Variant report

Variant	rs59620817
Chromosome Location	chr6:26202579-26202580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:26202335-26202722	K562	blood:	n/a	n/a
2	POLR2A	chr6:26187684-26208312	K562	blood:	n/a	n/a
3	TEAD4	chr6:26202210-26202934	K562	blood:	n/a	n/a
4	YY1	chr6:26202254-26202646	K562	blood:	n/a	n/a
5	POLR2A	chr6:26202339-26202837	K562	blood:	n/a	n/a
6	CCNT2	chr6:26202465-26202656	K562	blood:	n/a	n/a
7	POLR2A	chr6:26202290-26202935	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr6:26202441-26202900	K562	blood:	n/a	n/a
9	POLR2A	chr6:26202488-26202829	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:26202404-26202855	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:26202264-26202875	K562	blood:	n/a	n/a
12	TAF1	chr6:26202462-26202793	K562	blood:	n/a	n/a
13	POLR2A	chr6:26186607-26208345	K562	blood:	n/a	n/a
14	PML	chr6:26201372-26202946	K562	blood:	n/a	n/a
15	HEY1	chr6:26201111-26202945	K562	blood:	n/a	n/a
16	POLR2A	chr6:26202488-26202759	K562	blood:	n/a	n/a
17	POLR2A	chr6:26193612-26202893	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:26202314-26202722	K562	blood:	n/a	n/a
19	POLR2A	chr6:26202370-26202895	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr6:26202521-26202885	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCLAF1	chr6:26201050-26207393	K562	blood:	n/a	chr6:26201585-26201594 chr6:26204683-26204696

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26201617..26205446-chr6:27775076..27778001,4	K562	blood:
2	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
3	chr6:26201657..26204430-chr6:27803737..27806295,2	K562	blood:
4	chr6:26196862..26203126-chr6:27774221..27779033,8	MCF-7	breast:
5	chr6:26202461..26206307-chr6:27111685..27116147,8	K562	blood:
6	chr6:26199734..26202965-chr6:27114829..27116362,3	MCF-7	breast:
7	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
8	chr1:149856931..149859975-chr6:26202139..26205611,5	MCF-7	breast:
9	chr6:26202344..26207712-chr6:27112121..27116672,11	K562	blood:
10	chr6:26200995..26208208-chr6:27098278..27102268,10	MCF-7	breast:
11	chr6:26201557..26204419-chr6:27859864..27863370,3	K562	blood:
12	chr6:26201927..26205994-chr6:27859683..27862837,3	K562	blood:
13	chr6:26197916..26207803-chr6:27772547..27779655,13	K562	blood:
14	chr6:26031804..26034805-chr6:26202147..26206144,5	MCF-7	breast:
15	chr6:26200530..26203137-chr6:27861093..27863102,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2AD	TF binding region
HIST1H3D	TF binding region
HIST1H4E	TF binding region
ENSG00000233224	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000196747	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs41266825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55674533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56049309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973463	1.00[AMR][1000 genomes]
rs73397366	1.00[EUR][1000 genomes]
rs73736553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736555	1.00[EUR][1000 genomes]
rs73736558	1.00[AMR][1000 genomes]
rs73736559	1.00[EUR][1000 genomes]
rs73736560	1.00[EUR][1000 genomes]
rs73736561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736562	1.00[EUR][1000 genomes]
rs73736566	1.00[EUR][1000 genomes]
rs73736574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv883490	chr6:26172219-26231608	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	316 gene(s)	inside rSNPs	diseases
20	nsv1021294	chr6:26190316-26246784	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	309 gene(s)	inside rSNPs	diseases
21	nsv969356	chr6:26199899-26204393	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26200200-26204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26200200-26204200	Weak transcription	Left Ventricle	heart
3	chr6:26200200-26204200	Weak transcription	Spleen	Spleen
4	chr6:26200200-26204400	Weak transcription	Lung	lung
5	chr6:26200400-26204000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:26200400-26204000	Weak transcription	Right Atrium	heart
7	chr6:26200400-26204000	Weak transcription	Right Ventricle	heart
8	chr6:26200400-26204200	Weak transcription	Aorta	Aorta
9	chr6:26200400-26204200	Weak transcription	HSMM	muscle
10	chr6:26200600-26204000	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:26200600-26204000	Weak transcription	Colonic Mucosa	Colon
12	chr6:26200600-26204000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:26200600-26204000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:26200600-26204000	Weak transcription	Placenta	Placenta
15	chr6:26200600-26204000	Weak transcription	Fetal Stomach	stomach
16	chr6:26200600-26204200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:26200600-26204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:26200600-26204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:26200600-26204200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:26200600-26204400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:26200800-26202600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:26200800-26202600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:26200800-26203200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:26200800-26203200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:26200800-26203400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:26200800-26203400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:26200800-26203400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:26200800-26203400	Weak transcription	Fetal Brain Female	brain
29	chr6:26200800-26203400	Weak transcription	NH-A	brain
30	chr6:26200800-26203600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:26200800-26203600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:26200800-26203600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:26200800-26203600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:26200800-26203600	Weak transcription	Fetal Lung	lung
35	chr6:26200800-26203600	Weak transcription	NHEK	skin
36	chr6:26200800-26203800	Weak transcription	Fetal Kidney	kidney
37	chr6:26200800-26204000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:26200800-26204000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:26200800-26204000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:26200800-26204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:26200800-26204000	Weak transcription	Liver	Liver
42	chr6:26200800-26204000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:26200800-26204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:26200800-26204000	Weak transcription	Fetal Heart	heart
45	chr6:26200800-26204000	Weak transcription	Fetal Intestine Large	intestine
46	chr6:26200800-26204000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:26200800-26204000	Weak transcription	Osteobl	bone
48	chr6:26200800-26204200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:26200800-26204200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:26200800-26204200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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