Variant report

Variant	rs2440431
Chromosome Location	chr8:6282606-6282607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6281453..6284315-chr8:6428967..6430752,3	K562	blood:
2	chr8:6282250..6282973-chr8:6539904..6540599,2	MCF-7	breast:
3	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
4	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:
5	chr8:6264145..6266520-chr8:6281324..6283294,2	K562	blood:
6	chr8:6282447..6283252-chr8:6539685..6540602,2	K562	blood:
7	chr8:6280960..6282945-chr8:6426818..6429637,2	K562	blood:
8	chr8:6282319..6282937-chr8:6658301..6658907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246089	Chromatin interaction
ENSG00000147316	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11987805	1.00[CEU][hapmap]
rs11990038	1.00[CEU][hapmap]
rs1550691	1.00[CEU][hapmap]
rs17077121	1.00[CEU][hapmap]
rs17077123	1.00[CEU][hapmap]
rs17077139	1.00[CEU][hapmap]
rs2440393	1.00[CEU][hapmap]
rs2440420	1.00[CEU][hapmap]
rs2515538	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515586	1.00[CEU][hapmap]
rs7836207	1.00[CEU][hapmap]
rs894896	1.00[CEU][hapmap]
rs894897	1.00[CEU][hapmap]

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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv528663	chr8:6279438-6291485	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv523681	chr8:6279511-6296550	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6286600	Weak transcription	Small Intestine	intestine
2	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:6265400-6287400	Weak transcription	Psoas Muscle	Psoas
5	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:6265600-6290000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:6267600-6291400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:6268200-6282800	Weak transcription	NHLF	lung
10	chr8:6268200-6287400	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:6268400-6282800	Weak transcription	Fetal Kidney	kidney
12	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
13	chr8:6269600-6282800	Weak transcription	HSMM	muscle
14	chr8:6269800-6286600	Weak transcription	Pancreas	Pancrea
15	chr8:6269800-6286600	Weak transcription	Stomach Mucosa	stomach
16	chr8:6269800-6290200	Weak transcription	NH-A	brain
17	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
18	chr8:6270600-6283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:6273000-6286600	Weak transcription	Ovary	ovary
20	chr8:6273200-6291400	Weak transcription	Aorta	Aorta
21	chr8:6273200-6291600	Weak transcription	Esophagus	oesophagus
22	chr8:6273400-6286400	Weak transcription	Gastric	stomach
23	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:6274200-6289400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:6274200-6290400	Weak transcription	HMEC	breast
26	chr8:6274400-6282800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:6275800-6285000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:6275800-6286000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:6276000-6283200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:6276000-6289800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:6276200-6284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:6276200-6284800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:6276800-6286200	Weak transcription	Fetal Brain Male	brain
35	chr8:6277800-6283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:6278600-6289200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:6278800-6282800	Weak transcription	Adipose Nuclei	Adipose
39	chr8:6279000-6286800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:6279000-6289000	Weak transcription	Hela-S3	cervix
41	chr8:6279000-6291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:6279200-6291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:6279400-6282800	Weak transcription	Fetal Thymus	thymus
44	chr8:6279400-6283000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:6279400-6286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:6279400-6286000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:6279400-6286600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:6279400-6289400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:6279400-6290200	Weak transcription	Lung	lung
50	chr8:6279400-6290400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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