Variant report

Variant	rs806791
Chromosome Location	chr6:26195905-26195906
allele	C/T
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	POLR2A	chr6:26195405-26197856	GM12891	blood:	n/a	n/a
2	BRCA1	chr6:26195802-26196025	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:26195569-26197730	GM19099	blood:	n/a	n/a
4	CHD2	chr6:26195525-26195970	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:26193825-26201103	K562	blood:	n/a	n/a
6	CBX3	chr6:26193283-26196546	K562	blood:	n/a	n/a
7	RCOR1	chr6:26195516-26196476	Hela-S3	cervix:	n/a	n/a
8	ZKSCAN1	chr6:26195603-26196087	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:26187684-26208312	K562	blood:	n/a	n/a
10	POLR2A	chr6:26195351-26200889	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:26195529-26197821	HepG2	liver:	n/a	n/a
12	GTF2F1	chr6:26195599-26195965	Hela-S3	cervix:	n/a	n/a
13	ARID3A	chr6:26195665-26195933	K562	blood:	n/a	n/a
14	ELF1	chr6:26195429-26195957	MCF-7	breast:	n/a	n/a
15	ELF1	chr6:26195560-26196432	K562	blood:	n/a	n/a
16	ATF2	chr6:26194955-26200949	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr6:26195612-26196104	GM12878	blood:	n/a	n/a
18	SP2	chr6:26195475-26195951	HepG2	liver:	n/a	chr6:26195670-26195693
19	JUND	chr6:26195551-26195990	K562	blood:	n/a	chr6:26195688-26195697
20	EGR1	chr6:26194439-26196463	K562	blood:	n/a	n/a
21	HEY1	chr6:26195437-26196049	HepG2	liver:	n/a	n/a
22	FOXA1	chr6:26195528-26195991	HepG2	liver:	n/a	n/a
23	BCLAF1	chr6:26192611-26200894	K562	blood:	n/a	n/a
24	POLR2A	chr6:26195442-26197906	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr6:26195493-26196180	PFSK-1	brain:	n/a	n/a
26	TEAD4	chr6:26195724-26196118	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr6:26195462-26195983	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:26195420-26197887	GM12892	blood:	n/a	n/a
29	ELF1	chr6:26195455-26196055	HepG2	liver:	n/a	n/a
30	MBD4	chr6:26195475-26196143	HepG2	liver:	n/a	n/a
31	CUX1	chr6:26195598-26195931	K562	blood:	n/a	n/a
32	MEF2A	chr6:26194135-26196193	K562	blood:	n/a	chr6:26195361-26195382 chr6:26195194-26195209 chr6:26195365-26195376 chr6:26195364-26195375 chr6:26195361-26195382 chr6:26195366-26195375 chr6:26195363-26195378 chr6:26195362-26195378
33	SIN3A	chr6:26195633-26196310	GM12878	blood:	n/a	n/a
34	TAF1	chr6:26195519-26196034	Hela-S3	cervix:	n/a	n/a
35	REST	chr6:26195568-26195998	K562	blood:	n/a	n/a
36	TEAD4	chr6:26195541-26196070	K562	blood:	n/a	n/a
37	ATF1	chr6:26195538-26195933	K562	blood:	n/a	n/a
38	NFYA	chr6:26195509-26195934	Hela-S3	cervix:	n/a	chr6:26195684-26195699 chr6:26195684-26195698 chr6:26195684-26195699 chr6:26195686-26195696 chr6:26195684-26195702 chr6:26195684-26195697
39	POLR2A	chr6:26195642-26197728	GM18951	blood:	n/a	n/a
40	RUNX3	chr6:26195501-26196442	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:26195511-26197839	HUVEC	blood vessel:	n/a	n/a
42	GTF2F1	chr6:26195560-26195969	K562	blood:	n/a	n/a
43	CREB1	chr6:26195413-26196136	H1-hESC	embryonic stem cell:	n/a	n/a
44	POU2F2	chr6:26195495-26197894	GM12878	blood:	n/a	chr6:26196504-26196512
45	RCOR1	chr6:26195543-26195976	K562	blood:	n/a	n/a
46	POLR2A	chr6:26195423-26197907	HepG2	liver:	n/a	n/a
47	MAX	chr6:26195592-26196082	K562	blood:	n/a	n/a
48	CREB1	chr6:26195402-26197980	HepG2	liver:	n/a	chr6:26197774-26197787
49	POLR2A	chr6:26195548-26200603	U87	brain:	n/a	n/a
50	PML	chr6:26193184-26200952	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:57466580..57468767-chr6:26193927..26196753,2	K562	blood:
2	chr6:26045359..26046880-chr6:26195813..26197342,2	MCF-7	breast:
3	chr13:22104602..22105122-chr6:26195424..26196111,2	HCT-116	colon:
4	chr6:26020982..26024830-chr6:26195555..26199073,5	MCF-7	breast:
5	chr6:26193858..26202011-chr6:27112529..27117825,14	K562	blood:
6	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
7	chr6:26195729..26208268-chr6:27092660..27105612,50	K562	blood:
8	chr6:26195849..26201222-chr6:27858647..27864324,7	K562	blood:
9	chr6:26195787..26199567-chr6:27858679..27862629,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H3D-1	chr6:26194498-26196362	ncRnaDb_ncrna_FR022763_1

Variant related genes	Relation type
HIST1H2BF	TF binding region
ENSG00000233224	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196532	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000230022	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1183694	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456710	0.89[YRI][hapmap]
rs73393440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806792	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806794	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs806966	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs806967	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs806971	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806972	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806975	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs806978	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811041	0.86[YRI][hapmap]
rs9467700	1.00[MEX][hapmap]

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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26193600-26198400	Transcr. at gene 5' and 3'	K562	blood
2	chr6:26194200-26200600	Active TSS	GM12878-XiMat	blood
3	chr6:26194600-26196400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:26194600-26196800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:26194800-26196600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:26194800-26197200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:26194800-26199800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr6:26194800-26201000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:26195000-26196000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:26195000-26196000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:26195000-26196200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:26195000-26196400	Active TSS	NHEK	skin
13	chr6:26195000-26196600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:26195000-26196600	Active TSS	Brain Hippocampus Middle	brain
15	chr6:26195000-26197000	Active TSS	Brain Anterior Caudate	brain
16	chr6:26195000-26197200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:26195000-26197800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:26195000-26199800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:26195000-26200400	Active TSS	Aorta	Aorta
20	chr6:26195000-26200400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:26195000-26200600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:26195000-26200800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:26195000-26200800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:26195000-26200800	Active TSS	NHDF-Ad	bronchial
25	chr6:26195200-26196000	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:26195200-26196000	Active TSS	Liver	Liver
27	chr6:26195200-26196000	Active TSS	Fetal Intestine Large	intestine
28	chr6:26195200-26196000	Active TSS	Fetal Intestine Small	intestine
29	chr6:26195200-26196000	Active TSS	Fetal Muscle Leg	muscle
30	chr6:26195200-26196000	Active TSS	Placenta	Placenta
31	chr6:26195200-26196000	Active TSS	Fetal Thymus	thymus
32	chr6:26195200-26196200	Active TSS	Brain Substantia Nigra	brain
33	chr6:26195200-26196200	Active TSS	Fetal Heart	heart
34	chr6:26195200-26196200	Active TSS	Fetal Stomach	stomach
35	chr6:26195200-26196400	Active TSS	Duodenum Mucosa	Duodenum
36	chr6:26195200-26196400	Active TSS	A549	lung
37	chr6:26195200-26196600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:26195200-26196600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:26195200-26196600	Active TSS	Colon Smooth Muscle	Colon
40	chr6:26195200-26196600	Active TSS	Right Atrium	heart
41	chr6:26195200-26196800	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:26195200-26196800	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:26195200-26197000	Active TSS	Fetal Brain Female	brain
44	chr6:26195200-26197600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:26195200-26197600	Active TSS	Ovary	ovary
46	chr6:26195200-26200000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:26195200-26200000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:26195200-26200000	Active TSS	NHLF	lung
49	chr6:26195200-26200600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:26195200-26200600	Active TSS	Brain Angular Gyrus	brain

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