Variant report

Variant	rs2440450
Chromosome Location	chr8:6265103-6265104
allele	C/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	MAX	chr8:6264855-6265174	K562	blood:	n/a	chr8:6265043-6265056
3	MAX	chr8:6264875-6265173	H1-hESC	embryonic stem cell:	n/a	chr8:6265043-6265056
4	MXI1	chr8:6263153-6265176	HepG2	liver:	n/a	n/a
5	TBP	chr8:6264738-6265154	HepG2	liver:	n/a	n/a
6	MAX	chr8:6264860-6265136	HepG2	liver:	n/a	chr8:6265043-6265056
7	BRCA1	chr8:6264893-6265173	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:6263082-6265114	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr8:6264840-6265120	K562	blood:	n/a	n/a
11	POLR2A	chr8:6262909-6265387	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:6262960-6265138	GM12878	blood:	n/a	n/a
13	MAX	chr8:6263233-6265228	NB4	blood:	n/a	chr8:6265043-6265056
14	MXI1	chr8:6263003-6265606	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr8:6264851-6265152	K562	blood:	n/a	n/a
16	MYC	chr8:6264608-6265400	MCF10A-Er-Src	breast:	n/a	chr8:6265043-6265056
17	POLR2A	chr8:6264475-6265172	HepG2	liver:	n/a	n/a
18	MYC	chr8:6264606-6265283	K562	blood:	n/a	chr8:6265043-6265056
19	E2F6	chr8:6263775-6265289	H1-hESC	embryonic stem cell:	n/a	chr8:6264130-6264139 chr8:6264094-6264103
20	POLR2A	chr8:6263032-6265112	GM18505	blood:	n/a	n/a
21	POLR2A	chr8:6262966-6265174	GM12892	blood:	n/a	n/a
22	MYC	chr8:6264580-6265242	K562	blood:	n/a	chr8:6265043-6265056
23	SIN3A	chr8:6263030-6265412	H1-hESC	embryonic stem cell:	n/a	chr8:6263038-6263052
24	MAX	chr8:6263581-6265282	H1-hESC	embryonic stem cell:	n/a	chr8:6265043-6265056
25	POLR2A	chr8:6263137-6265195	K562	blood:	n/a	n/a
26	MAX	chr8:6264767-6265182	K562	blood:	n/a	chr8:6265043-6265056
27	MYC	chr8:6265024-6265112	K562	blood:	n/a	chr8:6265043-6265056
28	E2F4	chr8:6264889-6265187	MCF10A-Er-Src	breast:	n/a	n/a
29	CREB1	chr8:6263700-6265163	HepG2	liver:	n/a	n/a
30	POLR2A	chr8:6262912-6265182	HepG2	liver:	n/a	n/a
31	WRNIP1	chr8:6264770-6265351	GM12878	blood:	n/a	n/a
32	USF1	chr8:6264919-6265206	H1-hESC	embryonic stem cell:	n/a	chr8:6265043-6265054
33	POLR2A	chr8:6263095-6265112	GM12892	blood:	n/a	n/a
34	POLR2A	chr8:6264455-6265178	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr8:6263144-6265305	IMR90	lung:	n/a	n/a
36	POLR2A	chr8:6264484-6265121	K562	blood:	n/a	n/a
37	TBP	chr8:6264832-6265128	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:6264535-6265104	GM12891	blood:	n/a	n/a
39	MTA3	chr8:6264446-6265150	GM12878	blood:	n/a	n/a
40	USF1	chr8:6264883-6265129	HepG2	liver:	n/a	chr8:6265043-6265054
41	POLR2A	chr8:6263270-6265133	HepG2	liver:	n/a	n/a
42	RUNX3	chr8:6264772-6265106	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:6263049-6265143	GM12892	blood:	n/a	n/a
44	HEY1	chr8:6264474-6265207	HepG2	liver:	n/a	chr8:6265045-6265054
45	POLR2A	chr8:6263083-6265115	GM15510	blood:	n/a	n/a
46	MAZ	chr8:6264620-6265107	K562	blood:	n/a	chr8:6265043-6265056
47	MAX	chr8:6263517-6265250	HepG2	liver:	n/a	chr8:6265043-6265056
48	POLR2A	chr8:6262762-6265270	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr8:6263082-6265111	K562	blood:	n/a	n/a
50	REST	chr8:6263027-6265353	H1-neurons	neurons:	n/a	chr8:6263037-6263051 chr8:6263037-6263057 chr8:6264088-6264101 chr8:6264963-6264972 chr8:6263037-6263057

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
ENSG00000249898	Chromatin interaction
ENSG00000008294	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1550697	0.89[CHB][hapmap]
rs2440452	0.89[CHB][hapmap];0.85[ASN][1000 genomes]
rs35777339	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56981469	1.00[EUR][1000 genomes]
rs57751039	0.82[ASN][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	chr8:6262800-6265200	Active TSS	Brain Anterior Caudate	brain
5	chr8:6262800-6265200	Active TSS	Fetal Kidney	kidney
6	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:6263000-6265200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:6263000-6265200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:6263000-6265200	Active TSS	Right Ventricle	heart
13	chr8:6263000-6265400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:6263000-6265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:6263000-6265400	Active TSS	Brain Germinal Matrix	brain
16	chr8:6263000-6265400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:6263000-6265600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:6263200-6265200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:6263200-6265200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:6263200-6265200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:6263200-6265200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:6263200-6265200	Active TSS	A549	lung
23	chr8:6263200-6265200	Active TSS	HMEC	breast
24	chr8:6263200-6265200	Active TSS	HSMM	muscle
25	chr8:6263200-6265200	Active TSS	K562	blood
26	chr8:6263200-6265400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:6263200-6265400	Active TSS	Psoas Muscle	Psoas
28	chr8:6263200-6265600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:6263400-6265200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:6263400-6265200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:6263400-6265200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:6263400-6265200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:6263400-6265200	Active TSS	Pancreas	Pancrea
34	chr8:6263400-6265200	Active TSS	Rectal Smooth Muscle	rectum
35	chr8:6263400-6265200	Active TSS	NHDF-Ad	bronchial
36	chr8:6263400-6265400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:6263400-6265400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:6263600-6265200	Active TSS	Right Atrium	heart
39	chr8:6264600-6265200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr8:6264600-6265200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:6264600-6265200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:6264600-6265200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:6264600-6265200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:6264600-6265200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr8:6264600-6265200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:6264600-6265200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:6264600-6265200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr8:6264600-6265200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr8:6264600-6265200	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:6264600-6265200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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