Variant report

Variant	rs28548521
Chromosome Location	chr7:70216852-70216853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10247379	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17762815	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1983487	0.87[ASN][1000 genomes]
rs2178045	0.88[ASN][1000 genomes]
rs35545046	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56786466	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61561819	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6966199	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:70198400-70218000	Weak transcription	Dnd41	blood
3	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:70202400-70217800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
7	chr7:70204200-70217000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:70205400-70227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:70206400-70217200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:70209400-70226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:70209800-70219200	Weak transcription	GM12878-XiMat	blood
13	chr7:70209800-70227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:70209800-70227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:70210000-70217000	Weak transcription	Ovary	ovary
16	chr7:70211800-70224200	Weak transcription	Lung	lung
17	chr7:70212400-70227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:70213800-70222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:70214000-70227600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:70214200-70217600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:70214200-70218600	Enhancers	HSMM	muscle
22	chr7:70214200-70230200	Weak transcription	NHEK	skin
23	chr7:70214400-70224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:70214400-70227400	Weak transcription	Esophagus	oesophagus
25	chr7:70214600-70217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:70214800-70217200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:70214800-70221800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:70214800-70227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:70214800-70227600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
31	chr7:70215000-70217000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:70215000-70217200	Weak transcription	Fetal Brain Female	brain
33	chr7:70215000-70217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:70215000-70217800	Weak transcription	Primary T cells from cord blood	blood
35	chr7:70215200-70227600	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:70215600-70219000	Enhancers	Liver	Liver
37	chr7:70215800-70217000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:70216000-70217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:70216000-70218000	Enhancers	Gastric	stomach
40	chr7:70216000-70218000	Enhancers	Right Atrium	heart
41	chr7:70216000-70218200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:70216200-70218200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:70216200-70218400	Enhancers	NH-A	brain
44	chr7:70216200-70218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
46	chr7:70216400-70217200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:70216400-70217400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:70216600-70217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:70216600-70217600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:70216600-70217600	Weak transcription	HSMMtube	muscle

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