Variant report

Variant	rs773381
Chromosome Location	chr7:40024400-40024401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39988080..39990398-chr7:40022100..40025071,3	K562	blood:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10081308	0.80[EUR][1000 genomes]
rs10156182	0.91[EUR][1000 genomes]
rs10234693	0.91[EUR][1000 genomes]
rs10246466	0.92[EUR][1000 genomes]
rs1024680	0.91[EUR][1000 genomes]
rs10268288	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10272641	0.90[EUR][1000 genomes]
rs10275761	0.93[EUR][1000 genomes]
rs1082028	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1082030	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951623	0.88[ASN][1000 genomes]
rs11771104	0.87[AFR][1000 genomes]
rs11977756	0.88[ASN][1000 genomes]
rs11980745	0.93[EUR][1000 genomes]
rs12334141	0.90[EUR][1000 genomes]
rs12530835	0.87[ASN][1000 genomes]
rs12532714	0.87[ASN][1000 genomes]
rs12533272	0.89[EUR][1000 genomes]
rs12534074	0.83[EUR][1000 genomes]
rs12534103	0.85[ASN][1000 genomes]
rs12539956	0.85[ASN][1000 genomes]
rs1257699	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12672040	0.87[ASN][1000 genomes]
rs12672136	0.84[ASN][1000 genomes]
rs12672142	0.84[ASN][1000 genomes]
rs1403381	0.93[EUR][1000 genomes]
rs1568645	0.85[EUR][1000 genomes]
rs17171637	0.88[ASN][1000 genomes]
rs17537767	0.88[ASN][1000 genomes]
rs2052097	0.91[EUR][1000 genomes]
rs2109340	0.83[EUR][1000 genomes]
rs2159488	0.91[EUR][1000 genomes]
rs2329693	0.91[EUR][1000 genomes]
rs28742222	0.81[EUR][1000 genomes]
rs33999222	0.93[EUR][1000 genomes]
rs3735135	0.88[ASN][1000 genomes]
rs3847018	0.87[AFR][1000 genomes]
rs3847020	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3847021	0.88[EUR][1000 genomes]
rs4344004	0.88[ASN][1000 genomes]
rs4723923	0.87[ASN][1000 genomes]
rs4723924	0.87[AFR][1000 genomes]
rs4723929	0.88[EUR][1000 genomes]
rs4723931	0.82[EUR][1000 genomes]
rs60315659	0.85[ASN][1000 genomes]
rs6952597	0.91[EUR][1000 genomes]
rs6960111	0.91[EUR][1000 genomes]
rs6963804	0.83[EUR][1000 genomes]
rs6966917	0.93[EUR][1000 genomes]
rs6970705	0.84[AFR][1000 genomes]
rs6970838	0.87[AFR][1000 genomes]
rs6975853	0.88[EUR][1000 genomes]
rs731847	0.89[EUR][1000 genomes]
rs731848	0.89[EUR][1000 genomes]
rs773379	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs773385	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs773386	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs773393	0.90[EUR][1000 genomes]
rs773397	0.90[EUR][1000 genomes]
rs773402	0.91[EUR][1000 genomes]
rs773403	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs773410	0.83[EUR][1000 genomes]
rs773413	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs773414	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs773415	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773424	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7797041	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7799846	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7810509	0.81[EUR][1000 genomes]
rs9639818	0.91[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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

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	chr7:40011200-40025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:40011400-40027400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:40016800-40027200	Weak transcription	A549	lung
20	chr7:40017400-40027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:40017600-40024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:40017800-40026800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:40017800-40027400	Weak transcription	Liver	Liver
24	chr7:40018000-40025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:40018000-40025200	Weak transcription	Small Intestine	intestine
26	chr7:40018400-40024600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:40018400-40024600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:40018400-40027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:40018400-40027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:40018600-40024400	Weak transcription	Right Ventricle	heart
31	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:40018800-40025200	Weak transcription	Adipose Nuclei	Adipose
33	chr7:40018800-40027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:40019200-40025000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:40019200-40025200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:40019400-40024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:40019400-40025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:40019400-40025200	Weak transcription	Dnd41	blood
39	chr7:40019400-40025400	Weak transcription	Pancreas	Pancrea
40	chr7:40019400-40027200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:40019600-40025400	Weak transcription	Gastric	stomach
42	chr7:40019600-40026800	Weak transcription	Fetal Thymus	thymus
43	chr7:40019600-40027400	Weak transcription	Placenta	Placenta
44	chr7:40019600-40029400	Weak transcription	Right Atrium	heart
45	chr7:40019800-40024400	Weak transcription	Brain Anterior Caudate	brain
46	chr7:40019800-40024400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:40019800-40024600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:40019800-40024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:40019800-40024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:40019800-40025000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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