Variant report

Variant	rs73393433
Chromosome Location	chr6:26163792-26163793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26163409-26165302	K562	blood:	n/a	n/a
2	POLR2A	chr6:26162068-26164788	K562	blood:	n/a	n/a
3	POLR2A	chr6:26163589-26164183	K562	blood:	n/a	n/a
4	GATA1	chr6:26163540-26164441	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:26162758..26165720-chr6:27106802..27109044,2	MCF-7	breast:
2	chr6:26160979..26163905-chr6:26498112..26500480,2	K562	blood:
3	chr6:26161523..26164154-chr6:26581877..26584576,2	K562	blood:
4	chr6:26019525..26036768-chr6:26154463..26163826,38	MCF-7	breast:

No data

Variant related genes	Relation type
LARP1P1	TF binding region
ENSG00000198339	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000124529	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11965752	1.00[AMR][1000 genomes]
rs56860308	1.00[AMR][1000 genomes]
rs59376350	1.00[AMR][1000 genomes]
rs59941327	1.00[AMR][1000 genomes]
rs60479541	1.00[AMR][1000 genomes]
rs61605502	1.00[AMR][1000 genomes]
rs6901777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387409	1.00[AMR][1000 genomes]
rs73387422	1.00[AMR][1000 genomes]
rs73387434	1.00[AMR][1000 genomes]
rs73389453	1.00[AMR][1000 genomes]
rs73393407	1.00[AMR][1000 genomes]
rs73393431	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393455	1.00[AMR][1000 genomes]
rs73393462	1.00[AMR][1000 genomes]
rs73395318	1.00[AMR][1000 genomes]
rs73395332	1.00[AMR][1000 genomes]
rs73399338	1.00[AMR][1000 genomes]
rs73399361	1.00[AMR][1000 genomes]
rs7741632	1.00[AMR][1000 genomes]
rs7748602	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
8	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
9	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
10	nsv916992	chr6:25991630-26280921	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1159 gene(s)	inside rSNPs	diseases
11	nsv1028232	chr6:26005449-26319756	Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1171 gene(s)	inside rSNPs	diseases
12	nsv870314	chr6:26008435-26280807	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1151 gene(s)	inside rSNPs	diseases
13	nsv1023457	chr6:26014014-26305407	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1170 gene(s)	inside rSNPs	diseases
14	nsv1025493	chr6:26026870-26223838	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1001 gene(s)	inside rSNPs	diseases
15	nsv1023979	chr6:26026870-26287399	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1113 gene(s)	inside rSNPs	diseases
16	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
17	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
18	nsv482348	chr6:26082709-26261136	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	799 gene(s)	inside rSNPs	diseases
19	nsv518431	chr6:26148311-26211368	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases
20	nsv526456	chr6:26148311-26211368	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	521 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26158800-26164400	Weak transcription	Spleen	Spleen
2	chr6:26159800-26164400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:26159800-26171800	Weak transcription	Lung	lung
4	chr6:26160000-26171800	Weak transcription	Ovary	ovary
5	chr6:26160200-26165000	Weak transcription	Right Atrium	heart
6	chr6:26160200-26170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:26160200-26171600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:26160200-26171600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:26160400-26163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:26160400-26165400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:26160400-26171200	Weak transcription	Osteobl	bone
12	chr6:26160400-26171400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:26160400-26171600	Weak transcription	Right Ventricle	heart
14	chr6:26160400-26171600	Weak transcription	HSMMtube	muscle
15	chr6:26160400-26171800	Weak transcription	Esophagus	oesophagus
16	chr6:26160600-26164000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:26160600-26164000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:26160600-26164400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:26160600-26165800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:26160600-26169400	Weak transcription	Fetal Kidney	kidney
21	chr6:26160600-26170200	Weak transcription	Hela-S3	cervix
22	chr6:26160600-26170400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:26160600-26170600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:26160600-26171200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:26160600-26171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:26160600-26171200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:26160600-26171200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:26160600-26171400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:26160600-26171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:26160600-26171400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:26160600-26171400	Weak transcription	Psoas Muscle	Psoas
32	chr6:26160600-26171600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:26160600-26171600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:26160600-26171600	Weak transcription	Aorta	Aorta
35	chr6:26160600-26171600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:26160600-26171600	Weak transcription	Brain Substantia Nigra	brain
37	chr6:26160600-26171800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:26160800-26163800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:26160800-26164000	Weak transcription	Pancreas	Pancrea
40	chr6:26160800-26164400	Weak transcription	Placenta	Placenta
41	chr6:26160800-26168800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:26160800-26169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:26160800-26171000	Weak transcription	Fetal Lung	lung
44	chr6:26160800-26171200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:26160800-26171200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:26160800-26171400	Weak transcription	Brain Anterior Caudate	brain
47	chr6:26160800-26171600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:26160800-26171600	Weak transcription	Colonic Mucosa	Colon
49	chr6:26161000-26164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:26161200-26169800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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