Variant report

Variant	rs6970705
Chromosome Location	chr7:40021483-40021484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1082028	0.80[AFR][1000 genomes]
rs1082030	0.83[AFR][1000 genomes]
rs11771104	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1257699	0.84[AFR][1000 genomes]
rs1267260	0.86[EUR][1000 genomes]
rs3847018	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4723924	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6970838	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs773381	0.84[AFR][1000 genomes]
rs773385	0.84[AFR][1000 genomes]
rs773386	0.84[AFR][1000 genomes]
rs773403	0.82[AFR][1000 genomes]
rs773414	0.84[AFR][1000 genomes]
rs773415	0.84[AFR][1000 genomes]
rs798855	0.87[EUR][1000 genomes]
rs798856	0.86[EUR][1000 genomes]
rs798858	0.83[EUR][1000 genomes]
rs798861	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv521293	chr7:40021044-40027484	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv518849	chr7:40021044-40030488	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6970705	CDC2L5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40027200	Weak transcription	HSMM	muscle
3	chr7:39995200-40042600	Weak transcription	K562	blood
4	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
6	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
7	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:40009400-40027400	Weak transcription	Osteobl	bone
11	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:40009800-40027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:40010000-40024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:40010000-40026800	Weak transcription	NHEK	skin
15	chr7:40010200-40025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:40010400-40027200	Weak transcription	Esophagus	oesophagus
17	chr7:40011200-40023600	Weak transcription	Lung	lung
18	chr7:40011200-40025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:40011400-40027400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:40015000-40023600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:40016800-40027200	Weak transcription	A549	lung
22	chr7:40017400-40027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:40017600-40024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:40017800-40026800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:40017800-40027400	Weak transcription	Liver	Liver
26	chr7:40018000-40025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:40018000-40025200	Weak transcription	Small Intestine	intestine
28	chr7:40018400-40024600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:40018400-40024600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:40018400-40027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:40018400-40027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:40018600-40023200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:40018600-40023200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:40018600-40023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:40018600-40023800	Weak transcription	Psoas Muscle	Psoas
36	chr7:40018600-40024400	Weak transcription	Right Ventricle	heart
37	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:40018800-40023200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:40018800-40025200	Weak transcription	Adipose Nuclei	Adipose
40	chr7:40018800-40027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:40019200-40023800	Weak transcription	Spleen	Spleen
42	chr7:40019200-40025000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:40019200-40025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:40019400-40024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:40019400-40025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:40019400-40025200	Weak transcription	Dnd41	blood
47	chr7:40019400-40025400	Weak transcription	Pancreas	Pancrea
48	chr7:40019400-40027200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:40019600-40023600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:40019600-40023600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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