Variant report

Variant	rs17150393
Chromosome Location	chr7:2780392-2780393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10487576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487577	1.00[EUR][1000 genomes]
rs16870623	0.92[EUR][1000 genomes]
rs17132628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17132636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17132643	0.92[EUR][1000 genomes]
rs17132648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132655	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132661	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132663	0.92[EUR][1000 genomes]
rs17132669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132685	0.92[EUR][1000 genomes]
rs17132693	0.92[EUR][1000 genomes]
rs17132706	0.92[EUR][1000 genomes]
rs17132714	0.92[EUR][1000 genomes]
rs17132722	0.92[EUR][1000 genomes]
rs17132725	0.92[EUR][1000 genomes]
rs2013926	0.92[EUR][1000 genomes]
rs2013939	0.92[EUR][1000 genomes]
rs41308332	1.00[AMR][1000 genomes]
rs57065076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344547	0.92[EUR][1000 genomes]
rs59828898	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6978793	0.84[EUR][1000 genomes]
rs7790221	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
3	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:2771000-2780400	Weak transcription	Aorta	Aorta
5	chr7:2771200-2782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:2771200-2783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:2771400-2780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:2771400-2782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:2771400-2785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:2771400-2796200	Weak transcription	NHEK	skin
12	chr7:2771600-2781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:2772400-2780400	Weak transcription	HMEC	breast
14	chr7:2772800-2783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:2773200-2782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:2773200-2783200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:2773200-2796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:2773200-2796400	Weak transcription	NH-A	brain
19	chr7:2773200-2797000	Weak transcription	Pancreas	Pancrea
20	chr7:2773600-2796400	Weak transcription	Osteobl	bone
21	chr7:2775000-2781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:2775200-2781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:2775200-2783200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:2775200-2783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:2775200-2790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:2775200-2791600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:2775200-2796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:2775400-2782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:2775400-2789800	Weak transcription	Ovary	ovary
30	chr7:2775400-2790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:2775400-2797400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
33	chr7:2775600-2782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:2775800-2796400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:2775800-2796400	Weak transcription	HSMM	muscle
36	chr7:2776200-2782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:2776200-2797000	Weak transcription	Spleen	Spleen
38	chr7:2776400-2783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:2776600-2780800	Weak transcription	GM12878-XiMat	blood
40	chr7:2776600-2784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:2776800-2782000	Weak transcription	Fetal Heart	heart
42	chr7:2776800-2782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:2776800-2783200	Weak transcription	Fetal Intestine Large	intestine
44	chr7:2776800-2793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:2776800-2796200	Weak transcription	HepG2	liver
46	chr7:2777600-2796200	Weak transcription	Dnd41	blood
47	chr7:2778200-2782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:2778200-2796400	Weak transcription	Psoas Muscle	Psoas
49	chr7:2778400-2780400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:2778600-2781600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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