Variant report

Variant	rs806798
Chromosome Location	chr6:26214473-26214474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr6:26214432-26215276	K562	blood:	n/a	n/a
2	POLR2A	chr6:26213900-26218742	K562	blood:	n/a	n/a
3	BCLAF1	chr6:26213034-26218725	K562	blood:	n/a	chr6:26213177-26213185
4	YY1	chr6:26214298-26214527	K562	blood:	n/a	n/a
5	POLR2A	chr6:26213353-26218625	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:26213023-26219134	K562	blood:	n/a	n/a
7	CEBPD	chr6:26213028-26218710	K562	blood:	n/a	n/a
8	TEAD4	chr6:26213069-26218824	K562	blood:	n/a	n/a
9	POLR2A	chr6:26214307-26214699	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:26213640-26215375	K562	blood:	n/a	n/a
11	CBX3	chr6:26213148-26218439	K562	blood:	n/a	n/a
12	PML	chr6:26213013-26218458	K562	blood:	n/a	n/a
13	POLR2A	chr6:26213799-26218815	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:26214181-26218842	K562	blood:	n/a	n/a
15	POLR2A	chr6:26213125-26218236	K562	blood:	n/a	n/a
16	POLR2A	chr6:26214325-26218833	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCLAF1	chr6:26213219-26218624	K562	blood:	n/a	n/a
18	POLR2A	chr6:26213902-26218746	K562	blood:	n/a	n/a
19	HEY1	chr6:26213450-26218875	K562	blood:	n/a	n/a
20	POLR2A	chr6:26212990-26218868	K562	blood:	n/a	n/a
21	NR2F2	chr6:26212936-26218818	K562	blood:	n/a	n/a
22	SIN3AK20	chr6:26213029-26218335	K562	blood:	n/a	n/a
23	MAX	chr6:26214267-26214690	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26213147..26214889-chr6:27777275..27779156,2	K562	blood:
2	chr17:57914044..57915959-chr6:26214314..26217277,2	MCF-7	breast:
3	chr6:26213328..26219374-chr6:27098401..27104203,12	MCF-7	breast:
4	chr6:26214142..26215773-chr8:112896843..112899051,2	MCF-7	breast:
5	chr6:26214207..26218801-chr6:27106442..27111603,7	MCF-7	breast:
6	chr16:3060917..3063376-chr6:26214256..26216912,2	MCF-7	breast:
7	chr11:65194325..65196313-chr6:26214242..26216837,2	K562	blood:
8	chr6:26212513..26218940-chr6:27112008..27117016,14	K562	blood:
9	chr19:30432252..30434729-chr6:26214115..26216902,2	MCF-7	breast:
10	chr21:30671330..30674123-chr6:26212475..26214729,2	K562	blood:
11	chr6:26211178..26214862-chr6:27112008..27116499,5	K562	blood:
12	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
13	chr6:26213022..26215019-chr6:27097039..27098586,2	K562	blood:
14	chr6:26212386..26215275-chr6:26986900..26988735,2	MCF-7	breast:
15	chr6:26214292..26216427-chrX:153629592..153631325,2	MCF-7	breast:
16	chr6:26212467..26219073-chr6:27112587..27119625,13	MCF-7	breast:
17	chr6:26213820..26217915-chr6:27859360..27862633,4	K562	blood:
18	chr6:26211090..26218818-chr6:27857037..27863909,13	K562	blood:
19	chr6:26024741..26028835-chr6:26213584..26218792,8	MCF-7	breast:
20	chr6:26214053..26216672-chr6:27805334..27807416,2	MCF-7	breast:
21	chr6:26214026..26215791-chr6:26515389..26517165,2	K562	blood:
22	chr1:45187354..45188884-chr6:26213645..26216496,2	MCF-7	breast:
23	chr6:26213863..26216212-chr7:5636879..5638961,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AE	TF binding region
ENSG00000213937	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000156273	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000224843	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000105176	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000238621	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2179517	0.82[EUR][1000 genomes]
rs806789	0.81[EUR][1000 genomes]
rs806795	0.85[EUR][1000 genomes]
rs806977	0.81[EUR][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	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	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
18	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26206800-26215200	Weak transcription	Right Atrium	heart
2	chr6:26207000-26215400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:26207800-26214800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:26207800-26215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:26208000-26214600	Weak transcription	Primary B cells from cord blood	blood
6	chr6:26208000-26215400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:26208000-26215600	Weak transcription	Brain Angular Gyrus	brain
8	chr6:26208200-26214800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:26208200-26215000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:26208200-26215400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:26208200-26215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:26208800-26215600	Weak transcription	Dnd41	blood
13	chr6:26211400-26215000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:26212800-26215200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:26213400-26215000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:26213600-26215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:26213600-26215400	Weak transcription	HUVEC	blood vessel
18	chr6:26213800-26215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:26213800-26215000	Enhancers	Fetal Thymus	thymus
20	chr6:26213800-26215200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:26214000-26215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:26214000-26215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:26214000-26219000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:26214200-26215800	Active TSS	K562	blood
25	chr6:26214200-26218600	Active TSS	Fetal Kidney	kidney
26	chr6:26214400-26214600	Flanking Active TSS	Thymus	Thymus
27	chr6:26214400-26215000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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