Variant report

Variant	rs1267260
Chromosome Location	chr7:40102026-40102027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40098014..40099578-chr7:40101201..40104032,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11771104	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3847018	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4723924	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970705	0.86[EUR][1000 genomes]
rs6970838	0.84[EUR][1000 genomes]
rs798855	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798856	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs798858	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs798861	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
21	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
22	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic 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	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1267260	CDC2L5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
2	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:40048000-40102400	Weak transcription	HMEC	breast
5	chr7:40048000-40102400	Weak transcription	NHEK	skin
6	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
7	chr7:40055800-40102400	Weak transcription	NHLF	lung
8	chr7:40055800-40110000	Weak transcription	Gastric	stomach
9	chr7:40055800-40127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:40055800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:40056000-40105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:40056000-40112200	Weak transcription	HepG2	liver
13	chr7:40056200-40128600	Weak transcription	A549	lung
14	chr7:40058600-40126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:40059000-40125200	Weak transcription	Fetal Kidney	kidney
16	chr7:40060200-40102400	Weak transcription	NHDF-Ad	bronchial
17	chr7:40070600-40104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:40072000-40104000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:40072000-40130400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:40074000-40102600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:40075800-40102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:40076200-40102400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:40076200-40106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:40077200-40102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:40077200-40102600	Weak transcription	GM12878-XiMat	blood
26	chr7:40077200-40127800	Weak transcription	Esophagus	oesophagus
27	chr7:40080200-40132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:40082000-40127800	Weak transcription	Pancreas	Pancrea
29	chr7:40082600-40128200	Weak transcription	Spleen	Spleen
30	chr7:40083400-40127400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:40086000-40105000	Weak transcription	Hela-S3	cervix
32	chr7:40086400-40127800	Weak transcription	Thymus	Thymus
33	chr7:40086600-40102800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:40088000-40102400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:40089600-40102400	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:40092600-40127600	Weak transcription	Brain Substantia Nigra	brain
37	chr7:40093800-40127600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:40094800-40127800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:40095600-40102600	Weak transcription	Fetal Stomach	stomach
40	chr7:40095800-40127800	Weak transcription	Fetal Brain Female	brain
41	chr7:40096400-40102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:40096400-40102400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:40096400-40102400	Weak transcription	Osteobl	bone
44	chr7:40096600-40102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:40096600-40126600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:40096800-40126600	Weak transcription	Lung	lung
47	chr7:40097200-40102200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:40097200-40102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:40097200-40102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:40097200-40102400	Weak transcription	HSMM	muscle

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