Variant report

Variant	rs72834647
Chromosome Location	chr6:26043393-26043394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr6:26043359-26044766	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr6:26043180-26046720	GM12892	blood:	n/a	n/a
3	NFIC	chr6:26043271-26046700	GM12878	blood:	n/a	n/a
4	MXI1	chr6:26043247-26046992	IMR90	lung:	n/a	n/a
5	POLR2A	chr6:26043286-26044026	HL-60	blood:	n/a	n/a
6	POLR2A	chr6:26043122-26046798	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:26043135-26046646	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr6:26043213-26044009	GM12878	blood:	n/a	n/a
9	KAT2A	chr6:26043363-26045079	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:26043340-26044903	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:26043208-26043932	A549	lung:	n/a	n/a
12	MAFK	chr6:26043271-26044273	IMR90	lung:	n/a	n/a
13	POLR2A	chr6:26043226-26046775	U87	brain:	n/a	n/a
14	POLR2A	chr6:26043081-26046720	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:26043204-26046824	GM12878	blood:	n/a	n/a
16	RELA	chr6:26043355-26044861	GM19099	blood:	n/a	n/a
17	POLR2A	chr6:26043051-26046692	U87	brain:	n/a	n/a
18	MAFK	chr6:26043312-26044593	HepG2	liver:	n/a	n/a
19	PML	chr6:26043272-26044743	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:26043391-26044885	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:26043179-26045015	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:26043191-26046694	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr6:26043157-26046775	U87	brain:	n/a	n/a
24	MYBL2	chr6:26043120-26046769	HepG2	liver:	n/a	n/a
25	ZEB1	chr6:26043228-26046771	HepG2	liver:	n/a	chr6:26043391-26043399
26	RELA	chr6:26043393-26044808	GM18505	blood:	n/a	n/a
27	POLR2A	chr6:26043232-26043957	A549	lung:	n/a	n/a
28	POLR2A	chr6:26043308-26044108	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:26043262-26043946	Gliobla	brain:	n/a	n/a
30	POLR2A	chr6:26043121-26043934	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:26043211-26046558	GM12891	blood:	n/a	n/a
32	POLR2A	chr6:26043056-26046727	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr6:26043249-26046673	GM12891	blood:	n/a	n/a
34	CEBPD	chr6:26043204-26044020	HepG2	liver:	n/a	n/a
35	BCLAF1	chr6:26043220-26046641	GM12878	blood:	n/a	chr6:26043387-26043396
36	POLR2A	chr6:26043244-26045036	Hela-S3	cervix:	n/a	n/a
37	ZBTB33	chr6:26043360-26043960	GM12878	blood:	n/a	n/a
38	ZBTB33	chr6:26043270-26046780	SK-N-SH	brain:	n/a	n/a
39	NFATC1	chr6:26043301-26044784	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:26043179-26046830	PANC-1	pancreas:	n/a	n/a
41	WRNIP1	chr6:26043387-26044537	GM12878	blood:	n/a	n/a
42	NFATC1	chr6:26043278-26044908	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:26043129-26043968	MCF-7	breast:	n/a	n/a
44	CREB1	chr6:26043258-26046731	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:26043218-26045018	GM19193	blood:	n/a	n/a
46	NFIC	chr6:26043269-26044778	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:26043263-26046700	GM12891	blood:	n/a	n/a
48	POLR2A	chr6:26043047-26046763	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:26043046-26046705	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:26043262-26046675	GM18505	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26043139..26044932-chr6:27781664..27783621,2	MCF-7	breast:
2	chr15:93425116..93426959-chr6:26041379..26043913,2	MCF-7	breast:
3	chr4:74708135..74709655-chr6:26042014..26043865,4	MCF-7	breast:
4	chr6:26041051..26050922-chr6:26154916..26161227,19	MCF-7	breast:
5	chr3:47555015..47555611-chr6:26043294..26044022,2	Hela-S3	cervix:
6	chr6:26042662..26045122-chr6:26102656..26104697,2	MCF-7	breast:
7	chr6:26041361..26043937-chr6:26197910..26199861,2	MCF-7	breast:
8	chr2:202897744..202899372-chr6:26042396..26044227,2	MCF-7	breast:
9	chr2:173420176..173421056-chr6:26043358..26044247,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HIST1H3C	TF binding region
ENSG00000234816	TF binding region
ENSG00000273209	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000155760	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000197846	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1836859	0.86[AFR][1000 genomes]
rs3799369	0.86[AFR][1000 genomes]
rs72832571	1.00[AFR][1000 genomes]
rs72832583	0.86[AFR][1000 genomes]
rs72832588	0.86[AFR][1000 genomes]
rs72832593	0.86[AFR][1000 genomes]
rs72832602	0.86[AFR][1000 genomes]
rs72834621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72834627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834642	0.84[AMR][1000 genomes]
rs72834643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752351	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7766267	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases
8	nsv1015627	chr6:25973495-26100483	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
9	nsv538164	chr6:25973495-26100483	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv1026692	chr6:26027408-26067081	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	363 gene(s)	inside rSNPs	diseases
22	nsv970081	chr6:26037423-26044104	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72834647	HFE	cis	Nerve Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26034400-26048200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:26034600-26044400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26034800-26043400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:26039600-26043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:26041600-26043600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:26041800-26043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:26042000-26043400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:26042600-26043400	Enhancers	Fetal Brain Male	brain
9	chr6:26042600-26043400	Enhancers	Stomach Mucosa	stomach
10	chr6:26042600-26044400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:26042600-26044600	Active TSS	Fetal Brain Female	brain
12	chr6:26042600-26045800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:26042800-26043400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:26042800-26043400	Active TSS	Fetal Intestine Large	intestine
15	chr6:26042800-26043400	Active TSS	Fetal Intestine Small	intestine
16	chr6:26042800-26043400	Active TSS	Fetal Lung	lung
17	chr6:26043000-26043400	Active TSS	Fetal Kidney	kidney
18	chr6:26043000-26043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:26043000-26046600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:26043200-26043400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:26043200-26043400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:26043200-26043400	Active TSS	Primary T cells from cord blood	blood
23	chr6:26043200-26043400	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:26043200-26043400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:26043200-26043400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:26043200-26043400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:26043200-26043400	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:26043200-26043400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr6:26043200-26043400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:26043200-26043400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:26043200-26043400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:26043200-26043400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:26043200-26043400	Active TSS	Adipose Nuclei	Adipose
34	chr6:26043200-26043400	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:26043200-26043400	Active TSS	Brain Hippocampus Middle	brain
36	chr6:26043200-26043400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr6:26043200-26043400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:26043200-26043400	Active TSS	Brain Substantia Nigra	brain
39	chr6:26043200-26043400	Enhancers	Colonic Mucosa	Colon
40	chr6:26043200-26043400	Enhancers	Fetal Heart	heart
41	chr6:26043200-26043400	Enhancers	Left Ventricle	heart
42	chr6:26043200-26043400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr6:26043200-26043400	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:26043200-26043400	Enhancers	Right Atrium	heart
45	chr6:26043200-26043400	Enhancers	GM12878-XiMat	blood
46	chr6:26043200-26043400	Enhancers	HMEC	breast
47	chr6:26043200-26043400	Active TSS	NH-A	brain
48	chr6:26043200-26043400	Active TSS	NHDF-Ad	bronchial
49	chr6:26043200-26043400	Active TSS	NHEK	skin
50	chr6:26043200-26043400	Active TSS	NHLF	lung

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