Variant report

Variant	rs56385226
Chromosome Location	chr7:70221362-70221363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4719021	1.00[EUR][1000 genomes]
rs55780867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56052852	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57851676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57950124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58739898	1.00[AMR][1000 genomes]
rs60051730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60651927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60652185	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60973903	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61379656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61424456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61610980	1.00[AMR][1000 genomes]
rs61700273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704805	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706465	0.86[AFR][1000 genomes];1.00[AMR][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	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
12	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
13	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
14	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
15	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
16	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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:61 , 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	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
5	chr7:70205400-70227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:70209400-70226000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:70209800-70227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:70209800-70227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:70211800-70224200	Weak transcription	Lung	lung
11	chr7:70212400-70227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:70213800-70222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:70214000-70227600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:70214200-70230200	Weak transcription	NHEK	skin
15	chr7:70214400-70224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:70214400-70227400	Weak transcription	Esophagus	oesophagus
17	chr7:70214800-70221800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:70214800-70227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:70214800-70227600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
21	chr7:70215200-70227600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
23	chr7:70216600-70222200	Weak transcription	Fetal Brain Male	brain
24	chr7:70216800-70226200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:70216800-70231000	Weak transcription	HMEC	breast
26	chr7:70217000-70230400	Weak transcription	Primary B cells from cord blood	blood
27	chr7:70217200-70229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:70217200-70230200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:70217400-70221400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:70217800-70227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:70218000-70223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:70218000-70223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:70218000-70224000	Weak transcription	Gastric	stomach
34	chr7:70218000-70228200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:70218000-70230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:70218200-70222800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:70218200-70224600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:70218200-70231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:70218400-70221600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:70218400-70223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:70218400-70223400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:70218400-70223800	Weak transcription	Fetal Stomach	stomach
43	chr7:70218400-70224400	Weak transcription	Ovary	ovary
44	chr7:70218400-70230000	Weak transcription	NH-A	brain
45	chr7:70218400-70230600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:70218600-70221800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:70218600-70223600	Weak transcription	Fetal Brain Female	brain
48	chr7:70218600-70223800	Weak transcription	Brain Anterior Caudate	brain
49	chr7:70218600-70223800	Weak transcription	Fetal Lung	lung
50	chr7:70218600-70230200	Weak transcription	HSMM	muscle

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