Variant report

Variant	rs807206
Chromosome Location	chr6:26088289-26088290
allele	A/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	chr6:26087647-26088410	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:26087751-26088291	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr6:26087958-26088307	T-47D	breast:	n/a	n/a
4	ELF1	chr6:26087767-26088353	HepG2	liver:	n/a	chr6:26087967-26087979
5	ZBTB7A	chr6:26087532-26088388	K562	blood:	n/a	chr6:26088241-26088250
6	MAX	chr6:26087609-26088345	K562	blood:	n/a	n/a
7	POLR2A	chr6:26087499-26088325	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr6:26087507-26088381	GM12878	blood:	n/a	chr6:26087967-26087979
9	TEAD4	chr6:26087444-26088516	K562	blood:	n/a	n/a
10	CCNT2	chr6:26087586-26088300	K562	blood:	n/a	chr6:26087953-26087962
11	ELF1	chr6:26087812-26088364	K562	blood:	n/a	chr6:26087967-26087979
12	HDAC2	chr6:26087551-26088329	HepG2	liver:	n/a	n/a
13	ELF1	chr6:26087566-26088373	K562	blood:	n/a	chr6:26087967-26087979
14	MYBL2	chr6:26087644-26088461	HepG2	liver:	n/a	n/a
15	CTCF	chr6:26088160-26088310	GM06990	blood:	n/a	n/a
16	POLR2A	chr6:26087550-26088450	K562	blood:	n/a	n/a
17	CTCF	chr6:26088140-26088290	GM12875	blood:	n/a	n/a
18	EGR1	chr6:26087608-26088331	K562	blood:	n/a	chr6:26087948-26087961 chr6:26088237-26088250 chr6:26087995-26088002 chr6:26087994-26088009 chr6:26088234-26088241 chr6:26087995-26088008 chr6:26087996-26088007 chr6:26087780-26087789 chr6:26087777-26087790
19	ZC3H11A	chr6:26087621-26088345	K562	blood:	n/a	n/a
20	JUND	chr6:26088005-26088313	HepG2	liver:	n/a	n/a
21	MAX	chr6:26087441-26088441	A549	lung:	n/a	n/a
22	MTA3	chr6:26087696-26088526	GM12878	blood:	n/a	n/a
23	GABPA	chr6:26087935-26088372	K562	blood:	n/a	n/a
24	BHLHE40	chr6:26088038-26088354	K562	blood:	n/a	n/a
25	POLR2A	chr6:26087450-26088455	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr6:26087690-26088296	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:26087541-26088330	K562	blood:	n/a	n/a
28	POLR2A	chr6:26087589-26088291	HepG2	liver:	n/a	n/a
29	TAF1	chr6:26087554-26088302	HepG2	liver:	n/a	n/a
30	CTCF	chr6:26088177-26088290	GM12891	blood:	n/a	n/a
31	POLR2A	chr6:26087545-26088329	K562	blood:	n/a	n/a
32	CBX3	chr6:26087381-26088346	K562	blood:	n/a	n/a
33	HCFC1	chr6:26087557-26088323	K562	blood:	n/a	n/a
34	CTCF	chr6:26088160-26088310	AG04449	skin:	n/a	n/a
35	MXI1	chr6:26087687-26088326	HepG2	liver:	n/a	n/a
36	CTCF	chr6:26088140-26088290	GM12865	blood:	n/a	n/a
37	HDAC2	chr6:26087836-26088291	K562	blood:	n/a	n/a
38	CTCF	chr6:26088170-26088321	GM19238	blood:	n/a	n/a
39	POLR2A	chr6:26087534-26088387	HUVEC	blood vessel:	n/a	n/a
40	ELF1	chr6:26087940-26088334	HepG2	liver:	n/a	chr6:26087967-26087979
41	CTCF	chr6:26088200-26088350	HMEC	breast:	n/a	n/a
42	POLR2A	chr6:26087582-26088334	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:26087682-26088414	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr6:26088104-26088321	A549	lung:	n/a	n/a
45	MAX	chr6:26088015-26088368	K562	blood:	n/a	n/a
46	MAX	chr6:26087512-26088336	K562	blood:	n/a	n/a
47	ZBTB7A	chr6:26088087-26088383	K562	blood:	n/a	chr6:26088241-26088250
48	E2F6	chr6:26088100-26088314	K562	blood:	n/a	chr6:26088246-26088253 chr6:26088246-26088253 chr6:26088242-26088254 chr6:26088246-26088253
49	CTCF	chr6:26088180-26088330	HCM	heart:	n/a	n/a
50	TAF1	chr6:26087980-26088296	PFSK-1	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H1T-1	chr6:26086519-26088383	NONHSAT108208

Variant related genes	Relation type
HFE	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1090949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150661	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150662	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1165173	1.00[ASN][1000 genomes]
rs1179007	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169221	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs199735	1.00[ASN][1000 genomes]
rs199742	1.00[ASN][1000 genomes]
rs199746	1.00[ASN][1000 genomes]
rs199757	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2575172	1.00[ASN][1000 genomes]
rs2856648	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs376546	1.00[ASN][1000 genomes]
rs406622	1.00[ASN][1000 genomes]
rs420250	1.00[ASN][1000 genomes]
rs451579	1.00[ASN][1000 genomes]
rs478322	1.00[ASN][1000 genomes]
rs498548	1.00[ASN][1000 genomes]
rs514407	1.00[ASN][1000 genomes]
rs522024	1.00[ASN][1000 genomes]
rs528621	1.00[ASN][1000 genomes]
rs572123	1.00[ASN][1000 genomes]
rs62625325	1.00[ASN][1000 genomes]
rs62625345	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903253	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6928277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs707900	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707903	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807208	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26087200-26088400	Active TSS	A549	lung
2	chr6:26087200-26088400	Active TSS	Hela-S3	cervix
3	chr6:26087200-26088800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:26087400-26088400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:26087400-26088400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:26087400-26088400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:26087400-26088400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:26087400-26088400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:26087400-26088400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:26087400-26088400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:26087400-26088400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr6:26087400-26088400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:26087400-26088400	Active TSS	Aorta	Aorta
14	chr6:26087400-26088400	Active TSS	Brain Anterior Caudate	brain
15	chr6:26087400-26088400	Active TSS	Brain Hippocampus Middle	brain
16	chr6:26087400-26088400	Active TSS	Colon Smooth Muscle	Colon
17	chr6:26087400-26088400	Active TSS	Lung	lung
18	chr6:26087400-26088400	Active TSS	Small Intestine	intestine
19	chr6:26087400-26088600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:26087400-26088600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:26087400-26088600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:26087400-26088600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:26087400-26088600	Active TSS	Brain Angular Gyrus	brain
24	chr6:26087400-26088600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr6:26087400-26088600	Active TSS	Ovary	ovary
26	chr6:26087400-26088600	Active TSS	Psoas Muscle	Psoas
27	chr6:26087400-26088600	Active TSS	NHDF-Ad	bronchial
28	chr6:26087400-26088600	Active TSS	NHLF	lung
29	chr6:26087400-26088800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:26087400-26088800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:26087400-26088800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:26087400-26088800	Active TSS	Right Atrium	heart
33	chr6:26087400-26088800	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:26087400-26089200	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:26087600-26088400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:26087600-26088400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:26087800-26088400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:26087800-26088400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:26087800-26088400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:26087800-26088400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:26087800-26088400	Bivalent/Poised TSS	HepG2	liver
42	chr6:26087800-26088600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:26088000-26088400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:26088000-26088400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:26088000-26088400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:26088000-26088400	Flanking Active TSS	Fetal Heart	heart
47	chr6:26088000-26088400	Flanking Active TSS	Placenta	Placenta
48	chr6:26088000-26088400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr6:26088000-26088600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr6:26088000-26088600	Flanking Active TSS	Primary B cells from cord blood	blood

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