Variant report

Variant	rs2440449
Chromosome Location	chr8:6265880-6265881
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	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:

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

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10099316	0.91[AFR][1000 genomes]
rs10113656	0.91[AFR][1000 genomes]
rs1373313	0.91[AFR][1000 genomes]
rs2120479	0.91[AFR][1000 genomes]
rs2120480	0.91[AFR][1000 genomes]
rs2120481	0.87[AFR][1000 genomes]
rs2247108	0.85[AFR][1000 genomes]
rs2440435	0.91[AFR][1000 genomes]
rs2440436	0.87[AFR][1000 genomes]
rs2440437	0.89[AFR][1000 genomes]
rs2440438	0.85[AFR][1000 genomes]
rs2442539	0.91[AFR][1000 genomes]
rs2442540	0.91[AFR][1000 genomes]
rs2442545	0.91[AFR][1000 genomes]
rs2442547	0.85[AFR][1000 genomes]
rs2515415	0.91[AFR][1000 genomes]
rs2515417	0.91[AFR][1000 genomes]
rs2515419	0.91[AFR][1000 genomes]
rs2515453	0.91[AFR][1000 genomes]
rs2515455	0.91[AFR][1000 genomes]
rs2515470	0.91[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	chr8:6265000-6266800	Weak transcription	Ovary	ovary
2	chr8:6265000-6267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:6265000-6267000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:6265000-6267200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:6265000-6267200	Weak transcription	Spleen	Spleen
6	chr8:6265000-6272600	Weak transcription	Esophagus	oesophagus
7	chr8:6265000-6272600	Weak transcription	Gastric	stomach
8	chr8:6265000-6286600	Weak transcription	Small Intestine	intestine
9	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:6265200-6266000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:6265200-6266400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:6265200-6266600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:6265200-6266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:6265200-6266800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:6265200-6266800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:6265200-6266800	Weak transcription	Brain Substantia Nigra	brain
17	chr8:6265200-6266800	Weak transcription	Fetal Kidney	kidney
18	chr8:6265200-6266800	Weak transcription	HSMMtube	muscle
19	chr8:6265200-6267000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:6265200-6267000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:6265200-6267000	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:6265200-6267000	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:6265200-6267200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:6265200-6267200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:6265200-6267200	Weak transcription	Lung	lung
26	chr8:6265200-6267400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:6265200-6269200	Weak transcription	Aorta	Aorta
28	chr8:6265200-6269400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:6265200-6269600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:6265200-6269600	Weak transcription	Pancreas	Pancrea
31	chr8:6265200-6281800	Weak transcription	Right Atrium	heart
32	chr8:6265200-6281800	Weak transcription	Right Ventricle	heart
33	chr8:6265200-6282600	Weak transcription	Colonic Mucosa	Colon
34	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:6265400-6266000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:6265400-6266000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:6265400-6266000	Enhancers	Fetal Thymus	thymus
38	chr8:6265400-6266200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:6265400-6266200	Weak transcription	Fetal Stomach	stomach
40	chr8:6265400-6266400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:6265400-6266600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:6265400-6266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:6265400-6266600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:6265400-6266600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:6265400-6266600	Weak transcription	Fetal Intestine Large	intestine
46	chr8:6265400-6266600	Weak transcription	Placenta	Placenta
47	chr8:6265400-6266600	Weak transcription	Left Ventricle	heart
48	chr8:6265400-6266600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:6265400-6266600	Weak transcription	HUVEC	blood vessel
50	chr8:6265400-6266800	Weak transcription	H1 Cell Line	embryonic stem cell

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