Variant report

Variant	rs72834678
Chromosome Location	chr6:26108375-26108376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr6:26108319-26108540	K562	blood:	n/a	chr6:26108407-26108422
2	POLR2A	chr6:26108096-26108407	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:26107743-26108531	K562	blood:	n/a	n/a
4	POLR2A	chr6:26107808-26108524	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:26108006-26108484	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:26108127-26108521	K562	blood:	n/a	n/a
7	TAF7	chr6:26108060-26108439	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:26108144-26108397	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26108335-26108385	NB4	blood:	n/a
2	chr6:26108335-26108385	AG04450	lung:	fetal
3	chr6:26108372-26108422	PFSK-1	brain:	n/a
4	chr6:26108335-26108385	BJ	skin:	n/a
5	chr6:26108372-26108422	CMK	blood:	n/a
6	chr6:26108372-26108422	LNCaP	prostate:	n/a
7	chr6:26108335-26108385	Caco-2	colon:	n/a
8	chr6:26108372-26108422	H1-hESC	embryonic stem cell:	embryo
9	chr6:26108335-26108385	SK-N-MC	brain:	n/a
10	chr6:26108335-26108385	ovcar-3	ovarian:	n/a
11	chr6:26108335-26108385	NH-A	brain:	n/a
12	chr6:26108372-26108422	MCF-7	breast:	n/a
13	chr6:26108372-26108422	SK-N-SH_RA	brain:	n/a
14	chr6:26108372-26108422	ovcar-3	ovarian:	n/a
15	chr6:26108372-26108422	HRCEpiC	kidney:	n/a
16	chr6:26108335-26108385	CMK	blood:	n/a
17	chr6:26108372-26108422	ProgFib	skin:	n/a
18	chr6:26108335-26108385	IMR90	lung:	fetal
19	chr6:26108335-26108385	HRE	kidney:	n/a
20	chr6:26108372-26108422	AG10803	skin:	n/a
21	chr6:26108335-26108385	GM12891	blood:	n/a
22	chr6:26108372-26108422	NB4	blood:	n/a
23	chr6:26108372-26108422	HAEpiC	amniotic membrane:	n/a
24	chr6:26108372-26108422	NHBE	bronchial:	n/a
25	chr6:26108372-26108422	Hela-S3	cervix:	n/a
26	chr6:26108335-26108385	Hepatocyte	liver:	n/a
27	chr6:26108372-26108422	HL-60	blood:	n/a
28	chr6:26108372-26108422	GM06990	blood:	n/a
29	chr6:26108372-26108422	Jurkat	blood:	n/a
30	chr6:26108372-26108422	SKMC	muscle:	n/a
31	chr6:26108372-26108422	AG09309	skin:	n/a
32	chr6:26108335-26108385	GM12878	blood:	n/a
33	chr6:26108372-26108422	ECC-1	luminal epithelium:	n/a
34	chr6:26108372-26108422	GM19239	blood:	n/a
35	chr6:26108335-26108385	GM12892	blood:	n/a
36	chr6:26108335-26108385	AG04449	skin:	fetal
37	chr6:26108372-26108422	HRPEpiC	eye:	n/a
38	chr6:26108372-26108422	HCM	heart:	n/a
39	chr6:26108372-26108422	HepG2	liver:	n/a
40	chr6:26108372-26108422	SK-N-SH	brain:	n/a
41	chr6:26108335-26108385	HepG2	liver:	n/a
42	chr6:26108335-26108385	HIPEpiC	eye:	n/a
43	chr6:26108335-26108385	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:26108372-26108422	HCT-116	colon:	n/a
45	chr6:26108372-26108422	Hepatocyte	liver:	n/a
46	chr6:26108335-26108385	AG09319	gingival:	n/a
47	chr6:26108372-26108422	HEK293	kidney:	embryo
48	chr6:26108335-26108385	H1-hESC	embryonic stem cell:	embryo
49	chr6:26108335-26108385	AG10803	skin:	n/a
50	chr6:26108335-26108385	HEK293	kidney:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26107231..26108901-chr6:27858333..27860619,2	K562	blood:
2	chr6:26052762..26068184-chr6:26093226..26113078,68	MCF-7	breast:
3	chr6:26019620..26034082-chr6:26100355..26110400,33	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H1T	TF binding region
HIST1H1T	CpG island
ENSG00000124693	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17531978	0.82[ASN][1000 genomes]
rs17596719	0.85[ASN][1000 genomes]
rs1800758	0.82[ASN][1000 genomes]
rs3819406	0.82[ASN][1000 genomes]
rs62396181	0.84[ASN][1000 genomes]
rs72834689	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26104800-26117600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:26104800-26118800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:26104800-26122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:26105000-26122600	Weak transcription	Right Atrium	heart
5	chr6:26105800-26109200	Weak transcription	Placenta	Placenta
6	chr6:26106200-26110200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:26107600-26122800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:26108000-26108400	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr6:26108200-26108400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:26108200-26112200	Weak transcription	K562	blood

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