Variant report

Variant	rs2440451
Chromosome Location	chr8:6264901-6264902
allele	A/G
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	chr8:6263630-6265140	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:6264837-6264981	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr8:6264855-6265174	K562	blood:	n/a	chr8:6265043-6265056
4	ZBTB7A	chr8:6263296-6264989	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr8:6264875-6265173	H1-hESC	embryonic stem cell:	n/a	chr8:6265043-6265056
6	MXI1	chr8:6263153-6265176	HepG2	liver:	n/a	n/a
7	GTF2F1	chr8:6264800-6264933	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr8:6264738-6265154	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:6263278-6265010	NB4	blood:	n/a	n/a
10	MAX	chr8:6264860-6265136	HepG2	liver:	n/a	chr8:6265043-6265056
11	POLR2A	chr8:6263239-6265064	GM10847	blood:	n/a	n/a
12	POLR2A	chr8:6264866-6265034	GM12878	blood:	n/a	n/a
13	TAF1	chr8:6264759-6265083	K562	blood:	n/a	n/a
14	POLR2A	chr8:6264482-6265061	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:6263101-6265055	Hela-S3	cervix:	n/a	n/a
16	GTF2F1	chr8:6264694-6264917	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr8:6264893-6265173	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:6263082-6265114	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr8:6264840-6265120	K562	blood:	n/a	n/a
21	POLR2A	chr8:6264812-6265050	HepG2	liver:	n/a	n/a
22	HCFC1	chr8:6263069-6264918	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr8:6262909-6265387	GM12891	blood:	n/a	n/a
24	POLR2A	chr8:6262960-6265138	GM12878	blood:	n/a	n/a
25	MAX	chr8:6263233-6265228	NB4	blood:	n/a	chr8:6265043-6265056
26	MXI1	chr8:6263003-6265606	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:6262610-6265080	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:6264488-6265072	H1-neurons	neurons:	n/a	n/a
29	MXI1	chr8:6264851-6265152	K562	blood:	n/a	n/a
30	MYC	chr8:6264608-6265400	MCF10A-Er-Src	breast:	n/a	chr8:6265043-6265056
31	POLR2A	chr8:6264475-6265172	HepG2	liver:	n/a	n/a
32	MYC	chr8:6264606-6265283	K562	blood:	n/a	chr8:6265043-6265056
33	POLR2A	chr8:6264792-6265071	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr8:6263264-6264914	ECC-1	luminal epithelium:	n/a	n/a
35	E2F6	chr8:6263775-6265289	H1-hESC	embryonic stem cell:	n/a	chr8:6264130-6264139 chr8:6264094-6264103
36	POLR2A	chr8:6263032-6265112	GM18505	blood:	n/a	n/a
37	POLR2A	chr8:6264814-6265060	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr8:6262966-6265174	GM12892	blood:	n/a	n/a
39	HEY1	chr8:6264779-6265077	HepG2	liver:	n/a	chr8:6265045-6265054
40	POLR2A	chr8:6263039-6264980	GM18526	blood:	n/a	n/a
41	MYC	chr8:6264580-6265242	K562	blood:	n/a	chr8:6265043-6265056
42	SIN3A	chr8:6263030-6265412	H1-hESC	embryonic stem cell:	n/a	chr8:6263038-6263052
43	MAX	chr8:6263581-6265282	H1-hESC	embryonic stem cell:	n/a	chr8:6265043-6265056
44	POLR2A	chr8:6263137-6265195	K562	blood:	n/a	n/a
45	POLR2A	chr8:6264478-6265013	GM12891	blood:	n/a	n/a
46	POLR2A	chr8:6263799-6265083	GM12878	blood:	n/a	n/a
47	MAX	chr8:6264743-6264917	GM12878	blood:	n/a	n/a
48	MAX	chr8:6264767-6265182	K562	blood:	n/a	chr8:6265043-6265056
49	MAX	chr8:6264820-6265092	Hela-S3	cervix:	n/a	chr8:6265043-6265056
50	UBTF	chr8:6264584-6265060	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
2	chr17:49196178..49198302-chr8:6264048..6265705,2	K562	blood:
3	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
4	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:

Variant related genes	Relation type
ENSG00000246089	TF binding region
ENSG00000155189	Chromatin interaction
ENSG00000008294	Chromatin interaction
ENSG00000249898	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1017541	1.00[AFR][1000 genomes]
rs1550689	1.00[YRI][hapmap]
rs1550692	1.00[YRI][hapmap]
rs2440421	1.00[YRI][hapmap]
rs2442481	1.00[YRI][hapmap]
rs2442526	1.00[YRI][hapmap]
rs2442529	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2442541	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2515440	0.87[AFR][1000 genomes]
rs2515533	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1018782	chr8:5984032-6284373	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv890041	chr8:6084048-6274963	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv527005	chr8:6129051-6287170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1021800	chr8:6144798-6286635	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1018882	chr8:6204857-6289937	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1033935	chr8:6262180-6275753	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv524404	chr8:6263083-6291485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6262000-6265200	Active TSS	GM12878-XiMat	blood
2	chr8:6262200-6265400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:6262600-6265200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:6262800-6265000	Active TSS	NHLF	lung
5	chr8:6262800-6265200	Active TSS	Brain Anterior Caudate	brain
6	chr8:6262800-6265200	Active TSS	Fetal Kidney	kidney
7	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:6263000-6265000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr8:6263000-6265000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:6263000-6265000	Active TSS	Colonic Mucosa	Colon
14	chr8:6263000-6265000	Active TSS	Fetal Brain Female	brain
15	chr8:6263000-6265000	Active TSS	Fetal Intestine Large	intestine
16	chr8:6263000-6265200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:6263000-6265200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:6263000-6265200	Active TSS	Right Ventricle	heart
19	chr8:6263000-6265400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:6263000-6265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:6263000-6265400	Active TSS	Brain Germinal Matrix	brain
22	chr8:6263000-6265400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:6263000-6265600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:6263200-6265000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:6263200-6265000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:6263200-6265000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:6263200-6265000	Active TSS	Esophagus	oesophagus
28	chr8:6263200-6265000	Active TSS	Gastric	stomach
29	chr8:6263200-6265000	Active TSS	Ovary	ovary
30	chr8:6263200-6265000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:6263200-6265000	Active TSS	Small Intestine	intestine
32	chr8:6263200-6265000	Active TSS	Hela-S3	cervix
33	chr8:6263200-6265000	Active TSS	NHEK	skin
34	chr8:6263200-6265200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:6263200-6265200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:6263200-6265200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:6263200-6265200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:6263200-6265200	Active TSS	A549	lung
39	chr8:6263200-6265200	Active TSS	HMEC	breast
40	chr8:6263200-6265200	Active TSS	HSMM	muscle
41	chr8:6263200-6265200	Active TSS	K562	blood
42	chr8:6263200-6265400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:6263200-6265400	Active TSS	Psoas Muscle	Psoas
44	chr8:6263200-6265600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:6263400-6265000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:6263400-6265000	Active TSS	Fetal Intestine Small	intestine
47	chr8:6263400-6265000	Active TSS	Fetal Stomach	stomach
48	chr8:6263400-6265200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr8:6263400-6265200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:6263400-6265200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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