Variant report

Variant	rs73592819
Chromosome Location	chr6:144663726-144663727
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	MYBL2	chr6:144662530-144663799	HepG2	liver:	n/a	n/a
2	EP300	chr6:144663195-144663750	HepG2	liver:	n/a	n/a
3	TCF12	chr6:144663212-144663742	A549	lung:	n/a	n/a
4	TCF7L2	chr6:144663593-144663894	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144662894..144665141-chr6:144667747..144670464,2	K562	blood:
2	chr6:144651662..144654238-chr6:144661982..144664850,2	MCF-7	breast:

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1474627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56154144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58684675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58756941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60104486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61112175	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6570622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.96[AFR][1000 genomes]
rs73591137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592848	0.87[AMR][1000 genomes]
rs7748561	0.87[AMR][1000 genomes]
rs7749006	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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking 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	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
3	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:144653400-144665200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:144653600-144665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:144656000-144664200	Weak transcription	Fetal Kidney	kidney
7	chr6:144656000-144665200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:144656000-144665200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:144656600-144664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:144657200-144664000	Enhancers	Primary B cells from cord blood	blood
14	chr6:144657200-144664800	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:144657200-144665200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:144657400-144665000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:144657800-144666400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:144658200-144664400	Weak transcription	Fetal Intestine Large	intestine
19	chr6:144658200-144668200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:144658400-144664000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:144658400-144664400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:144658400-144670400	Weak transcription	Fetal Lung	lung
23	chr6:144658600-144664000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:144658600-144664000	Weak transcription	Fetal Thymus	thymus
25	chr6:144659200-144664800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:144659600-144665200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:144659800-144664800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:144660000-144665400	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:144660000-144667800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:144660200-144664600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:144660200-144665000	Enhancers	NHEK	skin
32	chr6:144660200-144665200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:144660200-144667600	Weak transcription	Placenta	Placenta
34	chr6:144660400-144664000	Weak transcription	Thymus	Thymus
35	chr6:144660400-144668200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:144660400-144670800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:144660800-144665400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:144661000-144666600	Enhancers	Stomach Mucosa	stomach
39	chr6:144661200-144664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:144661200-144664200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:144661200-144665200	Enhancers	Adipose Nuclei	Adipose
42	chr6:144661600-144664200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:144661600-144664400	Weak transcription	Right Atrium	heart
44	chr6:144661600-144665200	Weak transcription	Lung	lung
45	chr6:144661600-144665400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:144661600-144665400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:144661600-144666400	Weak transcription	Spleen	Spleen
48	chr6:144661600-144670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:144661600-144670800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:144661800-144664600	Weak transcription	Fetal Muscle Leg	muscle

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