Variant report

Variant	rs7213313
Chromosome Location	chr17:19725928-19725929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs205103	0.85[AFR][1000 genomes]
rs205113	0.80[AFR][1000 genomes]
rs57944836	0.80[AFR][1000 genomes]
rs59263276	0.95[AFR][1000 genomes]
rs73295824	0.95[AFR][1000 genomes]
rs73295842	0.95[AFR][1000 genomes]
rs73295860	0.81[AFR][1000 genomes]
rs73312778	0.85[AFR][1000 genomes]
rs73312783	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19680000-19726800	Weak transcription	NHLF	lung
3	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
4	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
5	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
6	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
7	chr17:19701000-19726600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:19701000-19726800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:19701000-19727000	Weak transcription	Thymus	Thymus
10	chr17:19701000-19728000	Weak transcription	HUVEC	blood vessel
11	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:19701000-19743200	Weak transcription	Gastric	stomach
14	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
16	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
18	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
19	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
20	chr17:19701400-19726800	Weak transcription	HSMM	muscle
21	chr17:19701800-19742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:19703800-19727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
24	chr17:19704200-19726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:19704400-19726400	Weak transcription	Fetal Thymus	thymus
26	chr17:19704400-19754800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:19705200-19726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:19705200-19726600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:19705200-19733200	Weak transcription	HMEC	breast
31	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr17:19707400-19726800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:19709200-19726600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:19710000-19729000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:19711200-19726800	Weak transcription	NHEK	skin
36	chr17:19712400-19726400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:19712400-19730000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:19712600-19726400	Weak transcription	A549	lung
40	chr17:19712600-19726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:19712600-19726600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:19712600-19726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:19712600-19726800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:19712600-19742400	Weak transcription	Fetal Kidney	kidney
45	chr17:19712600-19748400	Weak transcription	Fetal Brain Male	brain
46	chr17:19713000-19726600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:19714000-19726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:19715400-19729200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:19716400-19737000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:19716600-19726800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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