Variant report

Variant	rs57762223
Chromosome Location	chr7:69922241-69922242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10230101	0.93[AMR][1000 genomes]
rs10230510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251859	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10277221	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10486878	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12111684	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113216	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437849	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17141545	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17141576	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41384947	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58156290	0.97[ASN][1000 genomes]
rs6460546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460547	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6965900	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967417	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783204	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786019	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7789284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:69900600-69922800	Weak transcription	Ovary	ovary
3	chr7:69912400-69924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:69914600-69922600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:69918800-69922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:69918800-69922400	Weak transcription	Fetal Stomach	stomach
7	chr7:69919000-69922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:69919000-69923000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:69919800-69924000	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:69920200-69923600	Enhancers	Primary B cells from cord blood	blood
11	chr7:69920200-69924600	Enhancers	Primary T cells from cord blood	blood
12	chr7:69920400-69922600	Enhancers	GM12878-XiMat	blood
13	chr7:69920400-69924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:69920600-69923800	Enhancers	Fetal Thymus	thymus
15	chr7:69921000-69923400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:69921200-69922400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:69921200-69922400	Enhancers	Dnd41	blood
18	chr7:69921200-69922600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:69921200-69922800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:69921200-69923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:69921400-69922400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:69921400-69922400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:69921400-69922600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:69921400-69923200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:69921400-69923400	Enhancers	Fetal Kidney	kidney
26	chr7:69921400-69923600	Enhancers	Thymus	Thymus
27	chr7:69921600-69922400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:69921600-69922400	Enhancers	Spleen	Spleen
29	chr7:69921600-69923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:69921600-69924800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:69921800-69923000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:69922000-69922400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:69922000-69923400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:69922000-69923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:69922000-69924200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:69922000-69925200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:69922200-69922600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:69922200-69923000	Weak transcription	Fetal Intestine Small	intestine
40	chr7:69922200-69923400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:69922200-69924200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:69922200-69924200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:69922200-69924800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:69922200-69924800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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