rs73404071	1.00[AMR][1000 genomes]
rs73404094	1.00[AMR][1000 genomes]
rs73417640	1.00[AMR][1000 genomes]
rs73417643	1.00[AMR][1000 genomes]
rs73417647	1.00[AMR][1000 genomes]
rs73417652	1.00[AMR][1000 genomes]
rs73417661	1.00[AMR][1000 genomes]
rs73417662	1.00[AMR][1000 genomes]
rs73417667	1.00[AMR][1000 genomes]
rs73417669	1.00[AMR][1000 genomes]
rs73417674	1.00[AMR][1000 genomes]
rs73419733	1.00[AMR][1000 genomes]
rs73419738	1.00[AMR][1000 genomes]
rs73419746	1.00[AMR][1000 genomes]
rs73419748	1.00[AMR][1000 genomes]
rs73419776	1.00[AMR][1000 genomes]
rs73419784	1.00[AMR][1000 genomes]
rs73419799	1.00[AMR][1000 genomes]
rs73419801	1.00[AMR][1000 genomes]
rs73421715	1.00[AMR][1000 genomes]
rs73421755	1.00[AMR][1000 genomes]
rs73421758	1.00[AMR][1000 genomes]
rs73421762	1.00[AMR][1000 genomes]
rs73714148	1.00[AMR][1000 genomes]
rs73714170	1.00[AMR][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
5	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:104663200-104679400	Weak transcription	Fetal Brain Female	brain
8	chr7:104664400-104681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:104665200-104679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:104665600-104675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:104665600-104681600	Weak transcription	NH-A	brain
12	chr7:104665600-104682200	Weak transcription	HMEC	breast
13	chr7:104665600-104682200	Weak transcription	HSMMtube	muscle
14	chr7:104666400-104679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:104666400-104681000	Weak transcription	NHEK	skin
16	chr7:104666400-104681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:104666400-104681400	Weak transcription	Colonic Mucosa	Colon
18	chr7:104666600-104676800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:104666800-104681600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:104667000-104674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:104667000-104681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:104667000-104681200	Weak transcription	HepG2	liver
23	chr7:104667400-104681000	Weak transcription	Hela-S3	cervix
24	chr7:104667800-104676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:104667800-104679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:104668000-104676400	Weak transcription	NHLF	lung
27	chr7:104668200-104677000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:104668200-104679400	Weak transcription	Fetal Lung	lung
29	chr7:104668200-104685000	Weak transcription	HUVEC	blood vessel
30	chr7:104669200-104679400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:104669400-104677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:104669600-104685000	Weak transcription	Esophagus	oesophagus
33	chr7:104670400-104676800	Weak transcription	Primary T cells from cord blood	blood
34	chr7:104670400-104684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:104670400-104685000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:104671000-104678600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:104671200-104679400	Weak transcription	Fetal Kidney	kidney
38	chr7:104671600-104675000	Strong transcription	Fetal Intestine Small	intestine
39	chr7:104671600-104680800	Weak transcription	Fetal Heart	heart
40	chr7:104671800-104681800	Weak transcription	Pancreas	Pancrea
41	chr7:104671800-104685000	Weak transcription	Aorta	Aorta
42	chr7:104672400-104675200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:104672800-104674800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:104672800-104675000	Strong transcription	Fetal Stomach	stomach
45	chr7:104672800-104676400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:104672800-104677800	Weak transcription	Placenta	Placenta
47	chr7:104673000-104675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:104673000-104675000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:104673000-104675200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:104673000-104685000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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